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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
TACC2	10579	broad.mit.edu	36	10	123800022	123800022	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123800022C>T	uc001lfv.1	+	c.113C>T	c.(112-114)ACG>ATG	p.T38M	TACC2_uc001lfw.1_Missense_Mutation_p.T38M|TACC2_uc009xzx.1_Missense_Mutation_p.T38M	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	38						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.9	111.227285	117.612373	36	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123800022	123800022	16023	10	C	T	T	19	19	TACC2	T	1	1
JAKMIP3	282973	broad.mit.edu	36	10	133817439	133817439	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:133817439C>T	uc009yaz.1	+	c.2169C>T	c.(2167-2169)GAC>GAT	p.D723D	JAKMIP3_uc001lkx.2_Non-coding_Transcript|JAKMIP3_uc009yba.1_Silent_p.D160D	NM_001105521	NP_001098991			janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)												0.810127	194.83453	201.94376	64	15	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	Silent	SNP	133817439	133817439	8246	10	C	T	T	19	19	JAKMIP3	T	1	1
MUC2	4583	broad.mit.edu	36	11	1083364	1083364	+	Missense_Mutation	SNP	C	G	G			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1083364C>G	uc001lsx.1	+	c.12269C>G	c.(12268-12270)ACT>AGT	p.T4090S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4090						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)			Pranlukast(DB01411)									0.142857	9.251312	13.552834	5	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1083364	1083364	10369	11	C	G	G	20	20	MUC2	G	3	3
PANX3	116337	broad.mit.edu	36	11	123994749	123994749	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123994749G>A	uc001qah.1	+	c.887G>A	c.(886-888)CGG>CAG	p.R296Q		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	296	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.41784	256.948168	258.199634	89	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	Missense_Mutation	SNP	123994749	123994749	11839	11	G	A	A	39	39	PANX3	A	1	1
SPI1	6688	broad.mit.edu	36	11	47337088	47337088	+	Missense_Mutation	SNP	G	T	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47337088G>T	uc001nfb.1	-	c.379C>A	c.(379-381)CCA>ACA	p.P127T	SPI1_uc001nfc.1_Missense_Mutation_p.P126T|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.P120T	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	126					negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2														0.5	16.247772	16.247772	6	6	GG		KEEP	---	---	---	---	capture		Lung(87;0.0967)	Missense_Mutation	SNP	47337088	47337088	15561	11	G	T	T	43	43	SPI1	T	3	3
PRKCDBP	112464	broad.mit.edu	36	11	6297954	6297954	+	Missense_Mutation	SNP	T	C	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6297954T>C	uc001mcu.1	-	c.329A>G	c.(328-330)GAG>GGG	p.E110G		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	110											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)												0.692308	11.307881	11.619822	9	4	TT		KEEP	---	---	---	---	capture		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	6297954	6297954	12953	11	T	C	C	54	54	PRKCDBP	C	4	4
NAALAD2	10003	broad.mit.edu	36	11	89508485	89508485	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:89508485C>T	uc001pdf.2	+	c.193C>T	c.(193-195)CGT>TGT	p.R65C	NAALAD2_uc001pdd.2_Missense_Mutation_p.R65C|NAALAD2_uc001pde.2_Missense_Mutation_p.R65C|NAALAD2_uc009yvx.1_Missense_Mutation_p.R65C|NAALAD2_uc009yvy.1_Missense_Mutation_p.R65C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.528571	106.073925	106.123532	37	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89508485	89508485	10523	11	C	T	T	31	31	NAALAD2	T	1	1
FAT3	120114	broad.mit.edu	36	11	92210584	92210584	+	Silent	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92210584G>A	uc001pdj.2	+	c.10332G>A	c.(10330-10332)CCG>CCA	p.P3444P	FAT3_uc001pdi.2_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3444	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.398058	116.652746	117.589211	41	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	92210584	92210584	5927	11	G	A	A	39	39	FAT3	A	1	1
