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
MST1P2	11209	broad.mit.edu	37	1	16974585	16974585	+	RNA	SNP	C	T	T	rs142060675	by1000genomes	TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:16974585C>T	uc009vow.2	+	5		c.1395C>T			MST1P2_uc010ocg.1_RNA|MST1P2_uc010och.1_RNA|MST1P2_uc010oci.1_RNA|MST1P2_uc001azk.2_RNA|MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_RNA|MST1P2_uc001azm.3_RNA					Homo sapiens cDNA FLJ53774 complete cds, moderately similar to Hepatocyte growth factor-like protein precursor.												0						GAACTTCTGCCGGAACCCCGA	0.662000													4	115					0	0	0.047766	0	0
CNR2	1269	broad.mit.edu	37	1	24201559	24201559	+	Silent	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:24201559G>A	uc001bif.2	-	2	676	c.549C>T	c.(547-549)TTC>TTT	p.F183F		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	183	Extracellular (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGATCAGTGGGAAAAGCTCAG	0.567000													3	61					0	0	0.004672	0	0
RIT1	6016	broad.mit.edu	37	1	155870190	155870190	+	Missense_Mutation	SNP	A	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:155870190A>C	uc001fmh.1	-	6	836	c.649T>G	c.(649-651)TCA>GCA	p.S217A	RIT1_uc010pgr.1_Missense_Mutation_p.S181A	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	217					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CAAGTTACTGAATCTTTCTTC	0.418000													4	243					0	0	0.014758	0	0
CD46	4179	broad.mit.edu	37	1	207930382	207930382	+	Missense_Mutation	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	uc001hgc.2	+	2	277	c.121T>C	c.(121-123)TTT>CTT	p.F41L	CD46_uc001hgd.2_Missense_Mutation_p.F41L|CD46_uc001hge.2_Missense_Mutation_p.F41L|CD46_uc001hgf.2_Missense_Mutation_p.F41L|CD46_uc001hgg.2_Missense_Mutation_p.F41L|CD46_uc001hgh.2_Missense_Mutation_p.F41L|CD46_uc001hgi.2_Missense_Mutation_p.F41L|CD46_uc001hgj.2_Missense_Mutation_p.F41L|CD46_uc001hgk.2_Missense_Mutation_p.F41L|CD46_uc001hgl.2_Missense_Mutation_p.F41L|CD46_uc001hgm.2_Missense_Mutation_p.F41L|CD46_uc001hgn.2_Missense_Mutation_p.F41L|CD46_uc001hgo.2_Missense_Mutation_p.F41L|CD46_uc001hgp.2_Missense_Mutation_p.F41L	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	41	Extracellular (Potential).|Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						GCCACCAACATTTGAAGCTAT	0.413000													28	39					0	0	0.064281	0	0
C10orf10	11067	broad.mit.edu	37	10	45473211	45473211	+	Missense_Mutation	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:45473211T>C	uc001jbr.3	-	2	558	c.268A>G	c.(268-270)AGT>GGT	p.S90G	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	90						mitochondrion					0						TGCTGGCCACTGAAACGTGCG	0.677000													3	93					0	0	0.009096	0	0
OR51F2	119694	broad.mit.edu	37	11	4842846	4842846	+	Silent	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	uc010qyn.1	+	1	231	c.231C>T	c.(229-231)CTC>CTT	p.L77L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATTTCCTCTCTATGCTTT	0.458000													35	159					0	0	0.074837	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Silent	SNP	T	G	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:61161357T>G	uc010rlj.1	+	3	410	c.117T>G	c.(115-117)GGT>GGG	p.G39G	TMEM216_uc001nrn.1_5'UTR	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane					0						TATTGGCAGGTGTCCTGCTAC	0.438000													8	31					0	0	0.069288	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:71249545C>T	uc001oqr.1	+	1	475	c.444C>T	c.(442-444)TGC>TGT	p.C148C		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.|7.					extracellular region|keratin filament	structural constituent of epidermis				0						AGTCCAGCTGCTGTAAGCCCT	0.607000													6	468					0	0	0.080935	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:71249558T>A	uc001oqr.1	+	1	488	c.457T>A	c.(457-459)TGC>AGC	p.C153S		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						TAAGCCCTGCTGCTGCTCTTC	0.602000													6	482					0	0	0.080935	0	0
EXPH5	23086	broad.mit.edu	37	11	108383673	108383673	+	Missense_Mutation	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	uc001pkk.2	-	6	2672	c.2561C>T	c.(2560-2562)ACT>ATT	p.T854I	EXPH5_uc010rvy.1_Missense_Mutation_p.T666I|EXPH5_uc010rvz.1_Missense_Mutation_p.T698I|EXPH5_uc010rwa.1_Missense_Mutation_p.T778I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	854					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAGTATCAGTCAGTGCAGA	0.403000													41	120					0	0	0.048971	0	0
CCDC60	160777	broad.mit.edu	37	12	119909950	119909950	+	Missense_Mutation	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	uc001txe.2	+	3	787	c.322T>C	c.(322-324)TAT>CAT	p.Y108H	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	108										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448000													19	272					0	0	0.099896	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291161	1291161	+	Silent	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	uc002ckz.2	+	3	121	c.69C>T	c.(67-69)GGC>GGT	p.G23G	TPSAB1_uc010uux.1_5'UTR	NM_003294	NP_003285	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1 precursor	23					defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716000													4	43					0	0	0.009096	0	0
