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
ZMIZ1	57178	broad.mit.edu	36	10	80722063	80722063	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:80722063G>A	uc001kaf.1	+	c.901G>A	c.(901-903)GCC>ACC	p.A301T	ZMIZ1_uc001kag.1_Missense_Mutation_p.A177T|ZMIZ1_uc001kad.1_Missense_Mutation_p.A301T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A177T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	301	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)	3	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)													0.848485	261.545551	273.050529	84	15	GG		KEEP	---	---	---	---	capture	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		Missense_Mutation	SNP	80722063	80722063	18287	10	G	A	A	42	42	ZMIZ1	A	2	2
MMP13	4322	broad.mit.edu	36	11	102328076	102328076	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:102328076C>T	uc001phl.1	-	c.674G>A	c.(673-675)GGC>GAC	p.G225D		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	225					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)												0.409722	333.791098	335.811606	118	170	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Missense_Mutation	SNP	102328076	102328076	10042	11	C	T	T	26	26	MMP13	T	2	2
CALCA	796	broad.mit.edu	36	11	14948148	14948148	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14948148C>T	uc001mlv.1	-	c.136G>A	c.(136-138)GAA>AAA	p.E46K	CALCA_uc001mlt.1_Missense_Mutation_p.E46K|CALCA_uc001mlu.1_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	NM_001741	NP_001732	P06881	CALCA_HUMAN	calcitonin isoform CALCA preproprotein	46					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytoplasm|extracellular space	hormone activity			central_nervous_system(1)	1					Phentolamine(DB00692)							OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.554545	188.777604	189.06203	61	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14948148	14948148	2691	11	C	T	T	31	31	CALCA	T	1	1
ART1	417	broad.mit.edu	36	11	3637834	3637834	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3637834G>A	uc001lye.1	+	c.509G>A	c.(508-510)CGT>CAT	p.R170H	ART1_uc009yeb.1_Missense_Mutation_p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	170					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)			Becaplermin(DB00102)									0.392857	83.963084	84.802902	33	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Missense_Mutation	SNP	3637834	3637834	1015	11	G	A	A	40	40	ART1	A	1	1
SYT13	57586	broad.mit.edu	36	11	45230600	45230600	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45230600G>A	uc001myq.2	-	c.794C>T	c.(793-795)ACA>ATA	p.T265I	SYT13_uc009yku.1_Missense_Mutation_p.T121I	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	265	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1												OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.478088	344.265195	344.371061	120	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45230600	45230600	15990	11	G	A	A	48	48	SYT13	A	2	2
TCN1	6947	broad.mit.edu	36	11	59385642	59385642	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59385642C>T	uc001noj.2	-	c.490G>A	c.(490-492)GCC>ACC	p.A164T		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	164					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.438735	319.498747	320.323345	111	142	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59385642	59385642	16232	11	C	T	T	27	27	TCN1	T	1	1
MTA2	9219	broad.mit.edu	36	11	62120782	62120782	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62120782C>T	uc001ntq.1	-	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	262					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.44186	235.173775	235.680246	76	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62120782	62120782	10302	11	C	T	T	23	23	MTA2	T	1	1
SF1	7536	broad.mit.edu	36	11	64294304	64294304	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64294304T>C	uc001oaz.1	-	c.764A>G	c.(763-765)AAA>AGA	p.K255R	SF1_uc001oba.1_Missense_Mutation_p.K130R|SF1_uc001obb.1_Missense_Mutation_p.K130R|SF1_uc001obc.1_Missense_Mutation_p.K130R|SF1_uc001obd.1_Missense_Mutation_p.K130R|SF1_uc001obe.1_Missense_Mutation_p.K15R	NM_201998	NP_973727	Q15637	SF01_HUMAN	splicing factor 1 isoform 3	130					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3														0.464407	487.680256	488.011411	137	158	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64294304	64294304	14634	11	T	C	C	56	56	SF1	C	4	4
USP35	57558	broad.mit.edu	36	11	77599277	77599277	+	Missense_Mutation	SNP	A	C	C			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77599277A>C	uc009yva.1	+	c.2728A>C	c.(2728-2730)ACC>CCC	p.T910P	USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.2_Missense_Mutation_p.T478P|USP35_uc001ozd.2_Missense_Mutation_p.T521P|USP35_uc001ozf.2_Missense_Mutation_p.T641P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	910					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.490385	542.600206	542.623947	153	159	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		Missense_Mutation	SNP	77599277	77599277	17630	11	A	C	C	6	6	USP35	C	4	4
