Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
RBP3	5949	broad.mit.edu	37	10	48389514	48389514	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48389514A>G	uc001jez.2	-	c.1364T>C	c.(1363-1365)GTG>GCG	p.V455A		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	455	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.166667	10.356726	14.127756	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48389514	48389514	13626	10	A	G	G	G	78	6	RBP3	4	4
FOLH1	2346	broad.mit.edu	37	11	49178267	49178267	+	Splice_Site_SNP	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49178267A>G	uc001ngy.2	-	c.1623_splice	c.e15+1	p.W541_splice	FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Splice_Site_SNP_p.W541_splice|FOLH1_uc009yly.2_Splice_Site_SNP_p.W526_splice|FOLH1_uc009ylz.2_Splice_Site_SNP_p.W526_splice|FOLH1_uc009yma.2_Splice_Site_SNP_p.W233_splice	NM_004476	NP_004467			folate hydrolase 1 isoform 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.152941	51.973828	71.551079	26	144	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49178267	49178267	6221	11	A	G	G	G	182	14	FOLH1	5	4
AHNAK	79026	broad.mit.edu	37	11	62298187	62298187	+	Silent	SNP	G	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62298187G>C	uc001ntl.2	-	c.3702C>G	c.(3700-3702)CCC>CCG	p.P1234P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1234					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.177285	122.907938	158.358033	64	297	KEEP	---	---	---	---	capture		Silent	SNP	62298187	62298187	417	11	G	C	C	C	600	47	AHNAK	3	3
CDC42EP2	10435	broad.mit.edu	37	11	65088480	65088480	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65088480C>A	uc001odl.2	+	c.111C>A	c.(109-111)TTC>TTA	p.F37L		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	37	CRIB.				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0														0.220588	32.196111	37.079412	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65088480	65088480	3204	11	C	A	A	A	389	30	CDC42EP2	2	2
GRM5	2915	broad.mit.edu	37	11	88780796	88780796	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88780796T>C	uc001pcq.2	-	c.245A>G	c.(244-246)GAC>GGC	p.D82G	GRM5_uc009yvm.2_Missense_Mutation_p.D82G|GRM5_uc009yvn.1_Missense_Mutation_p.D82G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	82	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.448276	39.502728	39.578617	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88780796	88780796	7079	11	T	C	C	C	754	58	GRM5	4	4
ATP8B4	79895	broad.mit.edu	37	15	50211114	50211114	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50211114G>A	uc001zxu.2	-	c.1957C>T	c.(1957-1959)CAG>TAG	p.Q653*	ATP8B4_uc010ber.2_Nonsense_Mutation_p.Q526*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.Q463*|ATP8B4_uc010ufe.1_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	653	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.173913	38.627516	50.171766	20	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50211114	50211114	1216	15	G	A	A	A	624	48	ATP8B4	5	2
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9858195G>A	uc002czo.3	-	c.3206C>T	c.(3205-3207)ACG>ATG	p.T1069M	GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1069	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.212121	60.75461	70.851033	28	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9858195	9858195	7058	16	G	A	A	A	520	40	GRIN2A	1	1
TP53	7157	broad.mit.edu	37	17	7573967	7573967	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7573967G>A	uc002gim.2	-	c.1060C>T	c.(1060-1062)CAG>TAG	p.Q354*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q222*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q354*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	354	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q -> R (in sporadic cancers; somatic mutation).|Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (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.0?(6)|p.I332fs*5(1)|p.Q354K(1)|p.?(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.181818	7.893491	9.98086	4	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7573967	7573967	16923	17	G	A	A	A	611	47	TP53	5	2
