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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LY75	4065	broad.mit.edu	37	2	160737660	160737660	+	Silent	SNP	A	A	G	rs146544104	byFrequency	TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:160737660A>G	ENST00000263636.4	-	8	1365	c.1338T>C	c.(1336-1338)taT>taC	p.Y446Y	LY75_ENST00000553424.1_Silent_p.Y446Y|LY75-CD302_ENST00000505052.1_Silent_p.Y446Y|LY75_ENST00000554112.1_Silent_p.Y446Y|LY75-CD302_ENST00000504764.1_Silent_p.Y446Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCTCATCCCAATATGTTAGAG	0.378000													7	93					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227381560	227381560	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:227381560C>A	ENST00000366769.3	-	5	1817	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D176Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D176Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D176Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D176Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D176Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D176Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	176	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTAGCCATATCTTCAGGCAAT	0.368000													50	22					1.21353e-23	1.23428e-23	1	1	0
NDNF	79625	broad.mit.edu	37	4	121957767	121957767	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:121957767G>C	ENST00000379692.4	-	4	1885	c.1359C>G	c.(1357-1359)atC>atG	p.I453M		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	453	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAAAGGCTTTGATTCTTGTGT	0.448000													71	94					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279219	114279219	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:114279219G>C	ENST00000357077.4	+	38	9498	c.9445G>C	c.(9445-9447)Gaa>Caa	p.E3149Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3116Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3116					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGATGTGAAAGAAGGGGCTAC	0.443000													20	16					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881287	60881287	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr20:60881287G>A	ENST00000253003.2	+	4	411	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	ADRM1_ENST00000462554.1_3'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	122	Interaction with PSMD1.|PH.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GAGCATTGCCGGAAAGTCAAC	0.627000													3	55					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55078337	55078337	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:55078337C>T	ENST00000262288.3	+	11	1171	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	372					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGGATCTCATCGTAGATA	0.498000													33	38					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824421	34824421	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:34824421G>A	ENST00000265109.3	+	15	2761	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	RAI14_ENST00000512629.1_Missense_Mutation_p.R796K|RAI14_ENST00000428746.2_Missense_Mutation_p.R825K|RAI14_ENST00000506376.1_Missense_Mutation_p.R817K|RAI14_ENST00000503673.1_Missense_Mutation_p.R825K|RAI14_ENST00000515799.1_Missense_Mutation_p.R828K|RAI14_ENST00000397449.1_Missense_Mutation_p.R818K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	825						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GTCCAGATTAGAAGTGAGGTC	0.393000													52	57					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65321246	65321246	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:65321246G>A	ENST00000342505.4	-	11	1842	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	532	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTATCCGTGCGCAGGATCTGC	0.582000			Mis		ALL								12	19					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136240142	136240142	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:136240142C>T	ENST00000383202.2	-	7	845	c.589G>A	c.(589-591)Gag>Aag	p.E197K	STAG1_ENST00000236698.5_Missense_Mutation_p.E197K|STAG1_ENST00000480733.1_Missense_Mutation_p.E197K|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	197					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATCATATACTCATCATAAATT	0.403000													4	73					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121554994	121554994	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:121554994C>G	ENST00000452319.1	+	2	158	c.98C>G	c.(97-99)tCt>tGt	p.S33C	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.S33C			P10070	GLI2_HUMAN	GLI family zinc finger 2	33					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAAAGGCCTCTCCTTTGGTG	0.592000													5	90					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031749	27031749	+	Silent	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:27031749G>C	ENST00000301039.2	-	2	397	c.204C>G	c.(202-204)gtC>gtG	p.V68V	PROCA1_ENST00000439862.3_Silent_p.V70V|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	96					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TGCAGTGGTTGACAGAGTGTA	0.572000													3	44					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69973022	69973022	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:69973022C>T	ENST00000359154.2	+	22	2537	c.2436C>T	c.(2434-2436)ctC>ctT	p.L812L	WWP2_ENST00000568684.1_Silent_p.L373L|WWP2_ENST00000542271.1_Silent_p.L696L|WWP2_ENST00000356003.2_Silent_p.L812L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L812L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	812	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGCCGAACTCATCGGTATGT	0.602000													8	4					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71957242	71957242	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:71957242C>T	ENST00000378799.6	+	8	1167	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	IST1_ENST00000329908.8_Missense_Mutation_p.H271Y|IST1_ENST00000378798.5_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.H284Y|IST1_ENST00000544564.1_Missense_Mutation_p.H271Y|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000606369.1_Missense_Mutation_p.H123Y|IST1_ENST00000538850.1_Missense_Mutation_p.H123Y|IST1_ENST00000541571.2_Missense_Mutation_p.H271Y|RP11-498D10.5_ENST00000567146.1_RNA			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	269	Interaction with VPS37B.|Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										TCCCAATATTCATCCACCTCA	0.468000													32	51					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107557725	107557725	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:107557725G>C	ENST00000205402.5	+	11	1335	c.1054G>C	c.(1054-1056)Gcc>Ccc	p.A352P	DLD_ENST00000537148.1_Missense_Mutation_p.A253P|DLD_ENST00000437604.2_Missense_Mutation_p.A304P|DLD_ENST00000440410.1_Missense_Mutation_p.A329P	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	352					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TAGTATCTATGCCATTGGTGA	0.403000													3	59					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135732524	135732524	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:135732524G>A	ENST00000370629.2	+	2	312	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E86K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	86					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GAACTGTGAGGAGATTAAAAG	0.353000									Immune Deficiency with Hyper-IgM				7	80					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46794520	46794520	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr22:46794520G>A	ENST00000262738.3	-	11	5426	c.5427C>T	c.(5425-5427)atC>atT	p.I1809I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1809	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCATGCCCCCGATATCTGCCT	0.617000													7	45					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47494774	47494774	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:47494774C>T	ENST00000395290.2	-	11	1205	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	CELF1_ENST00000358597.3_Missense_Mutation_p.G400E|CELF1_ENST00000395292.2_Missense_Mutation_p.G397E|CELF1_ENST00000361904.3_Missense_Mutation_p.G397E|CELF1_ENST00000532048.1_Missense_Mutation_p.G426E|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.G428E|CELF1_ENST00000310513.5_Missense_Mutation_p.G396E	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	400					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGGTTGGCTCCCTCTGGACC	0.483000													4	33					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488829	44488829	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:44488829G>A	ENST00000425708.2	-	7	2675	c.2334C>T	c.(2332-2334)ctC>ctT	p.L778L	ZNF445_ENST00000396077.2_Silent_p.L778L			P59923	ZN445_HUMAN	zinc finger protein 445	778					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCTGATGGATGAGGAGGAATG	0.512000													18	25					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7556777	7556777	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:7556777C>T	ENST00000250111.4	+	2	605	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	66					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TGCAGACTGTCTCCGACCATA	0.567000													35	49					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	18					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052075	50052075	+	Silent	SNP	A	A	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:50052075A>G	ENST00000376042.1	+	6	1204	c.906A>G	c.(904-906)ccA>ccG	p.P302P	CCNB3_ENST00000276014.7_Silent_p.P302P|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	302					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTAGGAAGCCACCAGTATTGC	0.418000													41	69					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112723735	112723735	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:112723735G>A	ENST00000297146.3	-	3	1645	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	GPR85_ENST00000449591.1_Missense_Mutation_p.R348C|GPR85_ENST00000501255.2_Missense_Mutation_p.R348C|GPR85_ENST00000424100.1_Missense_Mutation_p.R348C	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTGAAACAGCGCCTCAGCTCC	0.453000													34	42					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111870217	111870217	+	Silent	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr13:111870217C>G	ENST00000375741.2	+	6	973	c.723C>G	c.(721-723)gtC>gtG	p.V241V	ARHGEF7_ENST00000375723.1_Silent_p.V63V|ARHGEF7_ENST00000375739.2_Silent_p.V191V|ARHGEF7_ENST00000370623.3_Silent_p.V148V|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Silent_p.V220V|ARHGEF7_ENST00000426073.2_Silent_p.V63V|ARHGEF7_ENST00000218789.5_Silent_p.V63V|ARHGEF7_ENST00000375737.5_Silent_p.V138V|ARHGEF7_ENST00000375736.4_Silent_p.V63V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	241	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCGCGAGGTCAAGGCCAGCG	0.577000													12	13					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735805	76735805	+	Silent	SNP	T	T	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr10:76735805T>C	ENST00000287239.4	+	8	2199	c.1710T>C	c.(1708-1710)cgT>cgC	p.R570R	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	570	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACCCAAACGTATGCGTCGTA	0.453000													30	51					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106048	53106048	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:53106048C>G	ENST00000332582.4	+	2	736	c.245C>G	c.(244-246)tCt>tGt	p.S82C		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	82						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCTGGCTTCTGTGCGCCAC	0.577000													51	87					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90254576	90254576	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr9:90254576G>C	ENST00000469640.2	+	6	940	c.565G>C	c.