OR10A3	26496	broad.mit.edu	36	11	7917530	7917530	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7917530G>A	uc001mfu.1	-	c.114C>T	c.(112-114)ACC>ACT	p.T38T		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1														0.397661	210.068212	211.633995	68	103	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Silent	SNP	7917530	7917530	11297	11	G	A	A	43	43	OR10A3	A	2	2
IQSEC3	440073	broad.mit.edu	36	12	117835	117835	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:117835C>T	uc001qhw.1	+	c.136C>T	c.(136-138)CGG>TGG	p.R46W	IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|IQSEC3_uc001qht.1_Missense_Mutation_p.R131W	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	349					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)													0.542857	56.92258	56.978186	19	16	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	Missense_Mutation	SNP	117835	117835	8122	12	C	T	T	19	19	IQSEC3	T	1	1
CLEC4C	170482	broad.mit.edu	36	12	7790239	7790239	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7790239C>T	uc001qtg.1	-	c.79G>A	c.(79-81)GTA>ATA	p.V27I	CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	27	Helical; Signal-anchor for type II membrane protein; (Potential).				innate immune response	integral to membrane	sugar binding			ovary(1)	1														0.457627	159.10015	159.288027	54	64	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0915)	Missense_Mutation	SNP	7790239	7790239	3651	12	C	T	T	19	19	CLEC4C	T	1	1
POLE2	5427	broad.mit.edu	36	14	49190528	49190528	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49190528G>A	uc001wwu.1	-	c.1141C>T	c.(1141-1143)CTT>TTT	p.L381F	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.1_Missense_Mutation_p.L95F|POLE2_uc001wwv.1_Missense_Mutation_p.L96F|POLE2_uc010ano.1_Missense_Mutation_p.L96F	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA polymerase epsilon subunit 2	381					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)	1	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.47619	127.194155	127.235636	40	44	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49190528	49190528	12625	14	G	A	A	36	36	POLE2	A	2	2
IL16	3603	broad.mit.edu	36	15	79385512	79385512	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79385512C>G	uc002bgh.2	+	c.3629C>G	c.(3628-3630)ACT>AGT	p.T1210S	IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.2_Non-coding_Transcript|IL16_uc002bgg.1_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.1_Missense_Mutation_p.T704S|IL16_uc002bgk.1_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1210					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.460733	309.887144	310.143134	88	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79385512	79385512	7934	15	C	G	G	20	20	IL16	G	3	3
HS3ST6	64711	broad.mit.edu	36	16	1901836	1901836	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1901836C>T	uc002cnf.1	-	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	231											0														0.762887	228.883584	235.007726	74	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1901836	1901836	7663	16	C	T	T	27	27	HS3ST6	T	1	1
CLUAP1	23059	broad.mit.edu	36	16	3494768	3494768	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3494768A>G	uc002cvl.1	+	c.70A>G	c.(70-72)ATG>GTG	p.M24V	CLUAP1_uc002cvk.1_Missense_Mutation_p.M24V|CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	24						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3														0.913978	330.860884	346.920333	85	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3494768	3494768	3707	16	A	G	G	16	16	CLUAP1	G	4	4
PLCG2	5336	broad.mit.edu	36	16	80449439	80449439	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80449439G>A	uc002fgt.1	+	c.408G>A	c.(406-408)GCG>GCA	p.A136A	PLCG2_uc010chg.1_Silent_p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	136					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8										1880				0.4375	328.935879	329.925452	126	162	GG		KEEP	---	---	---	---	capture			Silent	SNP	80449439	80449439	12462	16	G	A	A	40	40	PLCG2	A	1	1
TP53	7157	broad.mit.edu	36	17	7518260	7518260	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518260C>G	uc002gim.2	-	c.746G>C	c.(745-747)AGG>ACG	p.R249T	TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.1_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249M(25)|p.R249T(15)|p.R249K(14)|p.0?(6)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R156_A161del(1)|p.R249_I251delRPI(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		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.659091	94.582973	95.565612	29	15	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518260	7518260	16923	17	C	G	G	24	24	TP53	G	3	3
TIMM22	29928	broad.mit.edu	36	17	847140	847140	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:847140C>G	uc002fsc.1	+	c.8C>G	c.(7-9)GCG>GGG	p.A3G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	3					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0														0.333333	6.474936	6.780753	4	8	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	Missense_Mutation	SNP	847140	847140	16439	17	C	G	G	27	27	TIMM22	G	3	3
CCDC42	146849	broad.mit.edu	36	17	8579535	8579535	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8579535C>T	uc002gln.1	-	c.612G>A	c.(610-612)GCG>GCA	p.A204A	CCDC42_uc002glo.1_Intron	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	204	Potential.			Missing (in Ref. 2; AAH29224).						ovary(1)	1														0.763889	167.351688	171.939098	55	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	8579535	8579535	2936	17	C	T	T	27	27	CCDC42	T	1	1