MTERFD3	80298	broad.mit.edu	36	12	105895985	105895985	+	Missense_Mutation	SNP	A	G	G			TCGA-02-0003-01	TCGA-02-0003-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105895985A>G	uc001tme.1	-	c.638T>C	c.(637-639)TTA>TCA	p.L213S	MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc009zus.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	promoter binding|transcription regulator activity				0														0.406504	151.529538	152.467761	50	73	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105895985	105895985	10314	12	A	G	G	13	13	MTERFD3	G	4	4
BTBD11	121551	broad.mit.edu	36	12	106536141	106536141	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106536141G>A	uc001tmk.1	+	c.2308G>A	c.(2308-2310)GAG>AAG	p.E770K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	770						integral to membrane	DNA binding			ovary(1)	1														0.357895	87.016465	88.708733	34	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106536141	106536141	1571	12	G	A	A	37	37	BTBD11	A	1	1
SLC2A14	144195	broad.mit.edu	36	12	7871536	7871536	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7871536C>T	uc001qtk.1	-	c.755G>A	c.(754-756)CGG>CAG	p.R252Q	SLC2A14_uc001qtl.1_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.1_Missense_Mutation_p.R229Q|SLC2A14_uc001qtn.1_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.1_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	252	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1														0.47619	85.54409	85.575167	30	33	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0883)	Missense_Mutation	SNP	7871536	7871536	15040	12	C	T	T	23	23	SLC2A14	T	1	1
SLC2A3	6515	broad.mit.edu	36	12	7973725	7973725	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7973725C>T	uc001qtr.1	-	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	SLC2A3_uc001qts.1_3'UTR	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	228	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4						Colon(96;424 1461 14416 20933 23688)								0.109524	17.87556	49.581732	23	187	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0866)	Missense_Mutation	SNP	7973725	7973725	15042	12	C	T	T	23	23	SLC2A3	T	1	1
MYH6	4624	broad.mit.edu	36	14	22928549	22928549	+	Silent	SNP	G	T	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22928549G>T	uc001wjv.2	-	c.3871C>A	c.(3871-3873)CGG>AGG	p.R1291R	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1291	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)													0.44898	257.681078	258.12352	88	108	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	Silent	SNP	22928549	22928549	10433	14	G	T	T	39	39	MYH6	T	3	3
AKAP6	9472	broad.mit.edu	36	14	32360750	32360750	+	Missense_Mutation	SNP	A	G	G			TCGA-02-0003-01	TCGA-02-0003-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:32360750A>G	uc001wrq.1	+	c.3980A>G	c.(3979-3981)GAC>GGC	p.D1327G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1327					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)					Melanoma(49;821 1200 7288 13647 42351)				483				0.396694	151.574629	152.70416	48	73	AA		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	Missense_Mutation	SNP	32360750	32360750	458	14	A	G	G	10	10	AKAP6	G	4	4
EML1	2009	broad.mit.edu	36	14	99433359	99433359	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99433359G>A	uc001ygr.1	+	c.859G>A	c.(859-861)GCT>ACT	p.A287T	EML1_uc010avt.1_Missense_Mutation_p.A255T|EML1_uc001ygq.1_Missense_Mutation_p.A287T|EML1_uc001ygs.1_Missense_Mutation_p.A268T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	268						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.521739	126.038082	126.080172	48	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99433359	99433359	5288	14	G	A	A	38	38	EML1	A	1	1
WDR72	256764	broad.mit.edu	36	15	51785492	51785492	+	Silent	SNP	A	T	T			TCGA-02-0003-01	TCGA-02-0003-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:51785492A>T	uc002acj.2	-	c.1026T>A	c.(1024-1026)TCT>TCA	p.S342S	WDR72_uc010bfi.1_Silent_p.S342S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	342	WD 4.									lung(1)	1														0.866667	170.937678	178.766586	52	8	AA		KEEP	---	---	---	---	capture		all cancers(107;0.0511)	Silent	SNP	51785492	51785492	17895	15	A	T	T	7	7	WDR72	T	4	4
