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
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74033978C>T	uc001jsx.1	+	c.4C>T	c.(4-6)CCT>TCT	p.P2S		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	2					apoptosis					pancreas(1)	1														0.307692	127.536372	132.682366	48	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74033978	74033978	4502	10	C	T	T	T	338	26	DDIT4	2	2
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121495876C>T	uc001pxx.2	+	c.6254C>T	c.(6253-6255)TCC>TTC	p.S2085F	SORL1_uc010rzp.1_Missense_Mutation_p.S931F|SORL1_uc010rzq.1_Missense_Mutation_p.S700F	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2085	Extracellular (Potential).|Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.027237	-50.596135	12.804278	7	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121495876	121495876	15434	11	C	T	T	T	390	30	SORL1	2	2
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62751060G>T	uc001nwk.2	-	c.577C>A	c.(577-579)CTC>ATC	p.L193I	SLC22A6_uc001nwl.2_Missense_Mutation_p.L193I|SLC22A6_uc001nwj.2_Missense_Mutation_p.L193I|SLC22A6_uc001nwm.2_Missense_Mutation_p.L193I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	193	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.333333	19.217079	19.734152	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62751060	62751060	14955	11	G	T	T	T	442	34	SLC22A6	2	2
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085756C>T	uc001pdj.3	+	c.478C>T	c.(478-480)CCC>TCC	p.P160S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	160	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.25	60.352238	65.807415	24	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92085756	92085756	5927	11	C	T	T	T	234	18	FAT3	2	2
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29598221C>G	uc001rix.1	-	c.2871G>C	c.(2869-2871)TTG>TTC	p.L957F		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	957	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.07619	3.333405	22.637624	8	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29598221	29598221	11736	12	C	G	G	G	376	29	OVCH1	3	3
TPTE2	93492	broad.mit.edu	37	13	20038655	20038655	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20038655T>C	uc001umd.2	-	c.682A>G	c.(682-684)ATT>GTT	p.I228V	TPTE2_uc009zzk.2_Non-coding_Transcript|TPTE2_uc009zzl.2_Missense_Mutation_p.I117V|TPTE2_uc001ume.2_Missense_Mutation_p.I151V|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	228	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)										0.020305	-40.86681	9.922099	4	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20038655	20038655	16975	13	T	C	C	C	637	49	TPTE2	4	4
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64518664G>T	uc001xgl.2	+	c.8033G>T	c.(8032-8034)GGA>GTA	p.G2678V	SYNE2_uc001xgm.2_Missense_Mutation_p.G2678V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.292683	226.812791	239.546363	96	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64518664	64518664	15967	14	G	T	T	T	533	41	SYNE2	2	2
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31233830G>A	uc001zfh.1	-	c.2177C>T	c.(2176-2178)ACC>ATC	p.T726I	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.T140I|MTMR10_uc001zfg.1_Missense_Mutation_p.T307I|MTMR10_uc010azx.1_Missense_Mutation_p.T478I|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)										0.121212	4.777303	9.41772	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31233830	31233830	10332	15	G	A	A	A	572	44	MTMR10	2	2
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31294527G>C	uc001zfm.2	-	c.4310C>G	c.(4309-4311)TCC>TGC	p.S1437C	TRPM1_uc010azy.2_Missense_Mutation_p.S1344C|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1437	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.246512	160.664425	173.244616	53	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31294527	31294527	17136	15	G	C	C	C	533	41	TRPM1	3	3
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42840384T>C	uc001zqd.1	-	c.143A>G	c.(142-144)AAC>AGC	p.N48S	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.N48S	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48	LRR 1.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)										0.065015	-7.370752	56.08655	21	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42840384	42840384	9388	15	T	C	C	C	780	60	LRRC57	4	4
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32583777C>T	uc002hhy.2	+	c.231C>T	c.(229-231)GAC>GAT	p.D77D		NM_002982	NP_002973	P13500	CCL2_HUMAN	small inducible cytokine A2 precursor	77				Missing: 90% reduction in activity.|Missing: 83% reduction in activity.	angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|protein phosphorylation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			pancreas(1)	1	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)									0.298969	78.732872	82.238817	29	68	KEEP	---	---	---	---	capture		Silent	SNP	32583777	32583777	3016	17	C	T	T	T	233	18	CCL2	2	2