GATA6	2627	broad.mit.edu	36	18	18016765	18016765	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18016765G>A	uc002ktt.1	+	c.1478G>A	c.(1477-1479)CGA>CAA	p.R493Q	GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	493					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|gene-specific transcription from RNA polymerase II promoter|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		promoter binding|protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)								0.3	65.573203	68.42975	24	56	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.106)		Missense_Mutation	SNP	18016765	18016765	6522	18	G	A	A	37	37	GATA6	A	1	1
RAVER1	125950	broad.mit.edu	36	19	10295119	10295119	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10295119C>T	uc002moa.1	-	c.931G>A	c.(931-933)GTC>ATC	p.V311I		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	294	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.318182	17.924979	18.567362	7	15	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		Missense_Mutation	SNP	10295119	10295119	13555	19	C	T	T	20	20	RAVER1	T	2	2
CREB3L3	84699	broad.mit.edu	36	19	4119400	4119400	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4119400C>T	uc002lzl.1	+	c.767C>T	c.(766-768)TCG>TTG	p.S256L	CREB3L3_uc002lzm.1_Missense_Mutation_p.S246L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	256	Basic motif.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.342105	72.527218	74.201197	26	50	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4119400	4119400	3997	19	C	T	T	31	31	CREB3L3	T	1	1
PLEKHG2	64857	broad.mit.edu	36	19	44600486	44600486	+	Silent	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44600486C>G	uc002oli.2	+	c.858C>G	c.(856-858)CCC>CCG	p.P286P	PLEKHG2_uc002olj.2_Silent_p.P328P|PLEKHG2_uc010ego.1_Silent_p.P286P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	328	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			pancreas(1)|breast(1)|skin(1)	3	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)													0.923077	37.73208	39.497008	12	1	CC		KEEP	---	---	---	---	capture	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		Silent	SNP	44600486	44600486	12495	19	C	G	G	22	22	PLEKHG2	G	3	3
PPP1R13L	10848	broad.mit.edu	36	19	50591741	50591741	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50591741C>G	uc002pbn.1	-	c.614G>C	c.(613-615)CGC>CCC	p.R205P	PPP1R13L_uc002pbo.1_Missense_Mutation_p.R205P|PPP1R13L_uc002pbp.1_Missense_Mutation_p.R205P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	205	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding				0		all_neural(266;0.224)|Ovarian(192;0.231)				Pancreas(61;1447 1663 31419 50578)								0.4	7.991303	8.080369	4	6	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	Missense_Mutation	SNP	50591741	50591741	12793	19	C	G	G	27	27	PPP1R13L	G	3	3
KLK5	25818	broad.mit.edu	36	19	56145120	56145120	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56145120G>A	uc002pue.1	-	c.138C>T	c.(136-138)AGC>AGT	p.S46S	KLK5_uc002puf.1_Silent_p.S46S|KLK5_uc002pug.1_Silent_p.S46S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	46				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)												0.846154	102.394371	106.859263	33	6	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	Silent	SNP	56145120	56145120	8721	19	G	A	A	46	46	KLK5	A	2	2
CASZ1	54897	broad.mit.edu	36	1	10622364	10622364	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10622364C>T	uc001aro.1	-	c.4502G>A	c.(4501-4503)TGC>TAC	p.C1501Y		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1501				C -> R (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)												0.571429	23.400297	23.462337	8	6	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	Missense_Mutation	SNP	10622364	10622364	2804	1	C	T	T	25	25	CASZ1	T	2	2
RORC	6097	broad.mit.edu	36	1	150054141	150054141	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150054141C>T	uc001ezh.1	-	c.683G>A	c.(682-684)CGA>CAA	p.R228Q	RORC_uc001ezg.1_Missense_Mutation_p.R207Q	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)													0.4	107.326426	108.158231	38	57	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.181)		Missense_Mutation	SNP	150054141	150054141	14009	1	C	T	T	31	31	RORC	T	1	1
NTRK1	4914	broad.mit.edu	36	1	155116543	155116543	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155116543G>A	uc001fqh.1	+	c.2175G>A	c.(2173-2175)AAG>AAA	p.K725K	NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	725	Cytoplasmic (Potential).|Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.40553	256.254151	257.947123	88	129	GG		KEEP	---	---	---	---	capture			Silent	SNP	155116543	155116543	11111	1	G	A	A	34	34	NTRK1	A	2	2
KIAA0754	643314	broad.mit.edu	36	1	39651876	39651876	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39651876G>A	uc009vvt.1	+	c.3352G>A	c.(3352-3354)GCC>ACC	p.A1118T	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvr.1_Intron|MACF1_uc009vvs.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	982	9.|Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)												0.210526	7.703208	9.099812	4	15	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39651876	39651876	8499	1	G	A	A	38	38	KIAA0754	A	1	1