CABLES1	91768	broad.mit.edu	37	18	20814573	20814573	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:20814573G>A	uc002kuc.2	+	c.1090G>A	c.(1090-1092)GAC>AAC	p.D364N	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Missense_Mutation_p.D99N	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	364	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding				0	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.4375	18.183853	18.244108	7	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20814573	20814573	2645	18	G	A	A	A	533	41	CABLES1	2	2
CIB3	117286	broad.mit.edu	37	19	16284278	16284278	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16284278G>T	uc002nds.2	-	c.9C>A	c.(7-9)AAC>AAA	p.N3K	CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_Non-coding_Transcript|CIB3_uc010eag.2_Missense_Mutation_p.N3K	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	3							calcium ion binding			ovary(1)	1														0.267606	51.734607	55.171079	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16284278	16284278	3556	19	G	T	T	T	620	48	CIB3	2	2
IRF3	3661	broad.mit.edu	37	19	50167985	50167985	+	Silent	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50167985A>G	uc010end.1	-	c.111T>C	c.(109-111)CCT>CCC	p.P37P	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Silent_p.P37P|IRF3_uc002pox.1_Silent_p.P37P|IRF3_uc002poy.1_Silent_p.P37P|IRF3_uc002pou.2_Silent_p.P37P|IRF3_uc002pov.2_Intron|IRF3_uc002pow.2_Silent_p.P37P|IRF3_uc002poz.1_Silent_p.P37P|IRF3_uc010ene.1_Silent_p.P37P|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	37	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)										0.223214	67.539018	75.411663	25	87	KEEP	---	---	---	---	capture		Silent	SNP	50167985	50167985	8134	19	A	G	G	G	28	3	IRF3	4	4
PDE4DIP	9659	broad.mit.edu	37	1	144918885	144918885	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144918885T>C	uc001elw.3	-	c.1301A>G	c.(1300-1302)CAA>CGA	p.Q434R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q500R|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q597R|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q221R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	434	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.222517	365.939764	419.639348	168	587	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144918885	144918885	12064	1	T	C	C	C	819	63	PDE4DIP	4	4
EIF2C1	26523	broad.mit.edu	37	1	36383924	36383924	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36383924T>C	uc001bzl.2	+	c.2165T>C	c.(2164-2166)ATT>ACT	p.I722T	EIF2C1_uc001bzk.2_Missense_Mutation_p.I647T|EIF2C1_uc009vuy.2_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	722	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.182243	89.625799	109.897312	39	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36383924	36383924	5194	1	T	C	C	C	676	52	EIF2C1	4	4
INADL	10207	broad.mit.edu	37	1	62455859	62455859	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62455859T>A	uc001dab.2	+	c.3690T>A	c.(3688-3690)TAT>TAA	p.Y1230*	INADL_uc009waf.1_Nonsense_Mutation_p.Y1230*|INADL_uc001daa.2_Nonsense_Mutation_p.Y1230*|INADL_uc001dad.3_Nonsense_Mutation_p.Y927*|INADL_uc001dac.2_Non-coding_Transcript|INADL_uc010oot.1_Nonsense_Mutation_p.Y14*|INADL_uc009wag.2_Nonsense_Mutation_p.Y14*|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1230					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.377778	52.500978	53.076734	17	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62455859	62455859	8032	1	T	A	A	A	660	51	INADL	5	3
AGRN	375790	broad.mit.edu	37	1	984830	984830	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:984830G>A	uc001ack.1	+	c.4513G>A	c.(4513-4515)GTG>ATG	p.V1505M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1505	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)										0.24	12.229388	13.783398	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	984830	984830	400	1	G	A	A	A	520	40	AGRN	1	1
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:29992817A>G	uc002wvv.1	-	c.130T>C	c.(130-132)TGC>CGC	p.C44R		NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	defensin, beta 121 precursor	44					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)											0.176471	36.26636	46.374344	18	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29992817	29992817	4585	20	A	G	G	G	104	8	DEFB121	4	4