GNPTG	84572	broad.mit.edu	36	16	1352530	1352530	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1352530C>T	uc002clm.1	+	c.603C>T	c.(601-603)ACC>ACT	p.T201T		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	201						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)												0.515152	156.064468	156.086621	51	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	1352530	1352530	6815	16	C	T	T	22	22	GNPTG	T	2	2
MAPK8IP3	23162	broad.mit.edu	36	16	1755962	1755962	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1755962C>T	uc002cmk.1	+	c.2444C>T	c.(2443-2445)GCG>GTG	p.A815V	MAPK8IP3_uc002cml.1_Missense_Mutation_p.A809V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	815					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			central_nervous_system(1)	1														0.407407	27.695211	27.903162	11	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1755962	1755962	9669	16	C	T	T	27	27	MAPK8IP3	T	1	1
SPATA22	84690	broad.mit.edu	36	17	3312778	3312778	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3312778G>A	uc002fvm.1	-	c.206C>T	c.(205-207)GCT>GTT	p.A69V	SPATA22_uc002fvn.1_Missense_Mutation_p.A69V|SPATA22_uc002fvo.1_Missense_Mutation_p.A69V|SPATA22_uc002fvp.1_Missense_Mutation_p.A69V|SPATA22_uc010ckf.1_Missense_Mutation_p.A26V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	69											0														0.361111	173.111354	176.173278	65	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3312778	3312778	15516	17	G	A	A	34	34	SPATA22	A	2	2
HOXB1	3211	broad.mit.edu	36	17	43962714	43962714	+	Missense_Mutation	SNP	C	A	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43962714C>A	uc002ink.1	-	c.552G>T	c.(550-552)AAG>AAT	p.K184N		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	184	Antp-type hexapeptide.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.45122	99.755874	99.926757	37	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43962714	43962714	7591	17	C	A	A	24	24	HOXB1	A	3	3
TP53	7157	broad.mit.edu	36	17	7517819	7517819	+	Missense_Mutation	SNP	G	A	A	rs28934574	unknown	TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517819G>A	uc002gim.2	-	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(358)|p.R282G(25)|p.0?(6)|p.R282R(3)|p.R282fs*24(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.?(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)				Pancreas(47;798 1329 9957 10801)		111	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.433962	140.034219	140.437215	46	60	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7517819	7517819	16923	17	G	A	A	39	39	TP53	A	1	1
TP53	7157	broad.mit.edu	36	17	7519121	7519121	+	Missense_Mutation	SNP	G	T	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519121G>T	uc002gim.2	-	c.534C>A	c.(532-534)CAC>CAA	p.H178Q	TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.1_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	178	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> L (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> D (in sporadic cancers; somatic mutation).|H -> R (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.H179Y(8)|p.P177_C182delPHHERC(7)|p.0?(6)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H178H(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.H178_H179>QY(1)|p.E171_H179delEVVRRCPHH(1)|p.H178del(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.H178fs*3(1)|p.R174fs*3(1)|p.E171fs*61(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)				Pancreas(47;798 1329 9957 10801)		111	p.R174fs(THP1-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.371901	123.743517	125.487687	45	76	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519121	7519121	16923	17	G	T	T	44	44	TP53	T	3	3
TMEM200C	645369	broad.mit.edu	36	18	5880525	5880525	+	Missense_Mutation	SNP	T	C	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5880525T>C	uc002kmx.1	-	c.1538A>G	c.(1537-1539)GAG>GGG	p.E513G		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	hypothetical protein LOC645369	513	Pro-rich.					integral to membrane					0														0.263158	6.437377	7.431649	5	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5880525	5880525	16660	18	T	C	C	54	54	TMEM200C	C	4	4
