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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
ANK3	288	broad.mit.edu	37	10	61946480	61946480	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61946480C>A	uc001jky.2	-	c.2078G>T	c.(2077-2079)AGC>ATC	p.S693I	ANK3_uc010qih.1_Missense_Mutation_p.S676I|ANK3_uc001jkz.3_Missense_Mutation_p.S687I|ANK3_uc001jlb.1_Missense_Mutation_p.S222I|ANK3_uc001jlc.1_Missense_Mutation_p.S354I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	693					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.173913	8.588245	10.894565	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61946480	61946480	625	10	C	A	A	A	364	28	ANK3	2	2
ITIH5	80760	broad.mit.edu	37	10	7621881	7621881	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7621881T>A	uc001ijq.2	-	c.1255A>T	c.(1255-1257)ATC>TTC	p.I419F	ITIH5_uc001ijp.2_Missense_Mutation_p.I205F|ITIH5_uc001ijr.1_Missense_Mutation_p.I419F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	419	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.093023	1.669476	8.833636	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7621881	7621881	8211	10	T	A	A	A	650	50	ITIH5	3	3
ART1	417	broad.mit.edu	37	11	3681250	3681250	+	Silent	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3681250C>T	uc001lye.1	+	c.501C>T	c.(499-501)AGC>AGT	p.S167S	ART1_uc009yeb.1_Silent_p.S167S	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	167					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)									0.072727	-1.698135	8.590554	4	51	KEEP	---	---	---	---	capture		Silent	SNP	3681250	3681250	1015	11	C	T	T	T	350	27	ART1	1	1
OR51A7	119687	broad.mit.edu	37	11	4929450	4929450	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4929450C>T	uc010qyq.1	+	c.851C>T	c.(850-852)CCC>CTC	p.P284L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.266667	72.95332	78.12405	28	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4929450	4929450	11498	11	C	T	T	T	286	22	OR51A7	2	2
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55798207G>A	uc010riw.1	+	c.313G>A	c.(313-315)GCT>ACT	p.A105T		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.163636	15.086742	20.962591	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55798207	55798207	11556	11	G	A	A	A	494	38	OR5AS1	1	1
OR2D3	120775	broad.mit.edu	37	11	6942529	6942529	+	Silent	SNP	T	C	C			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6942529T>C	uc010rav.1	+	c.297T>C	c.(295-297)GTT>GTC	p.V99V		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.359281	184.04036	186.95717	60	107	KEEP	---	---	---	---	capture		Silent	SNP	6942529	6942529	11401	11	T	C	C	C	795	62	OR2D3	4	4
SHANK2	22941	broad.mit.edu	37	11	70331681	70331681	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70331681C>G	uc001oqc.2	-	c.4717G>C	c.(4717-4719)GAT>CAT	p.D1573H	SHANK2_uc010rqn.1_Missense_Mutation_p.D985H|SHANK2_uc001opz.2_Missense_Mutation_p.D978H|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.309278	88.154574	91.276118	30	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70331681	70331681	14757	11	C	G	G	G	416	32	SHANK2	3	3
GOLGA3	2802	broad.mit.edu	37	12	133385015	133385015	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133385015G>A	uc001ukz.1	-	c.640C>T	c.(640-642)CGC>TGC	p.R214C	GOLGA3_uc001ula.1_Missense_Mutation_p.R214C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R214C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	214	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.267327	200.676945	215.419607	81	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133385015	133385015	6823	12	G	A	A	A	494	38	GOLGA3	1	1
SLC6A13	6540	broad.mit.edu	37	12	346415	346415	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:346415C>G	uc001qic.1	-	c.605G>C	c.(604-606)GGG>GCG	p.G202A	SLC6A13_uc009zdj.1_Missense_Mutation_p.G202A|SLC6A13_uc010sdl.1_Missense_Mutation_p.G110A|SLC6A13_uc010sdm.1_Missense_Mutation_p.G83A	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	202	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)											0.070423	-2.55225	10.939735	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	346415	346415	15173	12	C	G	G	G	286	22	SLC6A13	3	3
MYH7	4625	broad.mit.edu	37	14	23883310	23883310	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23883310G>A	uc001wjx.2	-	c.5561C>T	c.(5560-5562)ACG>ATG	p.T1854M		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1854	Potential.		T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.298246	44.351725	46.426427	17	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23883310	23883310	10434	14	G	A	A	A	520	40	MYH7	1	1