PI4KA	5297	broad.mit.edu	37	22	21083678	21083678	+	Silent	SNP	C	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21083678C>G	uc002zsz.3	-	c.4431G>C	c.(4429-4431)CTG>CTC	p.L1477L	PI4KA_uc002zsy.3_Silent_p.L287L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1477					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|salivary_gland(1)	3	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GBM(136;1332 1831 3115 23601 50806)				873				0.166667	5.142419	6.406322	2	10	KEEP	---	---	---	---	capture		Silent	SNP	21083678	21083678	12297	22	C	G	G	G	366	29	PI4KA	3	3
WBP2NL	164684	broad.mit.edu	37	22	42415801	42415801	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42415801C>T	uc011ape.1	+	c.307C>T	c.(307-309)CCA>TCA	p.P103S	WBP2NL_uc003bbt.2_Missense_Mutation_p.P103S|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	103					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2														0.288462	78.972418	83.171548	30	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42415801	42415801	17832	22	C	T	T	T	390	30	WBP2NL	2	2
TTLL12	23170	broad.mit.edu	37	22	43564118	43564118	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43564118C>T	uc003bdq.2	-	c.1831G>A	c.(1831-1833)GAC>AAC	p.D611N	TTLL12_uc003bdp.2_3'UTR|TTLL12_uc003bdr.1_Missense_Mutation_p.D611N	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	611	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)												0.279412	48.108649	51.077267	19	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43564118	43564118	17280	22	C	T	T	T	403	31	TTLL12	1	1
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178952085A>G	uc003fjk.2	+	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1204)|p.H1047L(134)|p.H1047Y(4)|p.H1047T(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			Colon(199;1504 1750 3362 26421 31210 32040)	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	p.H1047R(LS180-Tumor)|p.H1047R(UACC893-Tumor)|p.H1047R(HSC2-Tumor)|p.H1047R(BT20-Tumor)|p.H1047R(SKOV3-Tumor)|p.H1047L(GP2D-Tumor)|p.H1047R(T47D-Tumor)|p.H1047R(SNU840-Tumor)|p.H1047R(CAL148-Tumor)|p.H1047R(HCT116-Tumor)|p.H1047R(SNUC5-Tumor)|p.H1047R(MCAS-Tumor)|p.H1047R(SNU1076-Tumor)|p.H1047R(HCC1954-Tumor)|p.H1047L(OAW42-Tumor)|p.H1047L(EFM19-Tumor)|p.H1047R(RKO-Tumor)|p.H1047R(CAL29-Tumor)|p.H1047R(CAL33-Tumor)|p.H1047R(MDAMB453-Tumor)|p.H1047R(NCIH1048-Tumor)|p.H1047R(SNU407-Tumor)	621	TCGA GBM(8;5.49e-07)			0.291667	36.834202	38.698269	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178952085	178952085	12337	3	A	G	G	G	104	8	PIK3CA	4	4
SCN5A	6331	broad.mit.edu	37	3	38592973	38592973	+	Silent	SNP	T	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38592973T>A	uc003cio.2	-	c.4890A>T	c.(4888-4890)ATA>ATT	p.I1630I	SCN5A_uc003cin.2_Silent_p.I1629I|SCN5A_uc003cil.3_Silent_p.I1630I|SCN5A_uc010hhi.2_Silent_p.I1612I|SCN5A_uc010hhk.2_Silent_p.I1597I|SCN5A_uc011ayr.1_Silent_p.I1576I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1630	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.230769	44.062778	49.206931	18	60	KEEP	---	---	---	---	capture		Silent	SNP	38592973	38592973	14404	3	T	A	A	A	680	53	SCN5A	3	3
EPHA3	2042	broad.mit.edu	37	3	89462377	89462377	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89462377G>T	uc003dqy.2	+	c.1849G>T	c.(1849-1851)GAT>TAT	p.D617Y	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	617	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.253012	48.532737	53.132898	21	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89462377	89462377	5361	3	G	T	T	T	533	41	EPHA3	2	2
BRPF1	7862	broad.mit.edu	37	3	9780966	9780966	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9780966A>G	uc003bsf.2	+	c.883A>G	c.(883-885)ATG>GTG	p.M295V	BRPF1_uc003bse.2_Missense_Mutation_p.M295V|BRPF1_uc003bsg.2_Missense_Mutation_p.M295V|BRPF1_uc011ati.1_Missense_Mutation_p.M295V	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	295	PHD-type.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.25	24.131513	26.403801	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9780966	9780966	1551	3	A	G	G	G	104	8	BRPF1	4	4