ICAM5	7087	broad.mit.edu	36	19	10263375	10263375	+	Missense_Mutation	SNP	G	C	C			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10263375G>C	uc002mnu.2	+	c.563G>C	c.(562-564)CGG>CCG	p.R188P	ICAM5_uc002mnv.2_Missense_Mutation_p.R63P	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	188	Extracellular (Potential).|Ig-like C2-type 2.		R -> W (in a breast cancer sample; somatic mutation).		cell-cell adhesion	integral to plasma membrane				breast(3)	3														0.214286	8.766409	10.973216	6	22	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		Missense_Mutation	SNP	10263375	10263375	7783	19	G	C	C	39	39	ICAM5	C	3	3
ILF3	3609	broad.mit.edu	36	19	10650305	10650305	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10650305C>T	uc002mpo.1	+	c.576C>T	c.(574-576)AAC>AAT	p.N192N	ILF3_uc002mpk.1_Silent_p.N192N|ILF3_uc002mpl.1_Silent_p.N192N|ILF3_uc002mpm.1_Silent_p.N192N|ILF3_uc002mpn.1_Silent_p.N192N|ILF3_uc002mpp.2_Silent_p.N13N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding|transcription activator activity|transcription repressor activity			ovary(3)	3														0.402062	208.999884	210.629608	78	116	CC		KEEP	---	---	---	---	capture	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		Silent	SNP	10650305	10650305	8013	19	C	T	T	19	19	ILF3	T	1	1
PODNL1	79883	broad.mit.edu	36	19	13907616	13907616	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13907616G>A	uc002mxr.1	-	c.433C>T	c.(433-435)CGG>TGG	p.R145W	PODNL1_uc002mxs.1_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1	145	LRR 3.|Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)	1														0.365854	41.54884	42.183244	15	26	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		Missense_Mutation	SNP	13907616	13907616	12607	19	G	A	A	39	39	PODNL1	A	1	1
LPHN1	22859	broad.mit.edu	36	19	14133186	14133186	+	Missense_Mutation	SNP	A	C	C			TCGA-02-0003-01	TCGA-02-0003-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14133186A>C	uc002myg.1	-	c.1463T>G	c.(1462-1464)GTC>GGC	p.V488G	LPHN1_uc002myh.1_Missense_Mutation_p.V483G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.235294	7.990909	9.081347	4	13	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14133186	14133186	9288	19	A	C	C	10	10	LPHN1	C	4	4
BRD4	23476	broad.mit.edu	36	19	15237255	15237255	+	Silent	SNP	C	G	G			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15237255C>G	uc002nar.1	-	c.759G>C	c.(757-759)GTG>GTC	p.V253V	BRD4_uc002nas.1_Silent_p.V253V|BRD4_uc002nat.2_Silent_p.V253V|BRD4_uc002nau.2_Silent_p.V253V	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	253					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.310345	13.072401	14.060579	9	20	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Silent	SNP	15237255	15237255	1535	19	C	G	G	25	25	BRD4	G	3	3
TLE2	7089	broad.mit.edu	36	19	2953461	2953461	+	Missense_Mutation	SNP	G	C	C			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2953461G>C	uc010dth.1	-	c.1940C>G	c.(1939-1941)GCG>GGG	p.A647G	TLE2_uc002lww.1_Missense_Mutation_p.A646G|TLE2_uc010dti.1_Missense_Mutation_p.A660G	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	646					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0														0.26087	6.338658	7.539932	6	17	GG		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	2953461	2953461	16469	19	G	C	C	38	38	TLE2	C	3	3
DUS3L	56931	broad.mit.edu	36	19	5740592	5740592	+	Missense_Mutation	SNP	T	G	G			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5740592T>G	uc002mdc.1	-	c.526A>C	c.(526-528)ACC>CCC	p.T176P	DUS3L_uc002mdd.1_Intron|DUS3L_uc010duk.1_5'UTR	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like	176	C3H1-type 2.				oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0														0.3	7.721773	8.078791	3	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5740592	5740592	4992	19	T	G	G	58	58	DUS3L	G	4	4
NLRP5	126206	broad.mit.edu	36	19	61230267	61230267	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61230267G>A	uc002qmj.1	+	c.856G>A	c.(856-858)GGA>AGA	p.G286R	NLRP5_uc002qmi.1_Missense_Mutation_p.G267R	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	286	NACHT.|ATP (Potential).					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.714286	29.654638	30.232696	10	4	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Missense_Mutation	SNP	61230267	61230267	10883	19	G	A	A	39	39	NLRP5	A	1	1