TOE1	114034	broad.mit.edu	36	1	45579804	45579804	+	Silent	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45579804C>G	uc009vxq.1	+	c.309C>G	c.(307-309)GCC>GCG	p.A103A	MUTYH_uc001cnf.1_5'Flank|MUTYH_uc009vxo.1_5'Flank|MUTYH_uc001cng.1_5'Flank|MUTYH_uc001cnj.1_5'Flank|MUTYH_uc001cni.1_5'Flank|MUTYH_uc001cnh.1_5'Flank|MUTYH_uc001cnm.1_5'Flank|MUTYH_uc001cno.1_5'Flank|MUTYH_uc001cnk.1_5'Flank|MUTYH_uc001cnl.1_5'Flank|MUTYH_uc009vxp.1_5'Flank|MUTYH_uc001cnn.1_5'Flank|TOE1_uc001cnq.2_Non-coding_Transcript|TOE1_uc001cnr.2_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	103						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)									28				0.410959	92.531301	93.038125	30	43	CC		KEEP	---	---	---	---	capture			Silent	SNP	45579804	45579804	16890	1	C	G	G	24	24	TOE1	G	3	3
MCOLN3	55283	broad.mit.edu	36	1	85264244	85264244	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85264244A>G	uc001dkp.1	-	c.1061T>C	c.(1060-1062)ATT>ACT	p.I354T	MCOLN3_uc001dko.1_5'Flank|MCOLN3_uc001dkq.1_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc009wck.1_Missense_Mutation_p.I120T|MCOLN3_uc001dks.2_Missense_Mutation_p.I199T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	354	Helical; (Potential).					integral to membrane	ion channel activity				0														0.525	74.47514	74.496795	21	19	AA		KEEP	---	---	---	---	capture		all cancers(265;0.00957)|Epithelial(280;0.0254)	Missense_Mutation	SNP	85264244	85264244	9786	1	A	G	G	4	4	MCOLN3	G	4	4
HFM1	164045	broad.mit.edu	36	1	91511944	91511944	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91511944T>C	uc001doa.2	-	c.3685A>G	c.(3685-3687)ATA>GTA	p.I1229V	HFM1_uc009wdb.1_Non-coding_Transcript|HFM1_uc001dob.2_Missense_Mutation_p.I417V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1229							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)												0.480769	155.544624	155.577924	50	54	TT		KEEP	---	---	---	---	capture		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	Missense_Mutation	SNP	91511944	91511944	7366	1	T	C	C	51	51	HFM1	C	4	4
DPYD	1806	broad.mit.edu	36	1	97620566	97620566	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:97620566C>A	uc001drv.1	-	c.1945G>T	c.(1945-1947)GAC>TAC	p.D649Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	649					'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|breast(2)	5		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)			Capecitabine(DB01101)|Enfuvirtide(DB00109)				p.D649N(MDAMB453-Tumor)	533				0.34375	29.913143	30.604234	11	21	CC		KEEP	---	---	---	---	capture		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Missense_Mutation	SNP	97620566	97620566	4929	1	C	A	A	29	29	DPYD	A	3	3
PROKR2	128674	broad.mit.edu	36	20	5231350	5231350	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5231350C>T	uc002wlx.2	-	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	PROKR2_uc010gbj.1_Missense_Mutation_p.R164Q|PROKR2_uc010gbk.1_Missense_Mutation_p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	164	Cytoplasmic (Potential).		R -> Q (in KAL3).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.299517	333.946149	348.811672	124	290	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5231350	5231350	12996	20	C	T	T	23	23	PROKR2	T	1	1
TFAP2C	7022	broad.mit.edu	36	20	54640135	54640135	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54640135C>A	uc002xya.1	+	c.516C>A	c.(514-516)CAC>CAA	p.H172Q		NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	172					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1														0.346154	52.635167	53.721407	18	34	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.229)		Missense_Mutation	SNP	54640135	54640135	16317	20	C	A	A	18	18	TFAP2C	A	3	3
THSD7B	80731	broad.mit.edu	36	2	137644925	137644925	+	Missense_Mutation	SNP	G	T	T			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:137644925G>T	uc002tva.1	+	c.1577G>T	c.(1576-1578)GGA>GTA	p.G526V	THSD7B_uc002tvb.2_Missense_Mutation_p.G416V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7														0.505051	145.741481	145.743568	50	49	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.19)	Missense_Mutation	SNP	137644925	137644925	16408	2	G	T	T	41	41	THSD7B	T	3	3
SUCLG1	8802	broad.mit.edu	36	2	84530352	84530352	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:84530352C>T	uc002son.1	-	c.133G>A	c.(133-135)GCT>ACT	p.A45T		NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming, alpha	45					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	Ovarian(48;203 1101 37206 40305 50790)								0.392523	129.724523	130.807573	42	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84530352	84530352	15884	2	C	T	T	28	28	SUCLG1	T	2	2
C2orf55	343990	broad.mit.edu	36	2	98779096	98779096	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98779096C>T	uc002szf.1	-	c.2668G>A	c.(2668-2670)GCT>ACT	p.A890T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	890											0														0.432161	505.244027	506.83901	172	226	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98779096	98779096	2264	2	C	T	T	27	27	C2orf55	T	1	1
