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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MTHFR	4524	broad.mit.edu	37	1	11854817	11854817	+	Missense_Mutation	SNP	G	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	uc001atc.1	-	7	1319	c.1135C>A	c.(1135-1137)CAG>AAG	p.Q379K	MTHFR_uc001atb.1_Missense_Mutation_p.Q402K	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	379					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582000													11	174					1.58986e-06	2.01383e-06	0.008291	1	0
MST1P2	11209	broad.mit.edu	37	1	16974216	16974216	+	RNA	SNP	G	C	C	rs140637426		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:16974216G>C	uc009vow.2	+	5		c.1026G>C			MST1P2_uc010ocg.1_RNA|MST1P2_uc010och.1_Intron|MST1P2_uc010oci.1_RNA|MST1P2_uc001azk.2_Intron|MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_Intron|MST1P2_uc001azm.3_Intron					Homo sapiens cDNA FLJ53774 complete cds, moderately similar to Hepatocyte growth factor-like protein precursor.												0						AGGCGGGTTTGGTCCCAGCCC	0.662000													3	12					0	0	0.004672	0	0
ARID1A	8289	broad.mit.edu	37	1	27100207	27100207	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	uc001bmv.1	+	16	4376	c.4003C>T	c.(4003-4005)CGA>TGA	p.R1335*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1334*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1335*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R952*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R181*|ARID1A_uc009vsm.1_Translation_Start_Site|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1335	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1334_R1335insQ(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.498000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								10	52					0	0	0.008291	0	0
DUSP27	92235	broad.mit.edu	37	1	167097454	167097454	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	uc001geb.1	+	5	3086	c.3086C>A	c.(3085-3087)ACC>AAC	p.T1029N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1029	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TACAACGAGACCTCAAGTTCC	0.562000													32	66					1.62565e-12	2.13016e-12	0.002445	1	0
KIFAP3	22920	broad.mit.edu	37	1	170003639	170003639	+	Splice_Site	SNP	T	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	uc001ggv.2	-	7	889	c.618_splice	c.e7-1	p.S206_splice	KIFAP3_uc010ply.1_Intron|KIFAP3_uc001ggw.1_Intron	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284000													29	38					0	0	0.002445	0	0
RGS13	6003	broad.mit.edu	37	1	192627429	192627429	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	uc001gsj.2	+	6	507	c.226C>T	c.(226-228)CGG>TGG	p.R76W	RGS13_uc001gsk.2_Missense_Mutation_p.R76W	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	76	RGS.					plasma membrane	GTPase activator activity|signal transducer activity				0						AATTGCCTCACGGTGGAGCAG	0.413000													11	91					0	0	0.001368	0	0
PTPRC	5788	broad.mit.edu	37	1	198677313	198677313	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	uc001gur.1	+	10	1130	c.950C>T	c.(949-951)ACT>ATT	p.T317I	PTPRC_uc001gus.1_Missense_Mutation_p.T269I|PTPRC_uc001gut.1_Missense_Mutation_p.T156I|PTPRC_uc009wzf.1_Missense_Mutation_p.T205I|PTPRC_uc010ppg.1_Missense_Mutation_p.T253I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	317	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAAGCAGATACTACTATTTGT	0.294000													51	72					0	0	0.003610	0	0
ANO2	57101	broad.mit.edu	37	12	5860068	5860068	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	uc001qnm.2	-	11	1184	c.1112C>T	c.(1111-1113)CCA>CTA	p.P371L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	376	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TACAGAAGATGGGATGAGGAA	0.348000													4	68					0	0	0.000602	0	0
CD163L1	283316	broad.mit.edu	37	12	7586027	7586027	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:7586027G>A	uc001qsy.2	-	3	414	c.388C>T	c.(388-390)CGG>TGG	p.R130W	CD163L1_uc010sge.1_Missense_Mutation_p.R130W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	130	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CCCCATTCCCGGTGTTGACAT	0.438000													6	212					0	0	0.001168	0	0