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578263G>A	uc002gim.2	-	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(121)|p.0?(6)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195fs*12(1)|p.R196R(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R196*(P31FUJ-Tumor)|p.R196*(CALU6-Tumor)|p.R196*(HUT78-Tumor)|p.H193fs(59M-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.04717	-12.016532	11.139408	5	101	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7578263	7578263	16923	17	G	A	A	A	506	39	TP53	5	1
RASAL3	64926	broad.mit.edu	37	19	15565635	15565635	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15565635C>A	uc002nbe.2	-	c.1791G>T	c.(1789-1791)GAG>GAT	p.E597D	RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.E85D	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	597	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0												OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.176471	6.116395	7.791948	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15565635	15565635	13526	19	C	A	A	A	311	24	RASAL3	2	2
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19032540T>C	uc002nkq.1	+	c.308T>C	c.(307-309)ATC>ACC	p.I103T	COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_Non-coding_Transcript|DDX49_uc002nks.1_5'UTR|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)											0.251613	112.848513	121.538737	39	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19032540	19032540	4537	19	T	C	C	C	650	50	DDX49	4	4
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19379455C>T	uc002nmd.1	-	c.593G>A	c.(592-594)CGC>CAC	p.R198H	HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane					0			Epithelial(12;0.0151)											0.125	17.561976	34.038652	15	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19379455	19379455	16503	19	C	T	T	T	351	27	TM6SF2	1	1
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936168G>A	uc002nsu.1	+	c.1699G>A	c.(1699-1701)GTG>ATG	p.V567M	ZNF536_uc010edd.1_Missense_Mutation_p.V567M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.092683	8.272465	42.514061	19	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30936168	30936168	18568	19	G	A	A	A	520	40	ZNF536	1	1
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49409050A>C	uc002plb.3	+	c.284A>C	c.(283-285)CAC>CCC	p.H95P	NUCB1_uc002pla.2_Missense_Mutation_p.H95P|NUCB1_uc002plc.2_Missense_Mutation_p.H95P	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	95						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)										0.056911	-6.667699	18.678084	7	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49409050	49409050	11123	19	A	C	C	C	78	6	NUCB1	4	4
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55019211G>A	uc002qgc.2	+	c.176G>A	c.(175-177)CGC>CAC	p.R59H	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.2_Missense_Mutation_p.R59H|LAIR2_uc010erl.2_Missense_Mutation_p.R59H	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like	59	Ig-like C2-type.					extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)										0.231156	106.644011	119.827405	46	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55019211	55019211	8926	19	G	A	A	A	494	38	LAIR2	1	1
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6710828G>A	uc002mfm.2	-	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	503					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)										0.063063	-10.147747	11.922265	7	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6710828	6710828	2296	19	G	A	A	A	494	38	C3	1	1
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9047069G>A	uc002mkp.2	-	c.34562C>T	c.(34561-34563)GCC>GTC	p.A11521V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11523	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.149123	25.792845	39.271059	17	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9047069	9047069	10367	19	G	A	A	A	546	42	MUC16	2	2
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119474252T>C	uc001ehl.1	-	c.91A>G	c.(91-93)AAA>GAA	p.K31E		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	137	T-box.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.055556	-5.999279	12.70189	5	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119474252	119474252	16178	1	T	C	C	C	819	63	TBX15	4	4
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154493861G>C	uc009wow.2	+	c.275G>C	c.(274-276)GGT>GCT	p.G92A	TDRD10_uc001ffd.2_Missense_Mutation_p.G92A|TDRD10_uc001ffe.2_Missense_Mutation_p.G13A	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	92	RRM.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.023148	-86.791236	22.535051	10	422	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154493861	154493861	16257	1	G	C	C	C	572	44	TDRD10	3	3