CAMK2D	817	broad.mit.edu	37	4	114530323	114530323	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114530323T>C	uc003ibo.3	-	c.260A>G	c.(259-261)TAC>TGC	p.Y87C	CAMK2D_uc003ibi.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibj.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibk.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibm.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibn.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibl.2_Missense_Mutation_p.Y87C	NM_172114	NP_742112	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	87	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)						372				0.403509	77.318749	77.781257	23	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114530323	114530323	2718	4	T	C	C	C	741	57	CAMK2D	4	4
TLR6	10333	broad.mit.edu	37	4	38830532	38830532	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38830532G>A	uc003gtm.2	-	c.563C>T	c.(562-564)ACA>ATA	p.T188I	TLR6_uc010ifg.1_Missense_Mutation_p.T188I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	188	Extracellular (Potential).|LRR 6.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.186047	14.898052	18.862684	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38830532	38830532	16485	4	G	A	A	A	624	48	TLR6	2	2
CEP135	9662	broad.mit.edu	37	4	56830457	56830457	+	Silent	SNP	A	C	C			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56830457A>C	uc003hbi.2	+	c.717A>C	c.(715-717)CGA>CGC	p.R239R	CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Silent_p.R69R	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	239	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.102941	6.90192	17.556674	7	61	KEEP	---	---	---	---	capture		Silent	SNP	56830457	56830457	3380	4	A	C	C	C	132	11	CEP135	4	4
METAP1	23173	broad.mit.edu	37	4	99982307	99982307	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:99982307G>A	uc003huf.3	+	c.1000G>A	c.(1000-1002)GGA>AGA	p.G334R	METAP1_uc003hug.2_Non-coding_Transcript|METAP1_uc010ild.2_Non-coding_Transcript	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	334					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)										0.153226	32.511305	46.728222	19	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99982307	99982307	9875	4	G	A	A	A	507	39	METAP1	1	1
MAN2A1	4124	broad.mit.edu	37	5	109091091	109091091	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:109091091A>G	uc003kou.1	+	c.769A>G	c.(769-771)ACT>GCT	p.T257A		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	257	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)										0.150943	29.538282	41.909918	16	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109091091	109091091	9597	5	A	G	G	G	182	14	MAN2A1	4	4
CYFIP2	26999	broad.mit.edu	37	5	156787321	156787321	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156787321C>T	uc003lwq.2	+	c.2849C>T	c.(2848-2850)ACA>ATA	p.T950I	CYFIP2_uc011ddn.1_Missense_Mutation_p.T924I|CYFIP2_uc011ddo.1_Missense_Mutation_p.T754I|CYFIP2_uc003lwr.2_Missense_Mutation_p.T950I|CYFIP2_uc003lws.2_Missense_Mutation_p.T950I|CYFIP2_uc003lwt.2_Missense_Mutation_p.T853I|CYFIP2_uc011ddp.1_Missense_Mutation_p.T684I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	975					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.130081	18.38749	34.844765	16	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156787321	156787321	4303	5	C	T	T	T	221	17	CYFIP2	2	2
FERD3L	222894	broad.mit.edu	37	7	19184591	19184591	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184591G>A	uc003suo.1	-	c.395C>T	c.(394-396)GCT>GTT	p.A132V		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	132	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.088235	3.297911	26.61369	12	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184591	19184591	6053	7	G	A	A	A	442	34	FERD3L	2	2
ZMIZ2	83637	broad.mit.edu	37	7	44806175	44806175	+	Silent	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44806175G>A	uc003tlr.2	+	c.2568G>A	c.(2566-2568)ACG>ACA	p.T856T	ZMIZ2_uc003tlq.2_Silent_p.T798T|ZMIZ2_uc003tls.2_Silent_p.T830T|ZMIZ2_uc003tlt.2_Silent_p.T479T|ZMIZ2_uc010kyj.2_Silent_p.T378T|ZMIZ2_uc003tlu.2_Silent_p.T137T|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	856	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.267442	60.588356	64.787571	23	63	KEEP	---	---	---	---	capture		Silent	SNP	44806175	44806175	18288	7	G	A	A	A	496	39	ZMIZ2	1	1