PRB1	5542	broad.mit.edu	37	12	11506852	11506852	+	Missense_Mutation	SNP	G	T	T	rs151023240		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:11506852G>T	uc001qzw.1	-	3	222	c.185C>A	c.(184-186)CCA>CAA	p.P62Q	PRB1_uc001qzu.1_Missense_Mutation_p.P62Q|PRB1_uc001qzv.1_Missense_Mutation_p.P62Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	123	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|4.		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele M).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.607000													35	571					4.32679e-17	5.76906e-17	0.006999	1	0
TBK1	29110	broad.mit.edu	37	12	64891776	64891776	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	uc001ssc.1	+	20	2157	c.2095G>A	c.(2095-2097)GGG>AGG	p.G699R		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	699	Potential.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299000													59	51					0	0	0.003610	0	0
C12orf63	374467	broad.mit.edu	37	12	97137849	97137849	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:97137849G>A	uc001tet.1	+	22	2962	c.2884G>A	c.(2884-2886)GCA>ACA	p.A962T		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	962										skin(6)|ovary(1)	7						CACTAAATATGCAAATCCATT	0.299000													10	82					0	0	0.006214	0	0
NUP37	79023	broad.mit.edu	37	12	102471196	102471196	+	Missense_Mutation	SNP	A	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:102471196A>C	uc001tjc.2	-	6	691	c.626T>G	c.(625-627)GTG>GGG	p.V209G	NUP37_uc009zub.1_Missense_Mutation_p.V209G	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	209					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						CATTAATGGCACTTGTTCTGA	0.403000													6	191					0	0	0.001984	0	0
NOS1	4842	broad.mit.edu	37	12	117768410	117768410	+	Silent	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	uc001twm.1	-	2	1151	c.465C>T	c.(463-465)CCC>CCT	p.P155P		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATTCCCGGGACCCGAGG	0.701000													43	64					0	0	0.003610	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958070	122958070	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	uc001ucn.2	-	14	2229	c.2098C>G	c.(2098-2100)CAG>GAG	p.Q700E	ZCCHC8_uc001ucl.2_Missense_Mutation_p.Q311E|ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q462E|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q462E|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q462E	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	700						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373000													33	54					0	0	0.001786	0	0
DNAH10	196385	broad.mit.edu	37	12	124401043	124401043	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	uc001uft.3	+	62	10433	c.10408G>A	c.(10408-10410)GAG>AAG	p.E3470K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3470	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453000													13	169					0	0	0.003163	0	0
ADAM6	8755	broad.mit.edu	37	14	107083291	107083291	+	RNA	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:107083291T>C	uc010tyt.1	-	113		c.5502A>G								Parts of antibodies, mostly variable regions.												0						TCCGCAGCGGTCACAGAGCTC	0.572000													8	144					0	0	0.001368	0	0
Unknown	0	broad.mit.edu	37	15	20644850	20644850	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:20644850G>A	uc001ytg.2	-	21	3117	c.2408C>T	c.(2407-2409)GCG>GTG	p.A803V	uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.A803V|uc010tyy.1_Missense_Mutation_p.A803V					RecName: Full=Putative HERC2-like protein 3;																		CATGTCCCTCGCCCTTTCGGT	0.463000													3	52					0	0	0.004672	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890478	23890478	+	Silent	SNP	A	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:23890478A>G	uc001ywj.3	-	1	698	c.603T>C	c.(601-603)TTT>TTC	p.F201F		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGGCCTTTAAAGGCATTCA	0.577000													7	130					0	0	0.003080	0	0
APBA2	321	broad.mit.edu	37	15	29390775	29390775	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	uc001zck.2	+	8	1541	c.1334C>T	c.(1333-1335)ACG>ATG	p.T445M	APBA2_uc010azj.2_Missense_Mutation_p.T433M|APBA2_uc010uat.1_Missense_Mutation_p.T433M|APBA2_uc001zcl.2_Missense_Mutation_p.T433M|APBA2_uc001zcm.1_Missense_Mutation_p.T137M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	445	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478000													29	42					0	0	0.006320	0	0