(565-567)Gtc>Ctc	p.V189L	DAPK1_ENST00000491893.1_Missense_Mutation_p.V189L|DAPK1_ENST00000472284.1_Missense_Mutation_p.V189L|DAPK1_ENST00000408954.3_Missense_Mutation_p.V189L|DAPK1_ENST00000358077.5_Missense_Mutation_p.V189L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	189	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCCTGAGATAGTCAACTATGA	0.408000									Chronic Lymphocytic Leukemia, Familial Clustering of				57	20					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2664713	2664713	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:2664713G>C	ENST00000324666.5	+	9	1372	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	FAM193A_ENST00000502458.1_Missense_Mutation_p.D363H|FAM193A_ENST00000545951.1_Missense_Mutation_p.D341H|FAM193A_ENST00000505311.1_Missense_Mutation_p.D341H|FAM193A_ENST00000382839.3_Missense_Mutation_p.D341H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	341										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGCCCTGAAGGATGAGGTATG	0.378000													24	40					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791708	169791708	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:169791708G>A	ENST00000263817.6	-	23	3166	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1014	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACACATAGCTGAAATGGAGCC	0.438000													85	76					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544785	55544785	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:55544785C>T	ENST00000436346.1	-	20	4358	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1172K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1172K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1173K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1173					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATTCATACTCTGAAGCCTGA	0.373000													70	78					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807848	152807848	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:152807848G>A	ENST00000370186.1	+	5	1058	c.732G>A	c.(730-732)ctG>ctA	p.L244L	ATP2B3_ENST00000349466.2_Silent_p.L244L|ATP2B3_ENST00000393842.1_Silent_p.L244L|ATP2B3_ENST00000263519.4_Silent_p.L244L|ATP2B3_ENST00000359149.3_Silent_p.L244L|ATP2B3_ENST00000370181.2_Silent_p.L244L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	244					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCTCCCTGACGGGCGAGT	0.652000													17	12					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113219584	113219584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr9:113219584G>A	ENST00000401783.2	-	21	3961	c.3625C>T	c.(3625-3627)Cag>Tag	p.Q1209*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.Q1209*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Q1186*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1209	EGF-like 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAAGTTGCTGGCAGGTTCCA	0.348000													20	3					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													6	85					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50746101	50746101	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:50746101G>A	ENST00000300589.2	+	4	2384	c.2279G>A	c.(2278-2280)cGt>cAt	p.R760H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	760					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAGGCTGCACGTGGCCTGAAT	0.642000													31	41					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468564	44468564	+	Silent	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:44468564G>C	ENST00000372310.3	-	6	849	c.684C>G	c.(682-684)gtC>gtG	p.V228V	SLC6A9_ENST00000537678.1_Silent_p.V163V|SLC6A9_ENST00000372307.3_Silent_p.V163V|SLC6A9_ENST00000357730.2_Silent_p.V247V|SLC6A9_ENST00000360584.2_Silent_p.V301V|SLC6A9_ENST00000475075.2_Silent_p.V117V|SLC6A9_ENST00000372306.3_Silent_p.V228V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	301						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGCAGAGGAAGACGACCAACC	0.612000													9	128					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468273	44468273	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:44468273G>C	ENST00000372310.3	-	7	934	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	SLC6A9_ENST00000537678.1_Missense_Mutation_p.L192V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.L192V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L276V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L330V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L146V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L257V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	330						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGGACAAACAGAATGGTCAGC	0.602000													4	66					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161507479	161507479	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr6:161507479A>T	ENST00000392142.4	+	8	2589	c.2441A>T	c.(2440-2442)aAa>aTa	p.K814I	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K814I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K814I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K814I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	814					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGGGCTTCCAAAGCACTTGGA	0.393000													4	50					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17931620	17931620	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:17931620C>T	ENST00000474627.3	-	3	404	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	84					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCCAGGGCCTCGCTGGGGACG	0.507000													3	41					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108218086	108218086	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:108218086G>C	ENST00000278616.4	+	59	9050	c.8665G>C	c.(8665-8667)Gat>Cat	p.D2889H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2889H|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2889	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding			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)		TGTACATATAGATCTAGGTAA	0.303000			"""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)			27	34					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6659244	6659244	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:6659244C>T	ENST00000377663.3	-	2	1473	c.1290G>A	c.(1288-1290)ctG>ctA	p.L430L	KLHL21_ENST00000467612.1_Silent_p.L63L|KLHL21_ENST00000377658.4_Silent_p.L430L|KLHL21_ENST00000463043.1_Silent_p.L63L			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	430					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CCTTGCCAGCCAGGGAGCCGA	0.667000													9	20					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100264199	100264199	+	RNA	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:100264199G>A	ENST00000515683.1	-	0	932				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGCACAGGTAGACCCTGGGGT	0.428000													13	170					0	0	1	0	0