SLC28A2	9153	broad.mit.edu	37	15	45555437	45555437	+	Silent	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45555437G>A	uc001zva.2	+	c.441G>A	c.(439-441)ACG>ACA	p.T147T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	147					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		NSCLC(92;493 1501 26361 28917 47116)								0.380952	46.88807	47.410771	16	26	KEEP	---	---	---	---	capture		Silent	SNP	45555437	45555437	15029	15	G	A	A	A	470	37	SLC28A2	1	1
STOML1	9399	broad.mit.edu	37	15	74281502	74281502	+	Missense_Mutation	SNP	A	C	C			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74281502A>C	uc002awe.2	-	c.337T>G	c.(337-339)TCC>GCC	p.S113A	STOML1_uc002awf.2_Missense_Mutation_p.S113A|STOML1_uc010bje.2_Missense_Mutation_p.S113A|STOML1_uc010uld.1_Missense_Mutation_p.S71A|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.S26A	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	113	Cytoplasmic (Potential).					integral to membrane	sterol binding				0														0.233333	15.310338	17.26406	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74281502	74281502	15833	15	A	C	C	C	143	11	STOML1	4	4
ABCC12	94160	broad.mit.edu	37	16	48145406	48145406	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48145406C>T	uc002efc.1	-	c.2222G>A	c.(2221-2223)GGA>GAA	p.G741E	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	741						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.148571	43.494989	64.335529	26	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48145406	48145406	53	16	C	T	T	T	390	30	ABCC12	2	2
TAF1C	9013	broad.mit.edu	37	16	84213451	84213451	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84213451G>C	uc002fhn.2	-	c.1706C>G	c.(1705-1707)GCT>GGT	p.A569G	TAF1C_uc002fhm.2_Missense_Mutation_p.A475G|TAF1C_uc010vnx.1_Missense_Mutation_p.A543G|TAF1C_uc010vny.1_Missense_Mutation_p.A160G|TAF1C_uc010vnz.1_Missense_Mutation_p.A237G|TAF1C_uc002fho.2_Missense_Mutation_p.A92G|TAF1C_uc010voa.1_Missense_Mutation_p.A237G|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	569					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|general RNA polymerase II transcription factor activity|RNA polymerase I transcription factor activity			ovary(1)	1														0.545455	17.449582	17.469369	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84213451	84213451	16042	16	G	C	C	C	442	34	TAF1C	3	3
DEF8	54849	broad.mit.edu	37	16	90028237	90028237	+	Missense_Mutation	SNP	C	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90028237C>A	uc002fpn.1	+	c.955C>A	c.(955-957)CGC>AGC	p.R319S	DEF8_uc002fpo.1_Missense_Mutation_p.R258S|DEF8_uc002fpp.1_Missense_Mutation_p.R248S|DEF8_uc010vpq.1_Missense_Mutation_p.R198S|DEF8_uc010vpr.1_Missense_Mutation_p.R258S|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	319					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)										0.2	14.438563	16.945871	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90028237	90028237	4558	16	C	A	A	A	247	19	DEF8	1	1
ZBTB4	57659	broad.mit.edu	37	17	7369753	7369753	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7369753G>A	uc002ghc.3	-	c.368C>T	c.(367-369)CCC>CTC	p.P123L	ZBTB4_uc002ghd.3_Missense_Mutation_p.P123L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)										0.428571	10.024907	10.055825	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7369753	7369753	18127	17	G	A	A	A	559	43	ZBTB4	2	2
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73818612C>G	uc002jpm.2	+	c.2120C>G	c.(2119-2121)TCC>TGC	p.S707C		NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.244186	52.970165	58.074584	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73818612	73818612	17559	17	C	G	G	G	390	30	UNK	3	3
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	C	C			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578442T>C	uc002gim.2	-	c.488A>G	c.(487-489)TAC>TGC	p.Y163C	TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	163	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (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 gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(92)|p.0?(6)|p.Y163S(4)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		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)		Pancreas(47;798 1329 9957 10801)		111	p.Y163C(HCC1954-Tumor)|p.Y163C(PEER-Tumor)|p.Y163C(BEN-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.318182	34.884727	36.206859	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578442	7578442	16923	17	T	C	C	C	741	57	TP53	4	4