YRDC	79693	broad.mit.edu	37	1	38269643	38269643	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38269643A>G	uc001cca.1	-	c.794T>C	c.(793-795)CTC>CCC	p.L265P		NM_024640	NP_078916	Q86U90	YRDC_HUMAN	ischemia/reperfusion inducible protein	265					negative regulation of transport	membrane|mitochondrion					0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.027027	-20.177046	7.243619	3	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38269643	38269643	18077	1	A	G	G	G	143	11	YRDC	4	4
KIAA0406	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36640637C>T	uc002xhl.2	-	c.1582G>A	c.(1582-1584)GAA>AAA	p.E528K	KIAA0406_uc002xhm.2_Missense_Mutation_p.E528K	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	528							binding				0		Myeloproliferative disorder(115;0.00874)												0.188034	44.973974	55.639735	22	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36640637	36640637	8480	20	C	T	T	T	377	29	KIAA0406	2	2
CHRNA4	1137	broad.mit.edu	37	20	61981765	61981765	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61981765C>T	uc002yes.2	-	c.998G>A	c.(997-999)CGC>CAC	p.R333H	CHRNA4_uc002yet.1_Missense_Mutation_p.R157H|CHRNA4_uc011aaw.1_Non-coding_Transcript|CHRNA4_uc010gke.1_Missense_Mutation_p.R262H|CHRNA4_uc002yev.1_Missense_Mutation_p.R157H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R157H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	333	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)	1	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)									0.025478	-31.219006	7.92545	4	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61981765	61981765	3519	20	C	T	T	T	351	27	CHRNA4	1	1
KRTAP10-7	386675	broad.mit.edu	37	21	46020608	46020608	+	Silent	SNP	C	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46020608C>G	uc002zfn.3	+	c.87C>G	c.(85-87)TCC>TCG	p.S29S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	29						keratin filament					0														0.05	-6.02028	6.861872	3	57	KEEP	---	---	---	---	capture		Silent	SNP	46020608	46020608	8829	21	C	G	G	G	288	23	KRTAP10-7	3	3
PATZ1	23598	broad.mit.edu	37	22	31741165	31741165	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31741165A>T	uc003akq.2	-	c.424T>A	c.(424-426)TTC>ATC	p.F142I	PATZ1_uc003akp.2_Missense_Mutation_p.F142I|PATZ1_uc003akr.2_Missense_Mutation_p.F142I|PATZ1_uc003aks.2_Missense_Mutation_p.F142I	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2										104				0.021583	-91.792087	14.87001	9	408	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31741165	31741165	11896	22	A	T	T	T	26	2	PATZ1	3	3
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160104993C>G	uc002uaj.3	-	c.1163G>C	c.(1162-1164)AGG>ACG	p.R388T	WDSUB1_uc002uak.3_Missense_Mutation_p.R388T|WDSUB1_uc002ual.3_Missense_Mutation_p.R388T|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.R296T	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	388	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity				0														0.17931	62.058035	76.088909	26	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160104993	160104993	17915	2	C	G	G	G	312	24	WDSUB1	3	3
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207558023G>A	uc002vbr.1	-	c.856C>T	c.(856-858)CTT>TTT	p.L286F		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.247788	73.443533	79.984672	28	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207558023	207558023	5047	2	G	A	A	A	468	36	DYTN	2	2
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167167112G>A	uc003fes.1	-	c.1073C>T	c.(1072-1074)ACA>ATA	p.T358I	SERPINI2_uc003fer.1_Missense_Mutation_p.T348I|SERPINI2_uc003fet.1_Missense_Mutation_p.T348I	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	348					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			urinary_tract(1)	1														0.168675	26.093193	34.725846	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167167112	167167112	14607	3	G	A	A	A	624	48	SERPINI2	2	2
FAM131A	131408	broad.mit.edu	37	3	184062729	184062729	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184062729G>C	uc003fog.2	+	c.979G>C	c.(979-981)GAG>CAG	p.E327Q	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Missense_Mutation_p.E273Q|FAM131A_uc003foe.2_Missense_Mutation_p.E273Q	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	327						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.111111	3.735979	6.427476	2	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184062729	184062729	5636	3	G	C	C	C	585	45	FAM131A	3	3
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47162162G>A	uc003cqv.2	-	c.3931C>T	c.(3931-3933)CGA>TGA	p.R1311*	SETD2_uc003cqs.2_Nonsense_Mutation_p.R1322*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)										0.244444	85.710747	93.7415	33	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47162162	47162162	14620	3	G	A	A	A	480	37	SETD2	5	1