NDP	4693	broad.mit.edu	37	X	43809246	43809246	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:43809246C>T	ENST00000378062.5	-	3	608	c.201G>A	c.(199-201)ggG>ggA	p.G67G	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	67	CTCK.		G -> E (in ND).|G -> R (in ND).		canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GGCTGCAGTGCCCCTCGCACC	0.577000											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	3					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784904	84784904	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:84784904T>A	ENST00000389394.3	+	11	1785	c.1648T>A	c.(1648-1650)Tca>Aca	p.S550T	DNAH6_ENST00000398278.2_Missense_Mutation_p.S550T|DNAH6_ENST00000237449.6_Missense_Mutation_p.S550T	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	550	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CACTGTGTTATCAGTTCCTAA	0.343000													13	119					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84547450	84547450	+	RNA	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr9:84547450G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							ATCTTCAGACGAGGATCTGAG	0.458000													18	7					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3150904	3150904	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr10:3150904G>A	ENST00000381075.2	+	11	1082	c.858G>A	c.(856-858)acG>acA	p.T286T	PFKP_ENST00000381125.4_Silent_p.T294T	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	294					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTGTCGTCACGCAGCTGGGCT	0.572000													12	66					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138409894	138409894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:138409894C>A	ENST00000477593.1	-	14	2057	c.1984G>T	c.(1984-1986)Gaa>Taa	p.E662*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.E662*|PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.E108*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	662	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGTGCTCTTTCTAATAGGAAT	0.368000													110	118					9.50027e-55	9.74596e-55	1	1	0
ASPM	259266	broad.mit.edu	37	1	197098362	197098362	+	Silent	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:197098362G>C	ENST00000367409.4	-	9	2971	c.2715C>G	c.(2713-2715)ctC>ctG	p.L905L	ASPM_ENST00000367408.1_Silent_p.L155L|ASPM_ENST00000294732.7_Silent_p.L905L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	905					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATGATCAATGAGTCTGGAAA	0.313000													4	67					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446556	107446556	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:107446556C>T	ENST00000409382.3	-	5	1894	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	ST6GAL2_ENST00000409087.3_Silent_p.K428K|ST6GAL2_ENST00000361686.4_Silent_p.K428K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	428					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTGGTTGAATCTTCTCTTTAG	0.373000													4	122					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729291	99729291	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr6:99729291T>A	ENST00000389677.5	-	6	1261	c.979A>T	c.(979-981)Agg>Tgg	p.R327W	FAXC_ENST00000538471.1_Missense_Mutation_p.R47W|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	327																	AATTTCCTCCTTATCCTCTCA	0.502000													6	63					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55618519	55618519	+	Silent	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr14:55618519C>G	ENST00000247191.2	-	17	2478	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L	DLGAP5_ENST00000395425.2_Silent_p.L754L	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	754					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGAAGAATTCAGTTCCATTC	0.358000													19	30					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102814993	102814993	+	Silent	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr14:102814993C>G	ENST00000216756.6	-	5	580	c.540G>C	c.(538-540)ctG>ctC	p.L180L	CINP_ENST00000541568.2_3'UTR|CINP_ENST00000536961.2_Silent_p.L195L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	180					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						ACAGGTAGCTCAGGGTGAGGT	0.607000													9	14					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971325	10971325	+	Missense_Mutation	SNP	G	G	A	rs139096194	byFrequency	TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr21:10971325G>A	ENST00000298232.7	-	5	399	c.32C>T	c.(31-33)gCg>gTg	p.A11V	TPTE_ENST00000342420.5_Missense_Mutation_p.A11V|TPTE_ENST00000361285.4_Missense_Mutation_p.A11V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	11					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A11V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGACTCCCGCCAGGTCAGT	0.448000													8	30					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274541	238274541	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:238274541C>G	ENST00000295550.4	-	12	6090	c.5638G>C	c.(5638-5640)Ggc>Cgc	p.G1880R	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1674R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1680R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1273R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1679R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1674R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1880	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCGAGCGGCCACCGCTGCAG	0.597000													44	63					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44918259	44918259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:44918259C>G	ENST00000377967.4	+	11	925	c.884C>G	c.(883-885)tCa>tGa	p.S295*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S295*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S295*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S295*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	295					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGGTGCTATTCAAGTATTGGG	0.353000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								30	35					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661963	77661963	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:77661963G>C	ENST00000296043.6	+	5	3590	c.2637G>C	c.