ZNF583	147949	broad.mit.edu	36	19	61626211	61626211	+	Missense_Mutation	SNP	T	G	G			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61626211T>G	uc002qnc.1	+	c.372T>G	c.(370-372)AGT>AGG	p.S124R		NM_152478	NP_689691	Q96ND8	ZN583_HUMAN	zinc finger protein 583	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)												0.510638	246.906475	246.920582	72	69	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0564)	Missense_Mutation	SNP	61626211	61626211	18610	19	T	G	G	59	59	ZNF583	G	4	4
TPM3	7170	broad.mit.edu	36	1	152415276	152415276	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152415276G>A	uc001fec.1	-	c.316C>T	c.(316-318)CGC>TGC	p.R106C	TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc009wor.1_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	105	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)	33	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)									241				0.469925	331.679422	331.883238	125	141	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152415276	152415276	16951	1	G	A	A	38	38	TPM3	A	1	1
NR1I3	9970	broad.mit.edu	36	1	159472905	159472905	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159472905C>T	uc001fzp.1	-	c.75G>A	c.(73-75)GCG>GCA	p.A25A	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001gac.1_Intron|NR1I3_uc001fzg.1_Intron|NR1I3_uc001fzj.1_Intron|NR1I3_uc001fzi.1_Intron|NR1I3_uc001fzl.1_Intron|NR1I3_uc001fzk.1_Intron|NR1I3_uc001fzm.1_Intron|NR1I3_uc001fzn.1_5'UTR|NR1I3_uc009wug.1_Intron|NR1I3_uc001fzf.1_Silent_p.A25A|NR1I3_uc001fzo.1_Intron|NR1I3_uc001fzt.1_Intron|NR1I3_uc001fzs.1_Intron|NR1I3_uc001fzr.1_Silent_p.A25A|NR1I3_uc001fzq.1_Silent_p.A25A|NR1I3_uc001fzv.1_Intron|NR1I3_uc001fzu.1_Intron|NR1I3_uc001fzx.1_Silent_p.A25A|NR1I3_uc001fzy.1_Silent_p.A25A|NR1I3_uc001fzw.1_Silent_p.A25A|NR1I3_uc001fzz.1_Silent_p.A25A|NR1I3_uc001gab.1_Silent_p.A25A|NR1I3_uc001fzh.1_Intron|NR1I3_uc001gaa.1_Silent_p.A25A	NM_001077482	NP_001070950	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 1	25	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)													0.292683	112.272339	118.563448	48	116	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Silent	SNP	159472905	159472905	11026	1	C	T	T	27	27	NR1I3	T	1	1
TSHZ2	128553	broad.mit.edu	36	20	51305667	51305667	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51305667C>T	uc002xwo.2	+	c.2263C>T	c.(2263-2265)CGC>TGC	p.R755C		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4														0.402235	187.272534	188.764317	72	107	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(23;0.1)		Missense_Mutation	SNP	51305667	51305667	17175	20	C	T	T	27	27	TSHZ2	T	1	1
FAM83F	113828	broad.mit.edu	36	22	38747516	38747516	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38747516C>T	uc003ayk.1	+	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	352										breast(1)	1														0.552083	138.044686	138.291068	53	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	38747516	38747516	5864	22	C	T	T	27	27	FAM83F	T	1	1
PKDREJ	10343	broad.mit.edu	36	22	45035446	45035446	+	Missense_Mutation	SNP	C	A	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45035446C>A	uc003bhh.1	-	c.2438G>T	c.(2437-2439)AGT>ATT	p.S813I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	813	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)												0.308725	122.18421	127.048469	46	103	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	Missense_Mutation	SNP	45035446	45035446	12395	22	C	A	A	20	20	PKDREJ	A	3	3
PLCL1	5334	broad.mit.edu	36	2	198659001	198659001	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198659001G>A	uc010fsp.1	+	c.2515G>A	c.(2515-2517)GTA>ATA	p.V839I	PLCL1_uc002uuv.2_Missense_Mutation_p.V760I|PLCL1_uc002uuw.2_Missense_Mutation_p.V741I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	phospholipase C-like 1 isoform a	839					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.503497	202.992154	202.993681	72	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	198659001	198659001	12465	2	G	A	A	40	40	PLCL1	A	1	1
SLC11A1	6556	broad.mit.edu	36	2	218964231	218964231	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218964231G>A	uc002vhv.1	+	c.1021G>A	c.(1021-1023)GTG>ATG	p.V341M	SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.1_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.1_Missense_Mutation_p.V136M	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	341	Extracellular (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)												0.44697	162.902657	163.22636	59	73	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	218964231	218964231	14875	2	G	A	A	40	40	SLC11A1	A	1	1