POPDC2	64091	broad.mit.edu	36	3	120856066	120856066	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120856066C>T	uc003ecx.1	-	c.576G>A	c.(574-576)CAG>CAA	p.Q192Q	POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	192						integral to membrane				central_nervous_system(1)	1														0.375	196.612759	199.142667	69	115	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.242)	Silent	SNP	120856066	120856066	12684	3	C	T	T	28	28	POPDC2	T	2	2
ZIC1	7545	broad.mit.edu	36	3	148610776	148610776	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:148610776G>A	uc003ewe.1	+	c.187G>A	c.(187-189)GCC>ACC	p.A63T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	63					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.55	120.893467	121.066809	44	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148610776	148610776	18269	3	G	A	A	42	42	ZIC1	A	2	2
MED12L	116931	broad.mit.edu	36	3	152388949	152388949	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152388949C>T	uc003eyp.1	+	c.1745C>T	c.(1744-1746)CCC>CTC	p.P582L	MED12L_uc003eyn.2_Missense_Mutation_p.P582L|MED12L_uc003eyo.2_Missense_Mutation_p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	582					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5										59				0.432432	351.673115	352.698315	112	147	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Missense_Mutation	SNP	152388949	152388949	9818	3	C	T	T	22	22	MED12L	T	2	2
ADAMTS9	56999	broad.mit.edu	36	3	64502098	64502098	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:64502098G>A	uc003dmg.1	-	c.5325C>T	c.(5323-5325)CCC>CCT	p.P1775P		NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1775	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)												0.447761	475.809747	476.605949	150	185	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	Silent	SNP	64502098	64502098	274	3	G	A	A	47	47	ADAMTS9	A	2	2
CNTN3	5067	broad.mit.edu	36	3	74417219	74417219	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:74417219C>T	uc003dpm.1	-	c.2631G>A	c.(2629-2631)ACG>ACA	p.T877T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3	877	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)												0.491315	632.948909	632.974985	198	205	CC		KEEP	---	---	---	---	capture		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	Silent	SNP	74417219	74417219	3780	3	C	T	T	23	23	CNTN3	T	1	1
MAPKSP1	8649	broad.mit.edu	36	4	101024307	101024307	+	Splice_Site_SNP	SNP	T	G	G			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:101024307T>G	uc003hvg.1	-	c.238_splice	c.e6-1	p.V80_splice	MAPKSP1_uc003hvh.1_Splice_Site_SNP_p.V73_splice|MAPKSP1_uc003hvi.1_Splice_Site_SNP	NM_021970	NP_068805			MAPK scaffold protein 1						cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding				0														0.442857	108.020425	108.218841	31	39	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	101024307	101024307	9676	4	T	G	G	53	53	MAPKSP1	G	5	4
SLCO6A1	133482	broad.mit.edu	36	5	101843887	101843887	+	Missense_Mutation	SNP	T	A	A			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101843887T>A	uc003knn.2	-	c.509A>T	c.(508-510)AAA>ATA	p.K170I	SLCO6A1_uc003kno.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.1_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.1_Missense_Mutation_p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	170	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)												0.431818	213.781544	214.491485	76	100	TT		KEEP	---	---	---	---	capture		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	Missense_Mutation	SNP	101843887	101843887	15229	5	T	A	A	64	64	SLCO6A1	A	4	4
TRPC7	57113	broad.mit.edu	36	5	135720894	135720894	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:135720894C>T	uc003lbn.1	-	c.78G>A	c.(76-78)CGG>CGA	p.R26R	TRPC7_uc010jef.1_Silent_p.R18R|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Silent_p.R18R|TRPC7_uc010jei.1_Silent_p.R18R|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	27	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0														0.487805	302.175979	302.202422	100	105	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Silent	SNP	135720894	135720894	17135	5	C	T	T	22	22	TRPC7	T	2	2
PCDHA3	56145	broad.mit.edu	36	5	140163156	140163156	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140163156C>T	uc003lhf.1	+	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhe.1_Silent_p.G730G	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	730	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5														0.450847	378.737265	379.357225	133	162	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140163156	140163156	11945	5	C	T	T	27	27	PCDHA3	T	1	1
MTMR12	54545	broad.mit.edu	36	5	32291633	32291633	+	Splice_Site_SNP	SNP	T	C	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:32291633T>C	uc003jhq.1	-	c.714_splice	c.e8-1	p.R238_splice	MTMR12_uc010iuk.1_Splice_Site_SNP_p.R238_splice|MTMR12_uc010iul.1_Splice_Site_SNP_p.R238_splice	NM_001040446	NP_001035536			myotubularin related protein 12							cytoplasm	phosphatase activity			ovary(1)	1														0.333333	32.141333	32.878686	10	20	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	32291633	32291633	10334	5	T	C	C	53	53	MTMR12	C	5	4