(2635-2637)caG>caC	p.Q879H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	879					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGGCCCCCAGAGGCCGGACG	0.687000													10	16					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080088	152080088	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:152080088C>G	ENST00000368804.1	-	2	5604	c.5605G>C	c.(5605-5607)Gag>Cag	p.E1869Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1869	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTTCTGCTCCTCTTCTTGC	0.587000													33	85					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91851243	91851243	+	Silent	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:91851243C>G	ENST00000394507.1	-	15	2319	c.1536G>C	c.(1534-1536)gtG>gtC	p.V512V	KRIT1_ENST00000394505.2_Silent_p.V512V|KRIT1_ENST00000340022.2_Silent_p.V512V|KRIT1_ENST00000394503.2_Silent_p.V464V|KRIT1_ENST00000412043.2_Silent_p.V512V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	512	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGAAGTCTCACATCTCTTC	0.378000													4	64					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94517585	94517585	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr14:94517585C>T	ENST00000330836.5	-	9	2663	c.2532G>A	c.(2530-2532)ccG>ccA	p.P844P	DDX24_ENST00000555054.1_Silent_p.P801P|DDX24_ENST00000544005.1_Silent_p.P594P|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	844	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GTGGCTCCTTCGGCTTCTTTG	0.512000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	48					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690536	84690536	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:84690536C>T	ENST00000564996.1	+	3	264	c.123C>T	c.(121-123)ctC>ctT	p.L41L	KLHL36_ENST00000258157.5_Silent_p.L41L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	41										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGCAGCGTCTCCGCGGGCTCT	0.627000													55	60					0	0	1	0	0
CYBA	1535	broad.mit.edu	37	16	88717388	88717388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:88717388C>A	ENST00000569359.1	-	1	50	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	CYBA_ENST00000261623.3_Nonsense_Mutation_p.E12*|CYBA_ENST00000567174.1_Nonsense_Mutation_p.E12*|CYBA_ENST00000561972.1_5'UTR			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	12					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCGCCTGTTCGTTGGCCCAC	0.711000													5	3					0.0215528	0.0217354	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52613086	52613086	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:52613086G>A	ENST00000356770.4	-	20	3423	c.3421C>T	c.(3421-3423)Cgt>Tgt	p.R1141C	PBRM1_ENST00000409057.1_Missense_Mutation_p.R1173C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1173C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1173C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1188C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1148C|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1148C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1188C			Q86U86	PB1_HUMAN	polybromo 1	1173					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACACGAGGACGCACCAGGCCA	0.483000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								3	59					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618336	37618336	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr21:37618336T>A	ENST00000399151.3	+	19	4143	c.4058T>A	c.(4057-4059)aTc>aAc	p.I1353N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1353					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGTTTTGATCAGGATAATG	0.522000													40	39					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917523	144917523	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:144917523G>A	ENST00000529945.1	-	8	2509	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	PDE4DIP_ENST00000313382.9_Silent_p.L593L|PDE4DIP_ENST00000313431.9_Silent_p.L690L|PDE4DIP_ENST00000369349.3_Silent_p.L527L|PDE4DIP_ENST00000479408.2_Silent_p.L314L|PDE4DIP_ENST00000369359.4_Silent_p.L664L|PDE4DIP_ENST00000369356.4_Silent_p.L527L|PDE4DIP_ENST00000530740.1_Silent_p.L664L|PDE4DIP_ENST00000369354.3_Silent_p.L527L|PDE4DIP_ENST00000369351.3_Silent_p.L527L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	527					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATTGGAGGAGAGGACATCGC	0.473000			T	PDGFRB	MPD								70	405					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332489	22332489	+	RNA	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr15:22332489C>T	ENST00000558896.1	+	0	296																											AGCTATTTCTCTTATTACTAT	0.388000													45	128					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492489	71492489	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:71492489G>A	ENST00000296755.7	+	5	3605	c.3307G>A	c.(3307-3309)Gag>Aag	p.E1103K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1103						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGCTTCTGATGAGGAGAATCG	0.527000													16	17					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548244	136548244	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:136548244G>A	ENST00000264162.2	-	15	5329	c.5319C>T	c.(5317-5319)atC>atT	p.I1773I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1773	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGCCTCATTGATGTAAGTCC	0.517000													12	16					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749825	2749825	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:2749825G>A	ENST00000382611.6	-	2	574	c.326C>T	c.(325-327)cCg>cTg	p.P109L	IRX2_ENST00000302057.5_Missense_Mutation_p.P109L|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GAGCTGGTACGGGTAGGCCGC	0.677000													26	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533779	141533779	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:141533779G>C	ENST00000389484.3	-	33	6359	c.5388C>G	c.