SLC24A2	25769	broad.mit.edu	37	9	19786259	19786259	+	Silent	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19786259G>A	uc003zoa.1	-	c.606C>T	c.(604-606)AAC>AAT	p.N202N	SLC24A2_uc003zob.1_Silent_p.N202N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	202	Extracellular (Potential).|Alpha-1.				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)										0.266667	51.836562	55.481342	20	55	KEEP	---	---	---	---	capture		Silent	SNP	19786259	19786259	14963	9	G	A	A	A	516	40	SLC24A2	1	1
CDKN2A	1029	broad.mit.edu	37	9	21971077	21971077	+	Silent	SNP	A	G	G			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971077A>G	uc003zpl.2	-	c.447T>C	c.(445-447)GCT>GCC	p.A149A	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.L94P|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	124	ANK 4.		R -> H (in an esophagus tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(425)|p.H83fs*2(2)|p.L94fs*52(1)|p.E61_L94del(1)|p.T93_D105del(1)|p.A68fs*3(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)				17		76	TSP Lung(5;3.83e-07)			0.210526	8.490229	9.96315	4	15	KEEP	---	---	---	---	capture		Silent	SNP	21971077	21971077	3290	9	A	G	G	G	91	7	CDKN2A	4	4
C9orf3	84909	broad.mit.edu	37	9	97522766	97522766	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97522766C>T	uc004ava.2	+	c.701C>T	c.(700-702)GCT>GTT	p.A234V	C9orf3_uc011lui.1_Non-coding_Transcript|C9orf3_uc004aux.1_Missense_Mutation_p.A234V|C9orf3_uc004auy.2_Missense_Mutation_p.A234V|C9orf3_uc004auz.1_Missense_Mutation_p.A234V	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	234					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)										0.28	17.804396	18.899994	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97522766	97522766	2592	9	C	T	T	T	364	28	C9orf3	2	2
TKTL1	8277	broad.mit.edu	37	X	153553709	153553709	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153553709C>T	uc004fkg.2	+	c.1342C>T	c.(1342-1344)CGA>TGA	p.R448*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.R442*|TKTL1_uc011mzm.1_Nonsense_Mutation_p.R244*|TKTL1_uc004fkh.2_Nonsense_Mutation_p.R392*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	448					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.2	52.126823	60.906142	21	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153553709	153553709	16464	23	C	T	T	T	295	23	TKTL1	5	1
TGIF2LX	90316	broad.mit.edu	37	X	89177431	89177431	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177431G>A	uc004efe.2	+	c.347G>A	c.(346-348)CGT>CAT	p.R116H		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.242718	61.329876	67.542291	25	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89177431	89177431	16355	23	G	A	A	A	520	40	TGIF2LX	1	1
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site_Del	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	-	rs7410276;rs71723140;rs73891177;rs113299196;rs12160965	byFrequency;by1000genomes;byFrequency;by1000genomes;by1000genomes	TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	uc010hal.2	+	c.593_splice	c.e6-1	p.V198_splice	CRELD2_uc003biz.3_Intron|CRELD2_uc010haj.2_Intron|CRELD2_uc003bja.2_Intron|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Intron	NM_001135101	NP_001128573			cysteine-rich with EGF-like domains 2 isoform a							endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)										0.60			6	4		---	---	---	---	capture_indel		Splice_Site_Del	DEL	50315936	50315973	4006	22	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	-	-	274	22	CRELD2	5	5
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	-	-			TCGA-44-5645-01	TCGA-44-5645-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139422532_139422534delGCT	uc003lev.1	-	c.121_123delAGC	c.(121-123)AGCdel	p.S41del	NRG2_uc003lew.1_In_Frame_Del_p.S41del|NRG2_uc003lex.1_In_Frame_Del_p.S41del|NRG2_uc003ley.1_In_Frame_Del_p.S41del	NM_013982	NP_053585	O14511	NRG2_HUMAN	neuregulin 2 isoform 3	41	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	139422532	139422534	11053	5	GCT	-	-	-	490	38	NRG2	5	5