FBN1	2200	broad.mit.edu	37	15	48795985	48795985	+	Silent	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	uc001zwx.1	-	17	2440	c.2112A>G	c.(2110-2112)TCA>TCG	p.S704S		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	704	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483000													40	71					0	0	0.002522	0	0
VPS13C	54832	broad.mit.edu	37	15	62302717	62302717	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	uc002agz.2	-	13	1039	c.965G>T	c.(964-966)TGC>TTC	p.C322F	VPS13C_uc002aha.2_Missense_Mutation_p.C279F|VPS13C_uc002ahb.1_Missense_Mutation_p.C322F|VPS13C_uc002ahc.1_Missense_Mutation_p.C279F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	322					protein localization					ovary(2)	2						TTCTATGTTGCAATCCAGTTT	0.393000													55	120					3.19069e-20	4.33022e-20	0.003610	1	0
PRSS54	221191	broad.mit.edu	37	16	58324919	58324919	+	Silent	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:58324919G>A	uc002enf.2	-	4	602	c.207C>T	c.(205-207)TTC>TTT	p.F69F	PRSS54_uc002eng.2_Silent_p.F69F|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GGATGCAGCCGAAAGCCAGGT	0.627000													5	133					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	uc002gim.2	-	7	943	c.749C>T	c.(748-750)CCC>CTC	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	250	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).		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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGTGAGGATGGGCCTCCGGTT	0.577000		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			76	17					0	0	0.003610	0	0
C17orf48	56985	broad.mit.edu	37	17	10614361	10614361	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:10614361G>C	uc002gmt.2	+	4	1004	c.929G>C	c.(928-930)GGC>GCC	p.G310A	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	310							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CAAGCCTTTGGCACAGTTCAT	0.438000													45	77					0	0	0.003610	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706819	33706819	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr18:33706819G>C	uc010dmy.2	-	2	442	c.152C>G	c.(151-153)TCC>TGC	p.S51C	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	51	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TTGCCGTGTGGAAATTGCCAA	0.388000													6	175					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9069716	9069716	+	Silent	SNP	A	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	uc002mkp.2	-	3	17934	c.17730T>G	c.(17728-17730)ACT>ACG	p.T5910T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5912	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACACGCCCTTAGTACTTCTGC	0.498000													68	125					0	0	0.003610	0	0
RDH8	50700	broad.mit.edu	37	19	10127828	10127828	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	uc002mmr.2	+	2	448	c.199G>A	c.(199-201)GTG>ATG	p.V67M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	67					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627000													25	24					0	0	0.005443	0	0
ILVBL	10994	broad.mit.edu	37	19	15228815	15228815	+	Missense_Mutation	SNP	C	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:15228815C>G	uc002nam.2	-	10	1184	c.1063G>C	c.(1063-1065)GAC>CAC	p.D355H	ILVBL_uc010xof.1_5'UTR|ILVBL_uc010dzw.2_Missense_Mutation_p.D248H	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	355						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						AGGCGGAAGTCACACACAGTT	0.458000													6	115					0	0	0.001168	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881449	108881449	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:108881449T>C	uc010ywo.1	+	6	790	c.790T>C	c.(790-792)TTT>CTT	p.F264L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	264						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						CATCTCCCCTTTTATGAGGAA	0.408000													6	153					0	0	0.003080	0	0