(5386-5388)aaC>aaG	p.N1796K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1796					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTGGGCTAAGTTTTGGTCTG	0.343000										TSP Lung(27;0.18)			6	52					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109606	54109606	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr12:54109606C>T	ENST00000548263.1	-	9	1279	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E411K|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E411K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E326K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	411					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCCCGCTCCTTGCTCCAT	0.597000													15	29					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75675615	75675615	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:75675615C>T	ENST00000319410.5	-	3	274	c.153G>A	c.(151-153)ctG>ctA	p.L51L	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.L23L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	23					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCGTCTCTTCAGCTCACTGT	0.483000													45	55					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64751242	64751242	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:64751242C>T	ENST00000374811.3	-	4	549	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAS1L_ENST00000374807.5_Missense_Mutation_p.R170H|LAS1L_ENST00000374804.5_Missense_Mutation_p.R128H|LAS1L_ENST00000312391.8_Missense_Mutation_p.R170H	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	170			R -> C (in a colorectal cancer sample; somatic mutation).			MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCACCTCTGCGGCAGTCATT	0.527000													17	50					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55618613	55618613	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr14:55618613C>T	ENST00000247191.2	-	17	2384	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R723K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	723					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAACTCATTCTCTCACTGGA	0.328000													17	26					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690923	84690923	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:84690923C>T	ENST00000564996.1	+	3	651	c.510C>T	c.(508-510)ttC>ttT	p.F170F	KLHL36_ENST00000258157.5_Silent_p.F170F	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	170	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGATGGCTTCATCCTGAACC	0.577000													16	34					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374738	48374738	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr19:48374738G>A	ENST00000222002.3	-	6	971	c.832C>T	c.(832-834)Cct>Tct	p.P278S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	278					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGCTCTCGAGGAAGATCTGCC	0.448000													27	37					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373820	11373820	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:11373820G>A	ENST00000528848.2	-	1	1084	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		TGGACAAAGCGTTCCCATCGC	0.458000													29	47					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184743	105184743	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr10:105184743G>A	ENST00000369797.3	+	20	2860	c.2766G>A	c.(2764-2766)ctG>ctA	p.L922L	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	922					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTTCTAGCTGAGGAAAGGCA	0.567000													32	38					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	63					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154743711	154743711	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr6:154743711G>A	ENST00000607772.1	-	9	1418	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	CNKSR3_ENST00000479339.1_Missense_Mutation_p.R212C|CNKSR3_ENST00000433165.2_Missense_Mutation_p.R117C	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	292	PDZ.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCGGTGGGGCGCTTCTTAAGC	0.488000													43	68					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391603	58391603	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:58391603G>C	ENST00000361987.4	+	2	291	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	71					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GACCGAGGCAGAGCGACTCCA	0.532000													19	26					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689974	33689974	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:33689974G>C	ENST00000394566.1	-	4	1125	c.853C>G	c.(853-855)Cat>Gat	p.H285D	SLFN11_ENST00000308377.4_Missense_Mutation_p.H285D	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	285						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCAAAAATGAACACAAGGT	0.408000													64	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179544759	179544759	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr2:179544759C>T	ENST00000589042.1	-	140	33666	c.33442G>A	c.(33442-33444)Gaa>Aaa	p.E11148K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9904K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10831K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10831	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGGTTCAAGTTCTTTA	0.373000													15	28					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143632	41143632	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:41143632G>C	ENST00000361677.1	+	5	1753	c.1741G>C	c.(1741-1743)Gag>Cag	p.E581Q		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	581	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CACAGGCTTTGAGAGTGCCCT	0.557000													16	20					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694935	247694935	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:247694935C>T	ENST00000366487.3	-	2	1240	c.879G>A	c.(877-879)ctG>ctA	p.L293L	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCGTGTTCCTCAGGGTGTAAA	0.547000													46	45					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103886	39103886	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr9:39103886G>A	ENST00000297668.6	-	16	2464	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	CNTNAP3_ENST00000377656.2_Silent_p.F796F|CNTNAP3_ENST00000358144.2_Silent_p.F709F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	797	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTCAGTGTTGAAGGAAGCTG	0.388000													7	3					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344314	118344314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:118344314C>T	ENST00000534358.1	+	3	2463	c.2440C>T	c.