OBSL1	23363	broad.mit.edu	36	2	220131164	220131164	+	Missense_Mutation	SNP	T	C	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220131164T>C	uc010fwk.1	-	c.3488A>G	c.(3487-3489)AAT>AGT	p.N1163S	OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010fwl.1_Missense_Mutation_p.N638S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1163	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)												0.309524	36.149805	37.513536	13	29	TT		KEEP	---	---	---	---	capture		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	Missense_Mutation	SNP	220131164	220131164	11218	2	T	C	C	52	52	OBSL1	C	4	4
C2orf63	130162	broad.mit.edu	36	2	55293419	55293419	+	Silent	SNP	C	A	A			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:55293419C>A	uc002ryi.1	-	c.393G>T	c.(391-393)TCG>TCT	p.S131S	C2orf63_uc002ryh.1_Intron|C2orf63_uc002ryj.1_Silent_p.S9S	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	131							binding			ovary(2)|central_nervous_system(1)	3														0.480769	157.647839	157.681045	50	54	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		Silent	SNP	55293419	55293419	2270	2	C	A	A	31	31	C2orf63	A	3	3
DZIP1L	199221	broad.mit.edu	36	3	139279123	139279123	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139279123C>T	uc003erq.1	-	c.1330G>A	c.(1330-1332)GCT>ACT	p.A444T	DZIP1L_uc003err.1_Missense_Mutation_p.A444T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	444						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2														0.481328	349.372571	349.44634	116	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139279123	139279123	5050	3	C	T	T	28	28	DZIP1L	T	2	2
ESYT3	83850	broad.mit.edu	36	3	139666931	139666931	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139666931G>A	uc003esk.1	+	c.1147G>A	c.(1147-1149)GAC>AAC	p.D383N	ESYT3_uc010hug.1_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	383	C2 1.					integral to membrane|plasma membrane					0														0.352941	15.644418	15.968814	6	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139666931	139666931	5459	3	G	A	A	37	37	ESYT3	A	1	1
CLEC3B	7123	broad.mit.edu	36	3	45052087	45052087	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45052087C>T	uc003cok.2	+	c.276C>T	c.(274-276)CAC>CAT	p.H92H	CLEC3B_uc003col.1_Silent_p.H50H	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	92	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GBM(139;1487 3263 30871)								0.446809	112.826885	113.059734	42	52	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Silent	SNP	45052087	45052087	3649	3	C	T	T	19	19	CLEC3B	T	1	1
NPRL2	10641	broad.mit.edu	36	3	50362207	50362207	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50362207G>A	uc003daj.1	-	c.232C>T	c.(232-234)CGC>TGC	p.R78C	NPRL2_uc003dai.1_5'UTR|CYB561D2_uc003dak.1_5'Flank|CYB561D2_uc003dal.1_5'Flank|CYB561D2_uc003dam.1_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	78	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1									(HEC59-Tumor)|(KELLY-Tumor)	248				0.267956	237.683751	255.242163	97	265	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50362207	50362207	11002	3	G	A	A	39	39	NPRL2	A	1	1
ANAPC4	29945	broad.mit.edu	36	4	25005569	25005569	+	Missense_Mutation	SNP	G	T	T			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:25005569G>T	uc003gro.1	+	c.1005G>T	c.(1003-1005)CAG>CAT	p.Q335H	ANAPC4_uc003grp.1_Missense_Mutation_p.Q220H|ANAPC4_uc010iet.1_Missense_Mutation_p.Q115H|ANAPC4_uc010ieu.1_Intron	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)	4		Breast(46;0.0503)												0.367347	150.303607	152.580753	54	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25005569	25005569	607	4	G	T	T	36	36	ANAPC4	T	3	3
DNAH5	1767	broad.mit.edu	36	5	13780709	13780709	+	Silent	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13780709C>T	uc003jfd.2	-	c.11940G>A	c.(11938-11940)GAG>GAA	p.E3980E	DNAH5_uc003jfc.2_Silent_p.E148E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.395604	112.380228	113.248515	36	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	13780709	13780709	4787	5	C	T	T	24	24	DNAH5	T	2	2