SCN2A	6326	broad.mit.edu	37	2	166223805	166223805	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:166223805C>A	uc002udc.2	+	19	3889	c.3599C>A	c.(3598-3600)ACA>AAA	p.T1200K	SCN2A_uc002udd.2_Missense_Mutation_p.T1200K|SCN2A_uc002ude.2_Missense_Mutation_p.T1200K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1200	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTGAGGAAAACATGCTATAAG	0.418000													3	104					6.4e-05	7.84516e-05	0.004672	1	0
TTN	7273	broad.mit.edu	37	2	179422826	179422826	+	Silent	SNP	A	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:179422826A>G	uc010zfg.1	-	277	79775	c.79551T>C	c.(79549-79551)CTT>CTC	p.L26517L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20212L|TTN_uc010zfi.1_Silent_p.L20145L|TTN_uc010zfj.1_Silent_p.L20020L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27444							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTGCCTTAAGGGGGACAC	0.413000													7	175					0	0	0.001984	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702143	187702143	+	Silent	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:187702143G>A	uc002upu.1	-	5	673	c.633C>T	c.(631-633)TTC>TTT	p.F211F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	211					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGAGTTTTTGAATTCCTCCA	0.393000													6	147					0	0	0.001984	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								49	81					0	0	0.003610	0	0
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:239185809C>T	uc002vyc.2	-	3	493	c.256G>A	c.(256-258)GCA>ACA	p.A86T	PER2_uc010znv.1_Missense_Mutation_p.A86T|PER2_uc010znw.1_Missense_Mutation_p.A86T|PER2_uc010fyx.1_Missense_Mutation_p.A86T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383000													5	477					0	0	0.000602	0	0
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	A	A	rs144220014	by1000genomes	TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:243056808T>A	uc010zpd.1	+	3		c.269T>A			LOC728323_uc010zpe.1_RNA|LOC728323_uc010zpf.1_RNA|LOC728323_uc010zpg.1_Intron	NR_024437				Homo sapiens cDNA FLJ60027 complete cds, moderately similar to F-box only protein 25.												0						ATAGCGAAGATGGAGAAATAC	0.279000													3	49					0	0	0.004672	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	T	T	rs75468660		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						CTGATTCCAGGTGAGCTTATG	0.289000													4	12					8.12818e-05	9.80543e-05	0.001984	1	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:29628283G>C	uc010ztl.1	+	3	227	c.195G>C	c.(193-195)GGG>GGC	p.G65G	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						ATGAAGCAGGGGACATAGAAG	0.378000													6	140					0	0	0.004482	0	0
RBM39	9584	broad.mit.edu	37	20	34320047	34320047	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:34320047T>C	uc002xeb.2	-	4	456	c.112A>G	c.(112-114)AGC>GGC	p.S38G	RBM39_uc002xdz.2_Missense_Mutation_p.S14G|RBM39_uc002xea.2_5'UTR|RBM39_uc010gfn.2_5'UTR|RBM39_uc010zvm.1_Missense_Mutation_p.S38G|RBM39_uc002xeg.2_Missense_Mutation_p.S38G|RBM39_uc002xec.2_Missense_Mutation_p.S38G|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_5'UTR|RBM39_uc002xef.2_5'UTR|RBM39_uc010zvn.1_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	38					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398000													3	172					0	0	0.004672	0	0
SETD5	55209	broad.mit.edu	37	3	9476091	9476091	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	uc003brt.2	+	5	686	c.251C>A	c.(250-252)TCT>TAT	p.S84Y	SETD5_uc003brs.1_Missense_Mutation_p.S65Y|SETD5_uc003bru.2_Translation_Start_Site|SETD5_uc003brv.2_Translation_Start_Site	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532000													28	56					7.07758e-08	9.11688e-08	0.004656	1	0
ARPP21	10777	broad.mit.edu	37	3	35758847	35758847	+	Silent	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:35758847T>C	uc003cgb.2	+	13	1257	c.993T>C	c.(991-993)TTT>TTC	p.F331F	ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Silent_p.F297F|ARPP21_uc003cgf.2_Silent_p.F132F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	331						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GACAGCTCTTTCGGTTGGTAT	0.308000													3	162					0	0	0.000602	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302222	186302222	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:186302222C>A	uc003fqi.2	+	9	1076	c.856C>A	c.(856-858)CAT>AAT	p.H286N		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	286					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTCTAGGTACATATTTCCCG	0.468000													3	67					6.4e-05	7.84516e-05	0.004672	1	0