TYK2	7297	broad.mit.edu	37	19	10478970	10478970	+	Splice_Site_SNP	SNP	C	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10478970C>A	uc002moc.3	-	c.317_splice	c.e4+1	p.R106_splice	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Splice_Site_SNP_p.R106_splice	NM_003331	NP_003322			tyrosine kinase 2						intracellular protein kinase cascade|protein phosphorylation|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(2)|lung(2)|breast(1)	5			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)						(SNU489-Tumor)	414				0.45977	120.343704	120.470408	40	47	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	10478970	10478970	17367	19	C	A	A	A	234	18	TYK2	5	2
CD244	51744	broad.mit.edu	37	1	160808748	160808748	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160808748C>G	uc009wtq.2	-	c.762G>C	c.(760-762)AAG>AAC	p.K254N	CD244_uc001fxa.2_Missense_Mutation_p.K249N|CD244_uc009wtp.2_Non-coding_Transcript|CD244_uc009wtr.2_Missense_Mutation_p.K157N|CD244_uc010pjt.1_Non-coding_Transcript	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	254	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.238095	27.124976	29.760798	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160808748	160808748	3115	1	C	G	G	G	415	32	CD244	3	3
CDC42	998	broad.mit.edu	37	1	22413237	22413237	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22413237G>A	uc010odr.1	+	c.499G>A	c.(499-501)GAC>AAC	p.D167N	CDC42_uc009vqg.1_Missense_Mutation_p.D122N|CDC42_uc001bfp.2_Missense_Mutation_p.D122N|CDC42_uc001bfq.2_Missense_Mutation_p.D122N|CDC42_uc001bfr.2_Missense_Mutation_p.D122N|CDC42_uc010ods.1_Missense_Mutation_p.D164N|CDC42_uc009vqh.2_Missense_Mutation_p.D81N	NM_001039802	NP_001782	P60953	CDC42_HUMAN	cell division cycle 42 isoform 1	122					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			haematopoietic_and_lymphoid_tissue(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)						78				0.148148	36.91136	59.559624	28	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22413237	22413237	3199	1	G	A	A	A	585	45	CDC42	2	2
GNL2	29889	broad.mit.edu	37	1	38033912	38033912	+	Missense_Mutation	SNP	G	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38033912G>T	uc001cbk.2	-	c.1915C>A	c.(1915-1917)CAA>AAA	p.Q639K		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	639					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)												0.278689	50.464053	53.14196	17	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38033912	38033912	6805	1	G	T	T	T	624	48	GNL2	2	2
PTPRF	5792	broad.mit.edu	37	1	44086229	44086229	+	Silent	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44086229G>A	uc001cjr.2	+	c.5343G>A	c.(5341-5343)GAG>GAA	p.E1781E	PTPRF_uc001cjs.2_Silent_p.E1772E|PTPRF_uc001cju.2_Silent_p.E1170E|PTPRF_uc009vwt.2_Silent_p.E1341E|PTPRF_uc001cjv.2_Silent_p.E1252E|PTPRF_uc001cjw.2_Silent_p.E1007E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1781	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.289474	91.744761	96.264489	33	81	KEEP	---	---	---	---	capture		Silent	SNP	44086229	44086229	13258	1	G	A	A	A	464	36	PTPRF	2	2
CST5	1473	broad.mit.edu	37	20	23858221	23858221	+	Missense_Mutation	SNP	T	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23858221T>G	uc002wtr.1	-	c.266A>C	c.(265-267)AAG>ACG	p.K89T		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	89						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0														0.166667	15.467686	20.52698	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23858221	23858221	4116	20	T	G	G	G	728	56	CST5	4	4
GART	2618	broad.mit.edu	37	21	34897281	34897281	+	Silent	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34897281G>A	uc002yrx.2	-	c.1093C>T	c.(1093-1095)CTG>TTG	p.L365L	GART_uc002yrz.2_Silent_p.L365L|GART_uc010gmd.2_Silent_p.L27L|GART_uc002yry.2_Silent_p.L365L|GART_uc002ysa.2_Silent_p.L365L	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	365					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.333333	74.596052	76.589678	27	54	KEEP	---	---	---	---	capture		Silent	SNP	34897281	34897281	6507	21	G	A	A	A	464	36	GART	2	2
ABCG5	64240	broad.mit.edu	37	2	44047199	44047199	+	Missense_Mutation	SNP	A	C	C	rs79482684	by1000genomes	TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44047199A>C	uc002rtn.2	-	c.1504T>G	c.(1504-1506)TTT>GTT	p.F502V	ABCG5_uc002rtm.2_Missense_Mutation_p.F107V|ABCG5_uc002rto.2_Missense_Mutation_p.F331V|ABCG5_uc002rtp.2_Missense_Mutation_p.F107V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	502	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.307692	25.593941	26.448993	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44047199	44047199	72	2	A	C	C	C	13	1	ABCG5	4	4