STXBP5	134957	broad.mit.edu	36	6	147745747	147745747	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:147745747G>C	uc003qlz.2	+	c.3334G>C	c.(3334-3336)GGG>CGG	p.G1112R	STXBP5_uc010khz.1_Missense_Mutation_p.G1076R|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Missense_Mutation_p.G767R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	1112	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)												0.406091	226.44667	227.968669	80	117	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	Missense_Mutation	SNP	147745747	147745747	15876	6	G	C	C	35	35	STXBP5	C	3	3
ZFP57	346171	broad.mit.edu	36	6	29749050	29749050	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29749050C>G	uc003nnl.2	-	c.757G>C	c.(757-759)GAG>CAG	p.E253Q		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	189	C2H2-type 4.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)	3														0.415385	276.121896	277.34503	81	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29749050	29749050	18239	6	C	G	G	29	29	ZFP57	G	3	3
C6orf127	340204	broad.mit.edu	36	6	35862837	35862837	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35862837G>A	uc003old.2	+	c.184G>A	c.(184-186)GCG>ACG	p.A62T		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	hypothetical protein LOC340204	62					digestion|lipid catabolic process	extracellular region	enzyme activator activity				0														1	14.267706	14.207015	4	0	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35862837	35862837	2429	6	G	A	A	38	38	C6orf127	A	1	1
NDUFA4	4697	broad.mit.edu	36	7	10946186	10946186	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:10946186C>G	uc003srx.1	-	c.24G>C	c.(22-24)CAG>CAC	p.Q8H		NM_002489	NP_002480	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	8					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.213904	304.389234	346.802431	120	441	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	Missense_Mutation	SNP	10946186	10946186	10665	7	C	G	G	24	24	NDUFA4	G	3	3
GRM8	2918	broad.mit.edu	36	7	126670096	126670096	+	Silent	SNP	A	G	G			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:126670096A>G	uc003vlr.2	-	c.399T>C	c.(397-399)TGT>TGC	p.C133C	GRM8_uc003vls.2_Silent_p.C133C|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	133	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.273504	179.622683	190.424064	64	170	AA		KEEP	---	---	---	---	capture			Silent	SNP	126670096	126670096	7082	7	A	G	G	6	6	GRM8	G	4	4
TSGA13	114960	broad.mit.edu	36	7	130008211	130008211	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:130008211G>A	uc003vqi.1	-	c.433C>T	c.(433-435)CGC>TGC	p.R145C	TSGA13_uc003vqj.1_Missense_Mutation_p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	145										ovary(2)	2	Melanoma(18;0.0435)													0.283133	131.054184	138.066778	47	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130008211	130008211	17170	7	G	A	A	39	39	TSGA13	A	1	1
TRPV5	56302	broad.mit.edu	36	7	142335310	142335310	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142335310G>A	uc003wby.1	-	c.904C>T	c.(904-906)CGA>TGA	p.R302*	TRPV5_uc003wbz.2_Nonsense_Mutation_p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	302	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(1)		ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.316964	193.444503	200.117667	71	153	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	142335310	142335310	17150	7	G	A	A	40	40	TRPV5	A	5	1
DNAH11	8701	broad.mit.edu	36	7	21577989	21577989	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21577989G>A	uc003svc.1	+	c.1466G>A	c.(1465-1467)AGA>AAA	p.R489K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	489	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.285714	83.903054	88.231648	30	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21577989	21577989	4781	7	G	A	A	33	33	DNAH11	A	2	2
CHN2	1124	broad.mit.edu	36	7	29506090	29506090	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:29506090G>A	uc003szz.1	+	c.822G>A	c.(820-822)GTG>GTA	p.V274V	CHN2_uc010kva.1_Silent_p.V44V|CHN2_uc010kvb.1_Intron|CHN2_uc010kvc.1_Silent_p.V239V|CHN2_uc010kvd.1_Silent_p.V130V|CHN2_uc010kve.1_Silent_p.V138V|CHN2_uc003taa.1_Silent_p.V138V|CHN2_uc010kvf.1_Intron|CHN2_uc010kvg.1_Silent_p.V138V|CHN2_uc010kvh.1_Intron|CHN2_uc010kvi.1_Silent_p.V138V|CHN2_uc010kvj.1_Silent_p.V93V|CHN2_uc010kvk.1_Intron|CHN2_uc010kvl.1_Non-coding_Transcript|CHN2_uc010kvm.1_Silent_p.V93V	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	274					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						Ovarian(1;44 48 13232 18918 31480)								0.26875	104.956654	112.678464	43	117	GG		KEEP	---	---	---	---	capture			Silent	SNP	29506090	29506090	3497	7	G	A	A	48	48	CHN2	A	2	2
ELN	2006	broad.mit.edu	36	7	73109958	73109958	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73109958G>A	uc003tzw.1	+	c.1410G>A	c.(1408-1410)CAG>CAA	p.Q470Q	ELN_uc003tzn.1_Silent_p.Q470Q|ELN_uc003tzz.1_Intron|ELN_uc003tzo.1_Intron|ELN_uc003tzp.1_Intron|ELN_uc003tzq.1_Intron|ELN_uc003tzr.1_Intron|ELN_uc003tzs.1_Intron|ELN_uc003tzt.1_Silent_p.Q475Q|ELN_uc003tzu.1_Intron|ELN_uc003tzv.1_Intron|ELN_uc010lbk.1_Non-coding_Transcript|ELN_uc003tzx.1_Silent_p.Q460Q|ELN_uc003tzy.1_Intron	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	499	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)					434				0.292857	97.968523	103.321933	41	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	73109958	73109958	5263	7	G	A	A	36	36	ELN	A	2	2