SRP72	6731	broad.mit.edu	37	4	57340227	57340227	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	uc003hbv.2	+	4	402	c.362G>A	c.(361-363)CGT>CAT	p.R121H	SRP72_uc010ihe.2_Missense_Mutation_p.R121H|SRP72_uc003hbw.1_5'UTR	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	121	TPR 2.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353000													23	27					0	0	0.007291	0	0
BBS12	166379	broad.mit.edu	37	4	123664857	123664857	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:123664857T>C	uc003ieu.2	+	2	2003	c.1810T>C	c.(1810-1812)TAT>CAT	p.Y604H		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	604					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						AACTCTCCTATATAACACTGC	0.408000									Bardet-Biedl_syndrome				6	85					0	0	0.001168	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:99715528C>T	uc011cuw.1	-	4		c.382G>A				NR_027503				Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.												0						AGCGGACAGTCGAAGCCCTTC	0.607000													6	18					0	0	0.001984	0	0
RAD50	10111	broad.mit.edu	37	5	131940537	131940537	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	uc003kxi.2	+	16	2951	c.2564A>G	c.(2563-2565)GAC>GGC	p.D855G	RAD50_uc003kxh.2_Missense_Mutation_p.D716G	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	855	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333000								Homologous_recombination					18	45					0	0	0.007413	0	0
TPBG	7162	broad.mit.edu	37	6	83075717	83075717	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:83075717A>G	uc003pjn.3	+	3	1975	c.1039A>G	c.(1039-1041)ATT>GTT	p.I347V	TPBG_uc010kbj.2_Missense_Mutation_p.I347V|TPBG_uc003pjo.2_Missense_Mutation_p.I347V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	347	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGTGACCCGATTCTTCCCCC	0.507000													6	135					0	0	0.001168	0	0
MCHR2	84539	broad.mit.edu	37	6	100382335	100382335	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	uc003pqh.1	-	5	961	c.646T>C	c.(646-648)TGC>CGC	p.C216R	MCHR2_uc003pqi.1_Missense_Mutation_p.C216R	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.264000													90	132					0	0	0.003610	0	0
C7orf58	79974	broad.mit.edu	37	7	120629721	120629721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:120629721C>T	uc003vjq.3	+	2	493	c.46C>T	c.(46-48)CGA>TGA	p.R16*	C7orf58_uc003vjr.1_Nonsense_Mutation_p.R16*|C7orf58_uc003vjs.3_Nonsense_Mutation_p.R16*	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	16						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					ATTTTGCCCCCGACCCTTCTT	0.597000													71	94					0	0	0.003610	0	0
UBN2	254048	broad.mit.edu	37	7	138982568	138982568	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	uc011kqr.1	+	18	4030	c.4030C>T	c.(4030-4032)CGG>TGG	p.R1344W		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1344										ovary(1)|skin(1)	2						TAAATTACCACGGAAATCTCA	0.418000													23	41					0	0	0.007291	0	0
GLDC	2731	broad.mit.edu	37	9	6644691	6644691	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	uc003zkc.2	-	2	450	c.257G>A	c.(256-258)AGC>AAC	p.S86N		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	86					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCATCAATGCTCTAAAATTA	0.463000													36	54					0	0	0.004878	0	0
CTSL2	1515	broad.mit.edu	37	9	99795313	99795313	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:99795313C>A	uc004awt.2	-	8	1120	c.923G>T	c.(922-924)GGC>GTC	p.G308V	CTSL2_uc010msi.2_Missense_Mutation_p.G308V|CTSL2_uc004awu.2_Missense_Mutation_p.G253V	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	308						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				GCCATTCGAGCCCCATTCTGG	0.418000													42	60					1.8453e-21	2.54986e-21	0.002522	1	0
PHC2	1912	broad.mit.edu	37	1	33797964	33797966	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	uc001bxg.1	-	10	1852_1854	c.1798_1800delAAG	c.(1798-1800)AAGdel	p.K600del	PHC2_uc001bxh.1_In_Frame_Del_p.K572del|PHC2_uc009vuh.1_In_Frame_Del_p.K601del|PHC2_uc001bxe.1_In_Frame_Del_p.K65del|PHC2_uc001bxf.1_In_Frame_Del_p.K15del	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	600					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581													129	259	---	---	---	---					