FOXN2	3344	broad.mit.edu	37	2	48602224	48602224	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48602224G>A	uc002rwh.1	+	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	313					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)											0.138889	8.399178	12.895544	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48602224	48602224	6266	2	G	A	A	A	520	40	FOXN2	1	1
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142499837G>A	uc003evc.2	+	c.926G>A	c.(925-927)CGT>CAT	p.R309H	TRPC1_uc003evb.2_Missense_Mutation_p.R275H	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	309	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.266667	42.780841	45.726482	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142499837	142499837	17129	3	G	A	A	A	520	40	TRPC1	1	1
SHOX2	6474	broad.mit.edu	37	3	157817685	157817685	+	Silent	SNP	A	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:157817685A>G	uc003fbs.2	-	c.738T>C	c.(736-738)TAT>TAC	p.Y246Y	SHOX2_uc010hvw.2_Silent_p.Y222Y|SHOX2_uc003fbr.2_Silent_p.Y222Y	NM_003030	NP_003021	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform b	222					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)											0.447368	48.471237	48.562583	17	21	KEEP	---	---	---	---	capture		Silent	SNP	157817685	157817685	14784	3	A	G	G	G	102	8	SHOX2	4	4
SMC4	10051	broad.mit.edu	37	3	160135665	160135665	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160135665C>G	uc003fdh.2	+	c.1592C>G	c.(1591-1593)TCT>TGT	p.S531C	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.S295C|SMC4_uc003fdi.2_Missense_Mutation_p.S506C|SMC4_uc003fdj.2_Missense_Mutation_p.S531C|SMC4_uc010hwd.2_Missense_Mutation_p.S531C|SMC4_uc003fdl.2_Missense_Mutation_p.S234C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	531	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.207547	29.011349	33.198997	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160135665	160135665	15283	3	C	G	G	G	416	32	SMC4	3	3
SLITRK3	22865	broad.mit.edu	37	3	164907274	164907274	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164907274C>T	uc003fej.3	-	c.1345G>A	c.(1345-1347)GAT>AAT	p.D449N	SLITRK3_uc003fek.2_Missense_Mutation_p.D449N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	449	LRR 8.|Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.272727	43.000152	45.561046	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164907274	164907274	15242	3	C	T	T	T	416	32	SLITRK3	2	2
HNRNPH1	3187	broad.mit.edu	37	5	179045155	179045155	+	Missense_Mutation	SNP	A	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179045155A>T	uc003mkf.3	-	c.706T>A	c.(706-708)TAT>AAT	p.Y236N	HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Missense_Mutation_p.Y144N|HNRNPH1_uc003mke.3_Missense_Mutation_p.Y236N|HNRNPH1_uc003mkh.3_Missense_Mutation_p.Y236N	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	236	2 X 16 AA Gly-rich approximate repeats.|1-1.				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0										310				0.165644	46.413237	63.788042	27	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179045155	179045155	7558	5	A	T	T	T	169	13	HNRNPH1	3	3
FBXO24	26261	broad.mit.edu	37	7	100190473	100190473	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100190473C>T	uc011kjz.1	+	c.740C>T	c.(739-741)CCG>CTG	p.P247L	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.P195L|FBXO24_uc003uvm.1_Missense_Mutation_p.P209L|FBXO24_uc003uvn.1_5'UTR|FBXO24_uc011kka.1_Missense_Mutation_p.P197L	NM_012172	NP_036304	O75426	FBX24_HUMAN	F-box only protein 24 isoform 3	209						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.146341	10.325612	15.252366	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100190473	100190473	5972	7	C	T	T	T	299	23	FBXO24	1	1
TNRC18	84629	broad.mit.edu	37	7	5427961	5427961	+	Silent	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5427961G>A	uc003soi.3	-	c.1494C>T	c.(1492-1494)CCC>CCT	p.P498P	TNRC18_uc010ksx.1_Silent_p.P424P	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	498	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.333333	8.020252	8.242533	3	6	KEEP	---	---	---	---	capture		Silent	SNP	5427961	5427961	16880	7	G	A	A	A	496	39	TNRC18	1	1
