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
RANBP2	5903	broad.mit.edu	37	2	109384409	109384409	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:109384409T>A	ENST00000283195.6	+	20	7540	c.7414T>A	c.(7414-7416)Tta>Ata	p.L2472I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2472					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAGCTGTATTAGAAGAAAC	0.428000													6	456					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	9					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22285639	22285639	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:22285639C>T	ENST00000407142.1	-	4	1328	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M|PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	258					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGCGCACACACACCTGTGGTG	0.622000													26	25					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312879	52312879	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr12:52312879A>G	ENST00000550683.1	+	8	1500	c.1399A>G	c.(1399-1401)Aac>Gac	p.N467D	ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	453	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACCATCCCTAACCGGCTGGC	0.587000													3	41					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80885834	80885834	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:80885834G>T	ENST00000355528.4	+	30	2793	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L	TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCTGGCTCGGAGCCAGCCT	0.637000													3	55					1	1	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90816388	90816388	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr4:90816388G>T	ENST00000394980.1	+	2	585	c.266G>T	c.(265-267)aGt>aTt	p.S89I	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I			Q13201	MMRN1_HUMAN	multimerin 1	89					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAGAAACAAGTGCACCTGCT	0.493000													4	55					0.00909568	0.00966416	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100339848	100339848	+	RNA	SNP	C	C	T	rs142059153	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:100339848C>T	ENST00000341853.1	-	0	1078					NR_003260.1																						TGCAGCTAGGCGTCGTCCACG	0.637000													5	26					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													4	15					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	9					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652000													3	31					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955132	33955132	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:33955132G>A	ENST00000389232.4	+	35	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1801	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGATTACCCGAATCCGTCAA	0.512000													4	126					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								32	54					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434080	69434080	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr8:69434080G>A	ENST00000337103.4	+	5	2071	c.479G>A	c.(478-480)gGa>gAa	p.G160E	C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	185					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CGTGTGATTGGAGAATGGATT	0.403000													15	31					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969621	112969621	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:112969621G>T	ENST00000495514.1	+	4	1021	c.317G>T	c.(316-318)tGt>tTt	p.C106F	BOC_ENST00000355385.3_Missense_Mutation_p.C106F|BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	106	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGTACCAGTGTGTGGCCCGG	0.622000													6	31					0.00116845	0.00128152	1	1	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889																											ATCTTCGTAAAGTGGATGATT	0.423000													3	53					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133194	133194	+	Silent	SNP	G	G	A	rs4986985	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr16:133194G>A	ENST00000219431.4	+	4	690	c.459G>A	c.(457-459)ccG>ccA	p.P153P	MPG_ENST00000397817.1_Silent_p.P136P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	153					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCATGAAGCCGGGGACCCTGT	0.632000								Base excision repair (BER), DNA glycosylases					17	190					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32588988	32588988	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:32588988G>A	ENST00000400236.3	-	4	1392	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	153							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCCGATTGCGCCTGATTTTG	0.522000													5	102					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115142186	115142186	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr5:115142186T>C	ENST00000250535.4	-	4	989	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	145					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	GTATGGCTGATGTTCTCTACT	0.413000													14	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	3					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:4903765C>T	ENST00000380378.1	+	1	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443000													8	73					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368303	215368303	+	Silent	SNP	C	C	T	rs149941939	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAGGTGGATCCGATATTGAAT	0.373000													19	139					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907676	12907676	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:12907676C>T	ENST00000317869.6	-	2	692	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCACTTTTGCCCCTTCGTGA	0.507000													18	342					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	40					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033344	30033344	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:30033344C>G	ENST00000328224.6	-	2	2115	c.882G>C	c.(880-882)tgG>tgC	p.W294C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	294						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAAGAGGAGCCAAATCTGCT	0.507000													4	51					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76845304	76845304	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chrX:76845304C>T	ENST00000373344.5	-	27	6431	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2035S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2073	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTAGCTCACCTTTATAAATA	0.323000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	2					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692000													7	11					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085171	17085171	+	RNA	SNP	T	T	C	rs142276525	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:17085171T>C	ENST00000455405.2	-	0	105																											ACTCGTAACCTGGGGGGGTCC	0.577000													3	26					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121838286	121838287	+	Splice_Site	INS	-	-	A			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:121838286_121838287insA	ENST00000330540.2	+	7	1011_1012	c.895_896insA	c.(895-897)gaa>gAaa	p.E299fs	CD86_ENST00000264468.5_Splice_Site_p.E86fs|CD86_ENST00000393627.2_Splice_Site_p.E293fs|CD86_ENST00000469710.1_Splice_Site_p.E217fs|CD86_ENST00000493101.1_Splice_Site_p.E187fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	299					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCTCCAGAGAAAAAATCCAT	0.337													34	56	---	---	---	---					