IFT140	9742	broad.mit.edu	37	16	1634358	1634358	+	Missense_Mutation	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	uc002cmb.2	-	11	1581	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	IFT140_uc002clz.2_Missense_Mutation_p.R58W	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	407										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GACATGGCCCGCTCGCTGAGG	0.587000													3	32					0	0	0.004672	0	0
FAHD1	81889	broad.mit.edu	37	16	1877307	1877307	+	Missense_Mutation	SNP	A	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	uc002cnc.1	+	1	83	c.77A>T	c.(76-78)AAC>ATC	p.N26I	HAGH_uc002cmz.2_5'Flank|HAGH_uc002cna.2_5'Flank|HAGH_uc010uvp.1_5'Flank|HAGH_uc002cnb.1_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.2_Missense_Mutation_p.N26I|FAHD1_uc010brz.2_Missense_Mutation_p.N26I	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing	26						mitochondrion	hydrolase activity|metal ion binding|protein binding				0						GTGGGGAGGAACTACGCGGAC	0.642000													4	102					0	0	0.014758	0	0
CDH8	1006	broad.mit.edu	37	16	61687702	61687702	+	Missense_Mutation	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:61687702G>A	uc002eog.1	-	12	2462	c.2210C>T	c.(2209-2211)ACG>ATG	p.T737M		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	737	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCGGGGCCGTGGGATCATT	0.502000													3	69					0	0	0.004672	0	0
PRPF8	10594	broad.mit.edu	37	17	1557307	1557307	+	Silent	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	uc002fte.2	-	38	6105	c.5991G>A	c.(5989-5991)GTG>GTA	p.V1997V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1997	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517000													42	188					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	T	T	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	uc002gim.2	-	8	1033	c.839G>A	c.(838-840)AGA>AAA	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	25					0	0	0.038395	0	0
SPOP	8405	broad.mit.edu	37	17	47688737	47688737	+	Missense_Mutation	SNP	T	G	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	uc010dbk.2	-	7	1195	c.563A>C	c.(562-564)GAT>GCT	p.D188A	SPOP_uc002ipb.2_Missense_Mutation_p.D188A|SPOP_uc002ipc.2_Missense_Mutation_p.D188A|SPOP_uc002ipd.2_Missense_Mutation_p.D188A|SPOP_uc002ipe.2_Missense_Mutation_p.D188A|SPOP_uc002ipf.2_Missense_Mutation_p.D188A|SPOP_uc002ipg.2_Missense_Mutation_p.D188A	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	188	Required for nuclear localization.|BTB.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						TCCTAACTCATCTGCCAGCCG	0.502000										Prostate(2;0.17)			101	149					0	0	0.048971	0	0
ZNF57	126295	broad.mit.edu	37	19	2917807	2917807	+	Missense_Mutation	SNP	A	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:2917807A>C	uc002lwr.2	+	4	1336	c.1188A>C	c.(1186-1188)CAA>CAC	p.Q396H	ZNF57_uc010xha.1_Missense_Mutation_p.Q364H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	396	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACAATGTGGGAAGG	0.428000													4	90					0	0	0.029380	0	0
ZNF57	126295	broad.mit.edu	37	19	2917842	2917842	+	Missense_Mutation	SNP	G	A	A	rs149690257	byFrequency	TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:2917842G>A	uc002lwr.2	+	4	1371	c.1223G>A	c.(1222-1224)CGA>CAA	p.R408Q	ZNF57_uc010xha.1_Missense_Mutation_p.R376Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	408	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCATTCCGAGGTCATTTG	0.428000													4	79					0	0	0.021553	0	0
OR1M1	125963	broad.mit.edu	37	19	9204306	9204306	+	Missense_Mutation	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	uc010xkj.1	+	1	386	c.386C>T	c.(385-387)CCA>CTA	p.P129L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						ATCTGCCACCCATTGCACTAC	0.552000													24	55					0	0	0.045515	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:40580666T>C	uc002omy.2	-	6	1908	c.1683A>G	c.(1681-1683)GAA>GAG	p.E561E	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.E561E|ZNF780A_uc010xvh.1_Silent_p.E562E	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	561	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388000													4	222					0	0	0.009096	0	0
COL5A2	1290	broad.mit.edu	37	2	189927953	189927953	+	Missense_Mutation	SNP	A	G	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	uc002uqk.2	-	27	2089	c.1814T>C	c.(1813-1815)ATA>ACA	p.I605T	COL5A2_uc010frx.2_Missense_Mutation_p.I181T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	605					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512000													48	75					0	0	0.048971	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	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 								35	62					0	0	0.111260	0	0
