Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
KIAA1598	57698	broad.mit.edu	36	10	118679495	118679495	+	Missense_Mutation	SNP	T	A	A			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118679495T>A	uc001lcx.2	-	c.867A>T	c.(865-867)GAA>GAT	p.E289D	KIAA1598_uc009xyw.1_Missense_Mutation_p.E289D|KIAA1598_uc001lcz.2_Missense_Mutation_p.E289D|KIAA1598_uc001lcy.2_Missense_Mutation_p.E259D	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	shootin1 isoform b	289	Potential.				axon guidance	axon					0														0.25	32.650117	35.604507	13	39	TT		KEEP	---	---	---	---	capture		all cancers(201;0.00494)	Missense_Mutation	SNP	118679495	118679495	8555	10	T	A	A	52	52	KIAA1598	A	4	4
ITGA8	8516	broad.mit.edu	36	10	15630508	15630508	+	Silent	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15630508G>A	uc001ioc.1	-	c.2832C>T	c.(2830-2832)AGC>AGT	p.S944S		NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	944	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.294118	25.635368	26.926033	10	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	15630508	15630508	8186	10	G	A	A	38	38	ITGA8	A	1	1
PLCE1	51196	broad.mit.edu	36	10	95781384	95781384	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95781384G>A	uc001kjk.1	+	c.591G>A	c.(589-591)ATG>ATA	p.M197I		NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	197					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.257143	43.21404	46.959081	18	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95781384	95781384	12460	10	G	A	A	48	48	PLCE1	A	2	2
OR5D16	390144	broad.mit.edu	36	11	55363169	55363169	+	Nonsense_Mutation	SNP	T	A	A			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55363169T>A	uc001nhz.1	+	c.366T>A	c.(364-366)TAT>TAA	p.Y122*		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.177083	38.718547	48.146254	17	79	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55363169	55363169	11566	11	T	A	A	51	51	OR5D16	A	5	4
RPS3	6188	broad.mit.edu	36	11	74793524	74793524	+	Silent	SNP	G	C	C			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74793524G>C	uc001owh.1	+	c.699G>C	c.(697-699)CCG>CCC	p.P233P	RPS3_uc001owi.1_Silent_p.P233P|RPS3_uc001owk.1_Silent_p.P107P	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	233				P -> L (in Ref. 1; CAA39248).	activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0														0.307692	11.676354	12.545659	8	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	74793524	74793524	14123	11	G	C	C	38	38	RPS3	C	3	3
NOS1	4842	broad.mit.edu	36	12	116208326	116208326	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116208326C>T	uc001twm.1	-	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	419					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.183673	18.856982	23.449538	9	40	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0561)	Missense_Mutation	SNP	116208326	116208326	10944	12	C	T	T	27	27	NOS1	T	1	1
LRRIQ1	84125	broad.mit.edu	36	12	83991008	83991008	+	Splice_Site_SNP	SNP	G	T	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:83991008G>T	uc001tac.1	+	c.2887_splice	c.e11+1	p.C963_splice	LRRIQ1_uc001tab.1_Splice_Site_SNP_p.C963_splice	NM_001079910	NP_001073379			leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)	5														0.177778	16.967707	21.374329	8	37	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.212)	Splice_Site_SNP	SNP	83991008	83991008	9405	12	G	T	T	48	48	LRRIQ1	T	5	3
POC1B	282809	broad.mit.edu	36	12	88389536	88389536	+	Missense_Mutation	SNP	A	C	C			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:88389536A>C	uc001tbc.1	-	c.662T>G	c.(661-663)CTA>CGA	p.L221R	POC1B_uc009zsp.1_Non-coding_Transcript|POC1B_uc009zsq.1_Intron|POC1B_uc001tba.1_Missense_Mutation_p.L179R|POC1B_uc001tbb.1_Missense_Mutation_p.L91R	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN	WD repeat domain 51B	221	WD 5.				cell projection organization	centriole|microtubule basal body				ovary(1)	1														0.287671	61.644301	64.598831	21	52	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88389536	88389536	12604	12	A	C	C	15	15	POC1B	C	4	4
RB1	5925	broad.mit.edu	36	13	47937380	47937380	+	Silent	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47937380C>T	uc001vcb.1	+	c.2364C>T	c.(2362-2364)AGC>AGT	p.S788S		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	788	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding			lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.278351	72.927218	77.187726	27	70	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Silent	SNP	47937380	47937380	13559	13	C	T	T	26	26	RB1	T	2	2
C13orf34	79866	broad.mit.edu	36	13	72219202	72219202	+	Silent	SNP	A	G	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:72219202A>G	uc010aen.1	+	c.1659A>G	c.(1657-1659)TCA>TCG	p.S553S	C13orf34_uc001viv.1_Silent_p.S478S|C13orf34_uc001viw.1_Silent_p.S427S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	478					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)												0.304348	137.717705	143.214843	49	112	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000227)	Silent	SNP	72219202	72219202	1775	13	A	G	G	6	6	C13orf34	G	4	4