DHX30	22907	broad.mit.edu	37	3	47891480	47891480	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47891480G>T	uc003cru.2	+	c.3455G>T	c.(3454-3456)AGC>ATC	p.S1152I	DHX30_uc003crt.2_Missense_Mutation_p.S1113I	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1152						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)								OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.108108	3.772238	9.406342	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47891480	47891480	4683	3	G	T	T	T	442	34	DHX30	2	2
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52473930C>T	uc003dea.1	-	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	443	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)										0.34965	137.101549	139.956064	50	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52473930	52473930	14516	3	C	T	T	T	351	27	SEMA3G	1	1
SHROOM1	134549	broad.mit.edu	37	5	132158801	132158801	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:132158801A>C	uc003kxx.2	-	c.2246T>G	c.(2245-2247)CTC>CGC	p.L749R	SHROOM1_uc003kxy.1_Missense_Mutation_p.L744R	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	749	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.4	12.69829	12.785656	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132158801	132158801	14788	5	A	C	C	C	143	11	SHROOM1	4	4
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137520631T>C	uc003lcj.2	+	c.1819T>C	c.(1819-1821)TGC>CGC	p.C607R	KIF20A_uc011cyo.1_Missense_Mutation_p.C589R	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	607					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.11	37.577068	82.719289	33	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137520631	137520631	8597	5	T	C	C	C	767	59	KIF20A	4	4
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137906812C>T	uc003ldf.2	-	c.247G>A	c.(247-249)GGT>AGT	p.G83S	HSPA9_uc011cyw.1_Missense_Mutation_p.G14S	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	83					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.091837	6.99623	23.440652	9	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137906812	137906812	7716	5	C	T	T	T	312	24	HSPA9	2	2
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145393551T>C	uc003lnt.2	+	c.986T>C	c.(985-987)ATC>ACC	p.I329T	SH3RF2_uc011dbl.1_Missense_Mutation_p.I329T	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.028424	-71.784462	22.951998	11	376	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145393551	145393551	14751	5	T	C	C	C	650	50	SH3RF2	4	4
PDGFRB	5159	broad.mit.edu	37	5	149503898	149503898	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149503898T>A	uc003lro.2	-	c.1938A>T	c.(1936-1938)CAA>CAT	p.Q646H	PDGFRB_uc010jhd.2_Missense_Mutation_p.Q485H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	646	Cytoplasmic (Potential).|Protein kinase.				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880				0.053191	-10.192234	9.612522	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149503898	149503898	12083	5	T	A	A	A	725	56	PDGFRB	3	3
PDGFRB	5159	broad.mit.edu	37	5	149503902	149503902	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149503902T>G	uc003lro.2	-	c.1934A>C	c.(1933-1935)AAG>ACG	p.K645T	PDGFRB_uc010jhd.2_Missense_Mutation_p.K484T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	645	Cytoplasmic (Potential).|Protein kinase.				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880				0.057471	-5.897299	11.978608	5	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149503902	149503902	12083	5	T	G	G	G	728	56	PDGFRB	4	4
NSD1	64324	broad.mit.edu	37	5	176562833	176562833	+	Silent	SNP	A	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176562833A>G	uc003mfr.3	+	c.729A>G	c.(727-729)GAA>GAG	p.E243E	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Silent_p.E243E|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Silent_p.E243E|NSD1_uc003mfq.2_Silent_p.E243E	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	243					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)						492				0.02439	-23.487894	7.407883	3	120	KEEP	---	---	---	---	capture		Silent	SNP	176562833	176562833	11074	5	A	G	G	G	37	3	NSD1	4	4
ADCY2	108	broad.mit.edu	37	5	7709400	7709400	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7709400G>A	uc003jdz.1	+	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	ADCY2_uc011cmo.1_Missense_Mutation_p.R313H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	493	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.045872	-15.107156	8.890118	5	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7709400	7709400	295	5	G	A	A	A	494	38	ADCY2	1	1
HIST1H2BK	85236	broad.mit.edu	37	6	27114410	27114410	+	Silent	SNP	G	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27114410G>C	uc003nix.1	-	c.168C>G	c.(166-168)TCC>TCG	p.S56S	HIST1H2AH_uc003niz.2_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0										6				0.017442	-120.321235	15.331423	9	507	KEEP	---	---	---	---	capture		Silent	SNP	27114410	27114410	7435	6	G	C	C	C	444	35	HIST1H2BK	3	3