USP21	27005	broad.mit.edu	37	1	161132502	161132504	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:161132502_161132504delCTT	uc010pke.1	+	6	1256_1258	c.879_881delCTT	c.(877-882)TCCTTC>TCC	p.F294del	USP21_uc010pkc.1_In_Frame_Del_p.F294del|USP21_uc010pkd.1_In_Frame_Del_p.F294del|USP21_uc010pkf.1_In_Frame_Del_p.F294del	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	294					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTCCCTCCTTCTCTGGATAC	0.557													10	84	---	---	---	---					
API5	8539	broad.mit.edu	37	11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	uc010rfh.1	+	7	953_954	c.780_781delAT	c.(778-783)ACATATfs	p.T260fs	API5_uc010rfg.1_Frame_Shift_Del_p.T249fs|API5_uc001mxf.2_Frame_Shift_Del_p.T260fs|API5_uc010rfi.1_Frame_Shift_Del_p.T206fs|API5_uc001mxg.2_Frame_Shift_Del_p.T134fs	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	260_261					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GGTTTGTGACATATTTCTGTGA	0.376													70	166	---	---	---	---					
TCIRG1	10312	broad.mit.edu	37	11	67815190	67815192	+	In_Frame_Del	DEL	ACA	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:67815190_67815192delACA	uc001one.2	+	12	1490_1492	c.1382_1384delACA	c.(1381-1386)TACAAC>TAC	p.N462del	TCIRG1_uc001ong.2_In_Frame_Del_p.N246del|TCIRG1_uc001onh.2_In_Frame_Del_p.N164del|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	462	Helical; (Potential).		Missing (in OPTB1).		ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						GGCTTCATCTACAACGAGTGCTT	0.640													26	285	---	---	---	---					
GRAMD1B	57476	broad.mit.edu	37	11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	uc001pyx.2	+	9	1187_1190	c.858_861delACTA	c.(856-861)ACACTAfs	p.T286fs	GRAMD1B_uc001pyw.2_Frame_Shift_Del_p.T293fs|GRAMD1B_uc010rzw.1_Frame_Shift_Del_p.T246fs|GRAMD1B_uc010rzx.1_Frame_Shift_Del_p.T246fs|GRAMD1B_uc009zbe.1_Frame_Shift_Del_p.T282fs|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	286_287						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534													67	138	---	---	---	---					
STK31	56164	broad.mit.edu	37	7	23768774	23768792	+	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	uc003sws.3	+	6	456_474	c.389_407delTTCCTTTGGAGCTGCAGTT	c.(388-408)ATTCCTTTGGAGCTGCAGTTTfs	p.I130fs	STK31_uc003swt.3_Frame_Shift_Del_p.I107fs|STK31_uc011jze.1_Frame_Shift_Del_p.I130fs|STK31_uc010kuq.2_Frame_Shift_Del_p.I107fs	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	130_136	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT	0.356													19	125	---	---	---	---					
ZNF277	11179	broad.mit.edu	37	7	111936282	111936284	+	Splice_Site	DEL	AGA	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:111936282_111936284delAGA	uc003vge.2	+	4	512	c.383_splice	c.e4-1	p.E128_splice	ZNF277_uc003vgd.2_Splice_Site_p.E128_splice|ZNF277_uc003vgf.2_Splice_Site_p.E50_splice|ZNF277_uc003vgg.2_Splice_Site	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277							nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4						ATCTCTCAACAGAAGAACAAGAG	0.300													13	241	---	---	---	---					
RECQL4	9401	broad.mit.edu	37	8	145740580	145740580	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:145740580delT	uc003zdj.2	-	8	1469	c.1437delA	c.(1435-1437)CAAfs	p.Q479fs	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	479					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCGAAAGGCTTGGTGCCCCA	0.637			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				5	2	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814305	76814305	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	uc004ecp.3	-	29	6571	c.6339delT	c.(6337-6339)TTTfs	p.F2113fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.3_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2113	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.F2113fs*9(1)		haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TAGAAATGATAAATAATCGTC	0.289			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						54	12	---	---	---	---					