(2440-2442)Cag>Tag	p.Q814*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Q814*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Q814*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAGAAAAATCAGAGACCAAG	0.468000													30	32					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138943300	138943300	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:138943300C>G	ENST00000473989.3	+	4	730	c.730C>G	c.(730-732)Cta>Gta	p.L244V	UBN2_ENST00000288561.8_Missense_Mutation_p.L161V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CACTGGCACTCTACAGTTTCG	0.368000													35	48					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	11					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494221	110494221	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:110494221G>A	ENST00000324068.1	-	8	1249	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I	CAPN6_ENST00000541758.1_Missense_Mutation_p.T106I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	361	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATCATCCACAGTCCAGCATCC	0.483000													157	156					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													5	113					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79743932	79743932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:79743932C>T	ENST00000338008.5	+	7	2992	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q938*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q938*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	938					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGAGATAATTCAGAGTCCTAT	0.368000													17	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451201	25451201	+	RNA	SNP	G	G	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr15:25451201G>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTGAGGCCCTGTTTGGACCCA	0.622000													3	9					0.115264	0.115264	1	1	0
TPTE	7179	broad.mit.edu	37	21	10920138	10920138	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr21:10920138C>T	ENST00000298232.7	-	18	1429	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	TPTE_ENST00000342420.5_Silent_p.R334R|TPTE_ENST00000361285.4_Silent_p.R372R|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	372	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATCTGTTCGCCTTTCTCCAA	0.378000													18	110					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36117954	36117954	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:36117954G>C	ENST00000296603.4	-	10	1647	c.1185C>G	c.(1183-1185)atC>atG	p.I395M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	395						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACAGAGAAGATGGACAGAA	0.393000													12	16					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721129	20721129	+	Splice_Site	SNP	C	C	T	rs150650141		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:20721129C>T	ENST00000404938.2	+	15	2361	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	ABCB5_ENST00000258738.6_Splice_Site_p.A125V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	125	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A125V(1)|p.A570V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTCTGTAGGCGAGCAAAGGT	0.413000													22	38					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922708	150922708	+	Silent	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr5:150922708G>A	ENST00000261800.5	-	9	7992	c.7980C>T	c.(7978-7980)ttC>ttT	p.F2660F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2660	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCTTTGATGAAGAAGTCAA	0.458000													51	42					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70282785	70282785	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:70282785G>C	ENST00000374274.3	-	2	296	c.180C>G	c.(178-180)atC>atG	p.I60M	SNX12_ENST00000276105.3_Missense_Mutation_p.I56M|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	60	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTAGCTTGAAGATAGGTAGGT	0.458000													7	10					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736197	56736197	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr19:56736197C>T	ENST00000587340.1	-	4	914	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Silent_p.L73L|ZSCAN5A_ENST00000592355.1_Silent_p.L73L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCGGGCCTCAGCCACAGAT	0.552000													3	39					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77707410	77707410	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:77707410G>A	ENST00000328313.5	+	2	579	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	120					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGTGGTGGGACAACGGCAG	0.602000													18	20					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69456203	69456203	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr11:69456203C>T	ENST00000227507.2	+	1	349	c.122C>T	c.(121-123)tCg>tTg	p.S41L	CCND1_ENST00000536559.1_Missense_Mutation_p.S41L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	41	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.S41L(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCGCGCCCTCGGTGTCCTAC	0.652000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			29	38					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47699369	47699369	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:47699369C>T	ENST00000393331.3	-	5	609	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	SPOP_ENST00000347630.2_Missense_Mutation_p.E47K|SPOP_ENST00000504102.1_Missense_Mutation_p.E47K|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.E47K|SPOP_ENST00000503676.1_Missense_Mutation_p.E47K	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	47	MATH.				mRNA processing	nucleus	protein binding	p.E47K(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCACCCATTTCCTCCCGGCAA	0.353000										Prostate(2;0.17)			23	28					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135211731	135211731	+	Missense_Mutation	SNP	G	G	C	rs141974509		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr9:135211731G>C	ENST00000372169.2	-	6	852	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	SETX_ENST00000224140.5_Missense_Mutation_p.L224V|SETX_ENST00000393220.1_Missense_Mutation_p.L224V			