GNAT3	346562	broad.mit.edu	36	7	79929484	79929484	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:79929484G>C	uc010leb.1	-	c.801C>G	c.(799-801)TTC>TTG	p.F267L	CD36_uc003uhc.1_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	267					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1														0.314815	55.656469	57.30341	17	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79929484	79929484	6782	7	G	C	C	41	41	GNAT3	C	3	3
CALCR	799	broad.mit.edu	36	7	92929323	92929323	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92929323T>C	uc003umv.1	-	c.611A>G	c.(610-612)TAT>TGT	p.Y204C	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umw.2_Intron	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor	186	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)				Salmon Calcitonin(DB00017)									0.2	8.217253	9.472004	3	12	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000244)		Missense_Mutation	SNP	92929323	92929323	2695	7	T	C	C	49	49	CALCR	C	4	4
EIF3H	8667	broad.mit.edu	36	8	117807508	117807508	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:117807508C>T	uc003yob.1	-	c.259G>A	c.(259-261)GAA>AAA	p.E87K	EIF3H_uc003yoa.1_Missense_Mutation_p.E73K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	73	MPN.			E -> K (in Ref. 2; AAC84044).	regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)									241				0.4	153.624957	154.718236	50	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117807508	117807508	5209	8	C	T	T	32	32	EIF3H	T	2	2
NAPRT1	93100	broad.mit.edu	36	8	144728541	144728541	+	Missense_Mutation	SNP	A	C	C			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144728541A>C	uc003yyo.2	-	c.1409T>G	c.(1408-1410)GTG>GGG	p.V470G	C8orf73_uc010mff.1_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyl.1_Missense_Mutation_p.V446G|NAPRT1_uc003yym.2_Missense_Mutation_p.V470G|NAPRT1_uc003yyn.2_Splice_Site_SNP_p.Q469_splice	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	470					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)									3				0.171429	6.84711	10.418579	6	29	AA		KEEP	---	---	---	---	capture	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144728541	144728541	10561	8	A	C	C	6	6	NAPRT1	C	4	4
FAM83H	286077	broad.mit.edu	36	8	144880887	144880887	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144880887C>T	uc003yzk.1	-	c.2732G>A	c.(2731-2733)CGC>CAC	p.R911H	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	911					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.511628	64.044672	64.049576	22	21	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144880887	144880887	5866	8	C	T	T	27	27	FAM83H	T	1	1
CYLC2	1539	broad.mit.edu	36	9	104803709	104803709	+	Missense_Mutation	SNP	A	T	T			TCGA-76-4925-01	TCGA-76-4925-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:104803709A>T	uc004bbs.1	+	c.46A>T	c.(46-48)AAT>TAT	p.N16Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	16					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.428571	97.159222	97.502247	33	44	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104803709	104803709	4307	9	A	T	T	13	13	CYLC2	T	4	4
ENG	2022	broad.mit.edu	36	9	129645239	129645239	+	Silent	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129645239G>A	uc004bsj.2	-	c.174C>T	c.(172-174)CCC>CCT	p.P58P	ENG_uc004bsk.2_Silent_p.P58P	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	58	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction|transforming growth factor beta receptor complex	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														0.484487	642.030468	642.116294	203	216	GG		KEEP	---	---	---	---	capture			Silent	SNP	129645239	129645239	5310	9	G	A	A	47	47	ENG	A	2	2
KIAA1984	84960	broad.mit.edu	36	9	138820433	138820433	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4925-01	TCGA-76-4925-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138820433T>G	uc004cjf.1	+	c.1031T>G	c.(1030-1032)GTG>GGG	p.V344G	LOC100131193_uc004cjg.1_Intron|C9orf86_uc004cjh.1_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	344	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)												0.857143	17.903309	18.710676	6	1	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	Missense_Mutation	SNP	138820433	138820433	8577	9	T	G	G	59	59	KIAA1984	G	4	4
DENND4C	55667	broad.mit.edu	36	9	19295352	19295352	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4925-01	TCGA-76-4925-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19295352G>A	uc003znq.1	+	c.606G>A	c.(604-606)ATG>ATA	p.M202I		NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	202	DENN.|Helical; (Potential).					integral to membrane				ovary(1)	1														0.827778	473.85782	492.116477	149	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19295352	19295352	4614	9	G	A	A	45	45	DENND4C	A	2	2