HRH2	3274	broad.mit.edu	36	5	175042957	175042957	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175042957G>A	uc003mdc.2	+	c.115G>A	c.(115-117)GTC>ATC	p.V39I	HRH2_uc003mdd.1_Missense_Mutation_p.V39I|HRH2_uc010jjx.1_Missense_Mutation_p.V39I	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	39	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.422705	451.336948	453.491123	175	239	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Missense_Mutation	SNP	175042957	175042957	7648	5	G	A	A	40	40	HRH2	A	1	1
PIK3R1	5295	broad.mit.edu	36	5	67624894	67624894	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:67624894G>A	uc003jva.1	+	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	PIK3R1_uc003jvb.1_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.1_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.1_Missense_Mutation_p.G106R|PIK3R1_uc003jve.1_Missense_Mutation_p.G55R	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(3)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)			Isoproterenol(DB01064)					370	TCGA GBM(4;<1E-8)			0.285714	63.071052	66.528981	24	60	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Missense_Mutation	SNP	67624894	67624894	12342	5	G	A	A	43	43	PIK3R1	A	2	2
MTX3	345778	broad.mit.edu	36	5	79320105	79320105	+	Missense_Mutation	SNP	A	T	T			TCGA-02-0003-01	TCGA-02-0003-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79320105A>T	uc010jag.1	-	c.440T>A	c.(439-441)CTG>CAG	p.L147Q	MTX3_uc010jah.1_Missense_Mutation_p.L147Q|MTX3_uc003kge.2_Missense_Mutation_p.L86Q|MTX3_uc003kgf.1_5'Flank	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	147					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)												0.471698	70.567427	70.604545	25	28	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	Missense_Mutation	SNP	79320105	79320105	10362	5	A	T	T	7	7	MTX3	T	4	4
SHPRH	257218	broad.mit.edu	36	6	146311138	146311138	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146311138C>T	uc003qld.1	-	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K	SHPRH_uc010kht.1_Missense_Mutation_p.E175K|SHPRH_uc003qle.1_Missense_Mutation_p.E342K|SHPRH_uc003qlf.1_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K|SHPRH_uc003qlk.1_Missense_Mutation_p.E342K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	342	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)												0.762712	133.045367	136.760781	45	14	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	Missense_Mutation	SNP	146311138	146311138	14786	6	C	T	T	29	29	SHPRH	T	2	2
KIAA0319	9856	broad.mit.edu	36	6	24664843	24664843	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24664843C>T	uc003neh.1	-	c.2828G>A	c.(2827-2829)CGT>CAT	p.R943H	KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319	943	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.32967	74.618179	76.958875	30	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24664843	24664843	8475	6	C	T	T	19	19	KIAA0319	T	1	1
HLA-F	3134	broad.mit.edu	36	6	29799928	29799928	+	Splice_Site_SNP	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29799928G>A	uc003nno.2	+	c.335_splice	c.e3-1	p.G112_splice	HLA-F_uc010jrl.1_Splice_Site_SNP_p.G112_splice|HLA-F_uc003nnm.2_Splice_Site_SNP_p.G112_splice	NM_001098479	NP_001091949			major histocompatibility complex, class I, F						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0														0.2	10.333852	14.149026	9	36	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	29799928	29799928	7502	6	G	A	A	35	35	HLA-F	A	5	2
SLC39A7	7922	broad.mit.edu	36	6	33278090	33278090	+	Missense_Mutation	SNP	T	C	C			TCGA-02-0003-01	TCGA-02-0003-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33278090T>C	uc003odf.1	+	c.707T>C	c.(706-708)TTT>TCT	p.F236S	RXRB_uc003odb.1_5'Flank|RXRB_uc003odc.1_5'Flank|RXRB_uc003odd.1_5'Flank|SLC39A7_uc003odg.1_Missense_Mutation_p.F236S|SLC39A7_uc003odh.1_5'UTR|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	236						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1														0.467249	366.322124	366.534212	107	122	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33278090	33278090	15120	6	T	C	C	64	64	SLC39A7	C	4	4