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52870089A>T	uc003pbh.2	-	c.1757T>A	c.(1756-1758)CTG>CAG	p.L586Q	ICK_uc003pbi.2_Missense_Mutation_p.L586Q	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	586					intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)									283				0.207547	49.075795	57.494629	22	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52870089	52870089	7784	6	A	T	T	T	91	7	ICK	3	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs113488022		TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140453136A>T	uc003vwc.3	-	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15573)|p.V600?(188)|p.V600K(165)|p.V600R(36)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_R603>I(2)|p.V600_W604del(1)|p.V600L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insT(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451				0.222973	85.500103	95.941656	33	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140453136	140453136	1527	7	A	T	T	T	78	6	BRAF	3	3
SNX8	29886	broad.mit.edu	37	7	2296523	2296523	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2296523G>T	uc003slw.2	-	c.1270C>A	c.(1270-1272)CAA>AAA	p.Q424K		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	424					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)										0.055556	-4.615195	6.602561	3	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2296523	2296523	15408	7	G	T	T	T	611	47	SNX8	2	2
POM121C	100101267	broad.mit.edu	37	7	75050948	75050948	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75050948C>T	uc003udk.3	-	c.2587G>A	c.(2587-2589)GGA>AGA	p.G863R		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1105	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0														0.132075	11.091349	18.058624	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75050948	75050948	12668	7	C	T	T	T	299	23	POM121C	1	1
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92734750G>A	uc003umf.2	-	c.661C>T	c.(661-663)CGA>TGA	p.R221*	SAMD9_uc003umg.2_Nonsense_Mutation_p.R221*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.081272	6.211986	56.743566	23	260	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92734750	92734750	14306	7	G	A	A	A	506	39	SAMD9	5	1
USP17L2	377630	broad.mit.edu	37	8	11995391	11995391	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11995391C>G	uc003wvc.1	-	c.879G>C	c.(877-879)AAG>AAC	p.K293N	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	293					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.021053	-40.078989	8.687289	4	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11995391	11995391	17611	8	C	G	G	G	415	32	USP17L2	3	3
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117568153A>C	uc004bjh.2	-	c.140T>G	c.(139-141)CTT>CGT	p.L47R		NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	47	Helical; Signal-anchor for type II membrane protein; (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0														0.216049	90.838949	102.888013	35	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117568153	117568153	16849	9	A	C	C	C	39	3	TNFSF15	4	4
OLFML2A	169611	broad.mit.edu	37	9	127561738	127561738	+	Missense_Mutation	SNP	A	C	C	rs76849657	byFrequency;by1000genomes	TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127561738A>C	uc004bov.2	+	c.637A>C	c.(637-639)ACC>CCC	p.T213P	OLFML2A_uc010mwr.1_Missense_Mutation_p.T177P|OLFML2A_uc004bow.2_5'Flank	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	213											0														0.428571	6.616129	6.648438	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127561738	127561738	11262	9	A	C	C	C	78	6	OLFML2A	4	4
NUP188	23511	broad.mit.edu	37	9	131741553	131741553	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131741553A>G	uc004bws.1	+	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	406					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.044715	-24.077682	30.438471	11	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131741553	131741553	11163	9	A	G	G	G	182	14	NUP188	4	4
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	A	A			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2933387G>A	uc011mhj.1	+	c.717G>A	c.(715-717)GAG>GAA	p.E239E		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)												0.365385	55.894438	56.729498	19	33	KEEP	---	---	---	---	capture		Silent	SNP	2933387	2933387	1011	23	G	A	A	A	425	33	ARSH	2	2
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-			TCGA-44-2666-01	TCGA-44-2666-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131241030_131241035delGGCGAC	uc003vqw.3	-	c.84_89delGTCGCC	c.(82-90)CCGTCGCCC>CCC	p.28_30PSP>P	PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	28_30	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)													0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	131241030	131241035	12608	7	GGCGAC	-	-	-	559	43	PODXL	5	5