Q7Z333	SETX_HUMAN	senataxin	224					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTGAGGGCAGAAGAATCAGT	0.348000													20	9					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34839202	34839202	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr18:34839202G>C	ENST00000420428.2	-	11	1670	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	CELF4_ENST00000412753.1_Missense_Mutation_p.I424M|CELF4_ENST00000361795.5_Missense_Mutation_p.I423M|CELF4_ENST00000591282.1_Missense_Mutation_p.I425M|CELF4_ENST00000588597.1_Missense_Mutation_p.I413M|CELF4_ENST00000603232.1_Missense_Mutation_p.I424M|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000601019.1_Missense_Mutation_p.I423M|CELF4_ENST00000591287.1_Missense_Mutation_p.I423M	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	425	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCAGATGGTAGATGAACAGGT	0.602000													22	30					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892883	44892883	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr22:44892883C>T	ENST00000341255.3	-	2	1063	c.554G>A	c.(553-555)cGg>cAg	p.R185Q		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	185										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TTGGGCGCGCCGCGCATGCCG	0.627000													10	8					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003961	69003961	+	Silent	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr15:69003961C>T	ENST00000543950.1	+	5	903	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CORO2B_ENST00000261861.5_Silent_p.F183F|CORO2B_ENST00000566799.1_Silent_p.F188F|CORO2B_ENST00000540068.1_Silent_p.F183F	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	188					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCATGTCCTTCAACACGGACG	0.577000													13	15					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43652676	43652676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:43652676C>T	ENST00000378069.4	-	8	1065	c.918G>A	c.(916-918)tgG>tgA	p.W306*	MAOB_ENST00000536181.1_Nonsense_Mutation_p.W290*|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W290*	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	306					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCTTTTTCCTCCAGAAAGGCT	0.368000													23	51					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	21	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52440365	52440370	+	In_Frame_Del	DEL	GTTGAA	GTTGAA	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr3:52440365_52440370delGTTGAA	ENST00000460680.1	-	9	1153_1158	c.682_687delTTCAAC	c.(682-687)ttcaacdel	p.FN228del	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	228					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCATCAGGTTGAAGCGGATGTCG	0.626			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							12	24	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8196560	8196578	+	Frame_Shift_Del	DEL	AAAAAAAAAAAAAAAAAAA	AAAAAAAAAAAAAAAAAAA	-	rs147272214		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA	ENST00000407906.1	-	8	1223_1241	c.972_990delTTTTTTTTTTTTTTTTTTT	c.(970-990)tttttttttttttttttttttfs	p.FFFFFFF324fs	ICA1_ENST00000396675.3_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000402384.3_Intron|ICA1_ENST00000265577.7_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	0					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa	0.370													2	4	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													3	6	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24803757	24803759	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr14:24803757_24803759delCAG	ENST00000310677.4	-	2	213_215	c.100_102delCTG	c.(100-102)ctgdel	p.L34del	ADCY4_ENST00000554068.2_In_Frame_Del_p.L34del|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_In_Frame_Del_p.L34del|RP11-934B9.3_ENST00000555591.1_Intron	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	34					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCACGATCCCCAGCAGCAGCAGC	0.700													3	4	---	---	---	---					
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1							nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709													4	4	---	---	---	---					
FBRS	64319	broad.mit.edu	37	16	30671164	30671166	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr16:30671164_30671166delGAG	ENST00000356166.6	+	1	1413_1415	c.325_327delGAG	c.(325-327)gagdel	p.E115del				Q9HAH7	FBRS_HUMAN	fibrosin	312										ovary(1)	1			Colorectal(24;0.103)			CGGggaggaagaggaggaggagg	0.734													2	4	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65822234	65822236	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr17:65822234_65822236delGAG	ENST00000321892.4	+	1	455_457	c.394_396delGAG	c.(394-396)gagdel	p.E138del	BPTF_ENST00000335221.5_In_Frame_Del_p.E138del|BPTF_ENST00000306378.6_In_Frame_Del_p.E138del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	138					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACGAGAGCgaggaggaggagg	0.700													2	4	---	---	---	---					
TUBB6	84617	broad.mit.edu	37	18	12325476	12325477	+	Frame_Shift_Ins	INS	-	-	CCGA			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chr18:12325476_12325477insCCGA	ENST00000317702.5	+	4	922_923	c.688_689insCCGA	c.(688-690)tccfs	p.-230fs	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCACCTGGTGTCCGCCACCATG	0.629													38	69	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123197751	123197752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-A8HI-01A-11D-A38G-08	TCGA-XF-A8HI-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c49aaf94-5376-463e-bbec-63c4c800c362	7f7b91c5-346e-478d-b9ca-a3df2010d480	g.chrX:123197751_123197752insA	ENST00000371160.1	+	20	2165_2166	c.1875_1876insA	c.(1876-1878)acafs	p.T626fs	STAG2_ENST00000371157.3_Frame_Shift_Ins_p.T626fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.T626fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.T626fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.T557fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.T626fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	626					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCACACAGATACAGATGTTTT	0.342													51	82	---	---	---	---