PON3	5446	broad.mit.edu	37	7	94993257	94993257	+	Missense_Mutation	SNP	G	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94993257G>A	uc003unt.2	-	c.613C>T	c.(613-615)CTT>TTT	p.L205F	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.L253F	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	205					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	p.L205V(1)		ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)											0.066667	-6.868256	25.214812	11	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94993257	94993257	12679	7	G	A	A	A	429	33	PON3	2	2
DYNC1I1	1780	broad.mit.edu	37	7	95665044	95665044	+	Silent	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95665044C>T	uc003uoc.3	+	c.1395C>T	c.(1393-1395)TAC>TAT	p.Y465Y	DYNC1I1_uc003uod.3_Silent_p.Y448Y|DYNC1I1_uc003uob.2_Silent_p.Y428Y|DYNC1I1_uc003uoe.3_Silent_p.Y445Y|DYNC1I1_uc010lfl.2_Silent_p.Y454Y	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	465	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)											0.320513	125.274035	129.751535	50	106	KEEP	---	---	---	---	capture		Silent	SNP	95665044	95665044	5028	7	C	T	T	T	220	17	DYNC1I1	2	2
CSMD3	114788	broad.mit.edu	37	8	113563024	113563024	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113563024C>T	uc003ynu.2	-	c.4440G>A	c.(4438-4440)ATG>ATA	p.M1480I	CSMD3_uc003yns.2_Missense_Mutation_p.M752I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1440I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1376I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1480	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.092105	2.464199	15.200213	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113563024	113563024	4087	8	C	T	T	T	325	25	CSMD3	2	2
CDH17	1015	broad.mit.edu	37	8	95182742	95182742	+	Missense_Mutation	SNP	C	T	T			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95182742C>T	uc003ygh.2	-	c.949G>A	c.(949-951)GGA>AGA	p.G317R	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.G317R	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	317	Extracellular (Potential).|Cadherin 3.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.059701	-8.272852	18.864324	8	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95182742	95182742	3231	8	C	T	T	T	299	23	CDH17	1	1
KDM4C	23081	broad.mit.edu	37	9	6986546	6986546	+	Missense_Mutation	SNP	G	C	C			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6986546G>C	uc003zkh.2	+	c.1557G>C	c.(1555-1557)GAG>GAC	p.E519D	KDM4C_uc010mhu.2_Missense_Mutation_p.E541D|KDM4C_uc011lmi.1_Missense_Mutation_p.E519D|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.2_Missense_Mutation_p.E519D|KDM4C_uc011lmk.1_Missense_Mutation_p.E338D|KDM4C_uc011lml.1_Missense_Mutation_p.E206D	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	519					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.211538	27.961306	32.011288	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6986546	6986546	8436	9	G	C	C	C	425	33	KDM4C	3	3
ZNF484	83744	broad.mit.edu	37	9	95609798	95609798	+	Missense_Mutation	SNP	T	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95609798T>A	uc011lub.1	-	c.1277A>T	c.(1276-1278)AAG>ATG	p.K426M	ANKRD19_uc004asr.3_Intron|ZNF484_uc004asu.1_Missense_Mutation_p.K424M|ZNF484_uc010mrb.1_Missense_Mutation_p.K388M|ZNF484_uc004asv.1_Missense_Mutation_p.K388M	NM_001007101	NP_001007102	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform b	424	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.347826	69.913855	71.3082	24	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95609798	95609798	18531	9	T	A	A	A	728	56	ZNF484	3	3
DMD	1756	broad.mit.edu	37	X	32382729	32382729	+	Missense_Mutation	SNP	C	G	G			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32382729C>G	uc004dda.1	-	c.5124G>C	c.(5122-5124)AAG>AAC	p.K1708N	DMD_uc004dcw.2_Missense_Mutation_p.K364N|DMD_uc004dcx.2_Missense_Mutation_p.K367N|DMD_uc004dcz.2_Missense_Mutation_p.K1585N|DMD_uc004dcy.1_Missense_Mutation_p.K1704N|DMD_uc004ddb.1_Missense_Mutation_p.K1700N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1708	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.137097	33.172393	48.907617	17	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32382729	32382729	4760	23	C	G	G	G	415	32	DMD	3	3
RB1	5925	broad.mit.edu	37	13	48939032	48939033	+	Frame_Shift_Ins	INS	-	A	A			TCGA-75-5147-01	TCGA-75-5147-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:48939032_48939033insA	uc001vcb.2	+	c.864_865insA	c.(862-867)GTGAAAfs	p.V288fs	RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	288_289					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding			lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.50			4	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	48939032	48939033	13559	13	-	A	A	A	574	45	RB1	5	5