IRS1	3667	broad.mit.edu	37	2	227662186	227662186	+	Silent	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	uc002voh.3	-	1	1321	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	423	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGATGAAACCGCCATCGCTGG	0.607000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	148					0	0	0.021553	0	0
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	G	G	rs17850164		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr20:43836817A>G	uc002xni.2	+	2	936	c.879A>G	c.(877-879)ACA>ACG	p.T293T	SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.T293T	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	293	58 AA repeat 1.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383000													4	61					0	0	0.009096	0	0
LAMA5	3911	broad.mit.edu	37	20	60902023	60902023	+	Splice_Site	SNP	C	G	G			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr20:60902023C>G	uc002ycq.2	-	39	5180	c.5113_splice	c.e39-1	p.V1705_splice		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATGACACCTGGAGGCAGG	0.632000													3	94					0	0	0.004672	0	0
FRAS1	80144	broad.mit.edu	37	4	79186217	79186217	+	Silent	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr4:79186217G>A	uc003hlb.2	+	7	1082	c.642G>A	c.(640-642)CCG>CCA	p.P214P	FRAS1_uc003hkw.2_Silent_p.P214P|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	214	VWFC 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AATGTTGCCCGCAGTGCTCTG	0.478000													3	46					0	0	0.009096	0	0
KIAA1712	80817	broad.mit.edu	37	4	175220324	175220324	+	Missense_Mutation	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr4:175220324C>T	uc003itr.2	+	3	466	c.52C>T	c.(52-54)CGC>TGC	p.R18C	KIAA1712_uc010iro.2_Missense_Mutation_p.R18C|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	18						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		ACAGGTGCTCCGCTTGCTAAA	0.358000													39	39					0	0	0.045515	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569170	64569170	+	Silent	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:64569170T>C	uc003jtp.2	-	12	2431	c.1617A>G	c.(1615-1617)AAA>AAG	p.K539K	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.K160K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	539	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCTTACCCCTTTTTCAATAT	0.408000													4	259					0	0	0.014758	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458908	26458908	+	Missense_Mutation	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	uc003nib.1	+	2	256	c.44T>C	c.(43-45)CTC>CCC	p.L15P	BTN2A1_uc003nic.1_Missense_Mutation_p.L15P|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_Intron	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	15					lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						CCAGCCTCCCTCCTCCTCCTC	0.582000													5	183					0	0	0.038147	0	0
KPNA5	3841	broad.mit.edu	37	6	117019898	117019898	+	Missense_Mutation	SNP	G	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	uc003pxh.2	+	5	503	c.372G>C	c.(370-372)CAG>CAC	p.Q124H		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	121	ARM 2.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGTTATACAGAAACCAGGAG	0.299000													4	19					0	0	0.021553	0	0
ABCA13	154664	broad.mit.edu	37	7	48390284	48390284	+	Missense_Mutation	SNP	T	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	uc003toq.2	+	30	10274	c.10249T>C	c.(10249-10251)TTC>CTC	p.F3417L	ABCA13_uc010kys.1_Missense_Mutation_p.F491L|ABCA13_uc003tos.1_Missense_Mutation_p.F243L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3417					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CGCTGGACGCTTCCGTTTCTT	0.522000													42	70					0	0	0.048971	0	0
TRPV5	56302	broad.mit.edu	37	7	142630466	142630466	+	Missense_Mutation	SNP	G	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	uc003wby.1	-	1	355	c.91C>A	c.(91-93)CAG>AAG	p.Q31K	TRPV5_uc003wbz.2_Missense_Mutation_p.Q31K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	31	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567000													4	97					1.23904e-05	1.4808e-05	0.014758	1	0
ZC3H3	23144	broad.mit.edu	37	8	144620440	144620440	+	Missense_Mutation	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	uc003yyd.2	-	2	1126	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	366					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627000													4	130					0	0	0.009096	0	0