EPHA7	2045	broad.mit.edu	36	6	94177566	94177566	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:94177566C>T	uc003poe.1	-	c.206G>A	c.(205-207)CGA>CAA	p.R69Q	EPHA7_uc003pof.1_Missense_Mutation_p.R69Q|EPHA7_uc003pog.2_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7	69	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(1)		ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)								635				0.443243	230.116589	230.636288	82	103	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0847)	Missense_Mutation	SNP	94177566	94177566	5365	6	C	T	T	31	31	EPHA7	T	1	1
MUC17	140453	broad.mit.edu	36	7	100463759	100463759	+	Missense_Mutation	SNP	C	T	T			TCGA-02-0003-01	TCGA-02-0003-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100463759C>T	uc003uxp.1	+	c.2342C>T	c.(2341-2343)TCT>TTT	p.S781F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	781	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|11.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.276094	627.437533	667.671341	246	645	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100463759	100463759	10368	7	C	T	T	32	32	MUC17	T	2	2
ELMO1	9844	broad.mit.edu	36	7	37217620	37217620	+	Missense_Mutation	SNP	G	C	C			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37217620G>C	uc003tfk.1	-	c.982C>G	c.(982-984)CGA>GGA	p.R328G	ELMO1_uc010kxg.1_Missense_Mutation_p.R328G	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	328	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)	3														0.386792	137.654743	138.843962	41	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37217620	37217620	5257	7	G	C	C	37	37	ELMO1	C	3	3
EGFR	1956	broad.mit.edu	36	7	55200603	55200603	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200603G>A	uc003tqk.1	+	c.1859G>A	c.(1858-1860)TGC>TAC	p.C620Y	EGFR_uc003tqi.1_Missense_Mutation_p.C620Y|EGFR_uc003tqj.1_Missense_Mutation_p.C620Y|EGFR_uc010kzg.1_Missense_Mutation_p.C575Y|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	620	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620Y(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.464839	973.279472	974.180085	390	449	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200603	55200603	5156	7	G	A	A	46	46	EGFR	A	2	2
AUTS2	26053	broad.mit.edu	36	7	69893646	69893646	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:69893646G>A	uc003tvw.2	+	c.3508G>A	c.(3508-3510)GTG>ATG	p.V1170M	AUTS2_uc003tvx.2_Missense_Mutation_p.V1146M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1170	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)												0.294118	70.323042	74.127887	30	72	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	Missense_Mutation	SNP	69893646	69893646	1246	7	G	A	A	40	40	AUTS2	A	1	1
POTEA	340441	broad.mit.edu	36	8	43266965	43266965	+	Missense_Mutation	SNP	G	A	A			TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:43266965G>A	uc003xpz.1	+	c.181G>A	c.(181-183)GTC>ATC	p.V61I	POTEA_uc003xqa.1_Missense_Mutation_p.V61I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	61										ovary(1)	1														0.433862	219.708451	220.430841	82	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43266965	43266965	12690	8	G	A	A	40	40	POTEA	A	1	1
KIF27	55582	broad.mit.edu	36	9	85672538	85672538	+	Missense_Mutation	SNP	G	A	A	rs3199677	unknown	TCGA-02-0003-01	TCGA-02-0003-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85672538G>A	uc004ana.1	-	c.2815C>T	c.(2815-2817)CGC>TGC	p.R939C	KIF27_uc010mpw.1_Missense_Mutation_p.R873C|KIF27_uc010mpx.1_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	939	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.321429	114.723273	118.689823	45	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85672538	85672538	8607	9	G	A	A	40	40	KIF27	A	1	1
HRCT1	646962	broad.mit.edu	36	9	35896599	35896601	+	In_Frame_Del	DEL	CCC	-	-			TCGA-02-0003-01	TCGA-02-0003-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35896599_35896601delCCC	uc003zyr.1	+	c.315_317delCCC	c.(313-318)CACCCC>CAC	p.P106del	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	106	His-rich.					integral to membrane					0														0.47			8	9				---	---	---	---	capture_indel			In_Frame_Del	DEL	35896599	35896601	7645	9	CCC	-	-	18	18	HRCT1	-	5	5