BHLHB9	80823	broad.mit.edu	36	X	101891061	101891061	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101891061C>T	uc004ejo.1	+	c.482C>T	c.(481-483)CCT>CTT	p.P161L	BHLHB9_uc004ejp.1_Missense_Mutation_p.P161L|BHLHB9_uc010nog.1_Missense_Mutation_p.P161L	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	161						cytoplasm|nucleus	binding			ovary(2)	2														0.937853	574.093925	601.351638	166	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101891061	101891061	1445	23	C	T	T	24	24	BHLHB9	T	2	2
FAM127C	441518	broad.mit.edu	36	X	133983847	133983847	+	Silent	SNP	C	T	T			TCGA-76-4925-01	TCGA-76-4925-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:133983847C>T	uc004eyc.1	-	c.309G>A	c.(307-309)CGG>CGA	p.R103R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	103											0	Acute lymphoblastic leukemia(192;0.000127)													0.857143	230.297639	239.758923	66	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	133983847	133983847	5630	23	C	T	T	22	22	FAM127C	T	2	2
PTEN	5728	broad.mit.edu	36	10	89707695	89707696	+	Frame_Shift_Ins	INS	-	A	A			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89707695_89707696insA	uc001kfb.1	+	c.740_741insA	c.(739-741)TTAfs	p.L247fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	C2 tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P248fs*5(11)|p.L247*(3)|p.L247fs*4(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.G165_*404del(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.84			89	17				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	89707695	89707696	13192	10	-	A	A	61	61	PTEN	A	5	5
OR8K3	219473	broad.mit.edu	36	11	55842692	55842692	+	Frame_Shift_Del	DEL	C	-	-			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55842692_55842692delC	uc001niq.1	+	c.334_334delC	c.(334-336)CTTfs	p.L112fs		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.42			74	104				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	55842692	55842692	11655	11	C	-	-	20	20	OR8K3	-	5	5
ZNF598	90850	broad.mit.edu	36	16	1989883	1989884	+	In_Frame_Ins	INS	-	TCC	TCC			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1989883_1989884insTCC	uc002cof.1	-	c.1667_1668insGGA	c.(1666-1668)GAC>GAGGAC	p.555_556insE	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	555_556						intracellular	zinc ion binding				0														0.60			6	4				---	---	---	---	capture_indel			In_Frame_Ins	INS	1989883	1989884	18623	16	-	TCC	TCC	40	40	ZNF598	TCC	5	5
DDX5	1655	broad.mit.edu	36	17	59930561	59930564	+	Splice_Site_Del	DEL	ACAG	-	-			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59930561_59930564delACAG	uc010deh.1	-	c.e4_splice_site			DDX5_uc002jek.1_Splice_Site_Del|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387			DEAD (Asp-Glu-Ala-Asp) box polypeptide 5						cell growth|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			NSCLC(22;406 813 4871 19580 40307)								0.35			119	220				---	---	---	---	capture_indel			Splice_Site_Del	DEL	59930561	59930564	4538	17	ACAG	-	-	14	14	DDX5	-	5	5
NCDN	23154	broad.mit.edu	36	1	35799015	35799018	+	Frame_Shift_Del	DEL	AGTG	-	-			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35799015_35799018delAGTG	uc001bza.1	+	c.676_679delAGTG	c.(676-681)AGTGAGfs	p.S226fs	NCDN_uc001bzb.1_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.1_Frame_Shift_Del_p.S209fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	226_227					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.33			58	117				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	35799015	35799018	10613	1	AGTG	-	-	7	7	NCDN	-	5	5
GFRA4	64096	broad.mit.edu	36	20	3589311	3589311	+	Frame_Shift_Del	DEL	C	-	-			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3589311_3589311delC	uc002wio.1	-	c.589_589delG	c.(589-591)GCAfs	p.A197fs	GFRA4_uc002win.1_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4 isoform b	197						anchored to membrane|extracellular region|plasma membrane	receptor activity				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	3589311	3589311	6618	20	C	-	-	27	27	GFRA4	-	5	5
PCDP1	200373	broad.mit.edu	36	2	120079274	120079275	+	Frame_Shift_Ins	INS	-	CACT	CACT			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120079274_120079275insCACT	uc002tmb.1	+	c.214_215insCACT	c.(214-216)GCAfs	p.A72fs		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	358						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.32			56	118				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	120079274	120079275	11992	2	-	CACT	CACT	42	42	PCDP1	CACT	5	5
DMD	1756	broad.mit.edu	36	X	31764774	31764775	+	Frame_Shift_Ins	INS	-	G	G			TCGA-76-4925-01	TCGA-76-4925-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31764774_31764775insG	uc004dda.1	-	c.7181_7182insC	c.(7180-7182)CCAfs	p.P2394fs	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Frame_Shift_Ins_p.P1050fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.P1053fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.P2271fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.P2390fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.P2386fs|DMD_uc004ddd.1_5'UTR	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2394					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)												0.54			72	62				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	31764774	31764775	4760	23	-	G	G	55	55	DMD	G	5	5