DOCK8	81704	broad.mit.edu	37	9	371468	371468	+	Missense_Mutation	SNP	G	A	A			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	uc003zgf.2	+	17	2021	c.1909G>A	c.(1909-1911)GCT>ACT	p.A637T	DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A569T|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Missense_Mutation_p.A95T|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	637					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGCTCCCCGCTAAGCTCAC	0.418000													51	67					0	0	0.048971	0	0
COL4A5	1287	broad.mit.edu	37	X	107821211	107821211	+	Silent	SNP	A	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	uc004enz.1	+	11	841	c.639A>T	c.(637-639)GGA>GGT	p.G213G	COL4A5_uc011mso.1_Silent_p.G213G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	213	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GACTTCCAGGACCTAAGGTAA	0.313000									Alport_syndrome_with_Diffuse_Leiomyomatosis				18	1					0	0	0.055883	0	0
THOC2	57187	broad.mit.edu	37	X	122758005	122758005	+	Missense_Mutation	SNP	C	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	uc004etu.2	-	27	3256	c.3224G>A	c.(3223-3225)CGG>CAG	p.R1075Q	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1075					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCCAGTTGCCCGTAATATGGT	0.328000													27	4					0	0	0.050027	0	0
MBL2	4153	broad.mit.edu	37	10	54527961	54527961	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	uc001jjt.2	-	4	748	c.683delA	c.(682-684)AATfs	p.N228fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	228	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						CCACTGGCCATTTTTCAGTAG	0.483													7	579	---	---	---	---					
MTMR15	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr15:31196894delA	uc001zff.2	+	2	319	c.28delA	c.(28-30)AAAfs	p.K10fs	MTMR15_uc001zfc.3_Frame_Shift_Del_p.K10fs|MTMR15_uc010azw.2_Frame_Shift_Del_p.K10fs|MTMR15_uc001zfd.3_Frame_Shift_Del_p.K10fs|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	10					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		ACCTCCTGACAAAAAAAGGCC	0.353								Direct_reversal_of_damage|Editing_and_processing_nucleases					7	128	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578474	7578475	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	uc002gim.2	-	5	649_650	c.455_456insCC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P20fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P152fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.P59fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P20fs|TP53_uc010vug.1_Frame_Shift_Ins_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P153fs*28(8)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(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)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			44	91	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18024582	18024582	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	uc010vxh.1	+	2	2806	c.2468delC	c.(2467-2469)TCCfs	p.S823fs		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	823	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CTGCAGGAGTCCCCAGCCCCA	0.692													2	4	---	---	---	---					
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	uc002kuc.2	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)GGCGCCGGCdel	p.GAG97del	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	97_99	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.593													5	1	---	---	---	---					
RAD54L2	23132	broad.mit.edu	37	3	51624506	51624508	+	In_Frame_Del	DEL	GAG	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	uc011bdt.1	+	2	195_197	c.70_72delGAG	c.(70-72)GAGdel	p.E30del	RAD54L2_uc003dbh.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	30						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.429													2	4	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37044565	37044565	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	uc003jkl.3	+	35	6724	c.6225delG	c.(6223-6225)AAGfs	p.K2075fs	NIPBL_uc003jkk.3_Frame_Shift_Del_p.K2075fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2075					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTAATGAAGCTCATCATCA	0.328													48	68	---	---	---	---					
Unknown	0	broad.mit.edu	37	M	310	311	+	Splice_Site	INS	-	C	C			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrM:310_311insC	uc004coq.3	-	1		c.56_splice	c.e1+1		uc004cor.1_5'Flank|uc004cos.3_5'Flank					Homo sapiens cDNA: FLJ22857 fis, clone KAT01615.																		AAACCCCCCCCTCCCCCCGCTT	0.411													9	15	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855018	76855019	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	uc004ecp.3	-	25	6049_6050	c.5817_5818insA	c.(5815-5820)AAAGATfs	p.K1939fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.K1901fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.K1724fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1939_1940					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GAGCTACTATCTTTTTTCCCCT	0.327			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						204	91	---	---	---	---					