MAPK3	5595	broad.mit.edu	36	16	30035555	30035555	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30035555G>A	uc002dws.1	-	c.1075C>T	c.(1075-1077)CGG>TGG	p.R359W	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|MAPK3_uc002dwr.1_Missense_Mutation_p.R245W|MAPK3_uc002dwt.1_3'UTR|MAPK3_uc002dwv.2_Missense_Mutation_p.R315W|MAPK3_uc002dwu.1_Non-coding_Transcript|MAPK3_uc010bzp.1_Non-coding_Transcript	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	359					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)					91				0.25	30.703356	33.622843	13	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30035555	30035555	9662	16	G	A	A	38	38	MAPK3	A	1	1
C17orf71	55181	broad.mit.edu	36	17	54642203	54642203	+	Silent	SNP	T	G	G			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54642203T>G	uc002ixi.1	+	c.9T>G	c.(7-9)GGT>GGG	p.G3G		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	hypothetical protein LOC55181	3					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			ovary(3)	3	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)													0.333333	7.964943	8.388445	5	10	TT		KEEP	---	---	---	---	capture			Silent	SNP	54642203	54642203	1935	17	T	G	G	58	58	C17orf71	G	4	4
BPTF	2186	broad.mit.edu	36	17	63355118	63355118	+	Silent	SNP	A	G	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63355118A>G	uc002jgf.1	+	c.5937A>G	c.(5935-5937)CAA>CAG	p.Q1979Q	BPTF_uc002jge.1_Silent_p.Q2105Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2105					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.297872	45.533373	47.248813	14	33	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Silent	SNP	63355118	63355118	1523	17	A	G	G	2	2	BPTF	G	4	4
TP53	7157	broad.mit.edu	36	17	7518276	7518276	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518276C>T	uc002gim.2	-	c.730G>A	c.(730-732)GGC>AGC	p.G244S	TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.1_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	244	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and 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.G244S(35)|p.G244C(32)|p.0?(6)|p.G244fs*3(4)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.G244C(NCIH1836-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.277778	27.533154	29.133604	10	26	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518276	7518276	16923	17	C	T	T	22	22	TP53	T	2	2
CASP14	23581	broad.mit.edu	36	19	15025396	15025396	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15025396G>T	uc010dzv.1	+	c.131G>T	c.(130-132)CGG>CTG	p.R44L	CASP14_uc002naf.2_Missense_Mutation_p.R44L	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			ovary(1)|lung(1)	2														0.244186	54.936317	60.061526	21	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15025396	15025396	2789	19	G	T	T	39	39	CASP14	T	3	3
SBSN	374897	broad.mit.edu	36	19	40710814	40710814	+	Silent	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40710814G>A	uc002oad.1	-	c.210C>T	c.(208-210)AAC>AAT	p.N70N	SBSN_uc002oae.1_Silent_p.N70N	NM_198538		Q6UWP8	SBSN_HUMAN	suprabasin	70	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)													0.102362	7.722597	27.752735	13	114	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Silent	SNP	40710814	40710814	14345	19	G	A	A	40	40	SBSN	A	1	1
PPFIA3	8541	broad.mit.edu	36	19	54343166	54343166	+	Silent	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54343166C>T	uc002pmr.1	+	c.2850C>T	c.(2848-2850)GGC>GGT	p.G950G	PPFIA3_uc002pms.2_Silent_p.G809G|PPFIA3_uc002pmt.1_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	950						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)												0.210526	15.876284	18.826725	8	30	CC		KEEP	---	---	---	---	capture		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	Silent	SNP	54343166	54343166	12741	19	C	T	T	27	27	PPFIA3	T	1	1
TMEM146	257062	broad.mit.edu	36	19	5690352	5690352	+	Missense_Mutation	SNP	G	C	C			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5690352G>C	uc002mda.1	+	c.475G>C	c.(475-477)GTT>CTT	p.V159L	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146	159	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.240741	34.147261	37.460181	13	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5690352	5690352	16592	19	G	C	C	44	44	TMEM146	C	3	3
MUC16	94025	broad.mit.edu	36	19	8910260	8910260	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8910260G>A	uc002mkp.1	-	c.32371C>T	c.(32371-32373)CGG>TGG	p.R10791W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10793	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														0.157895	25.459637	36.073019	15	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8910260	8910260	10367	19	G	A	A	40	40	MUC16	A	1	1
HCN3	57657	broad.mit.edu	36	1	153521052	153521052	+	Silent	SNP	C	G	G			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153521052C>G	uc001fjz.1	+	c.969C>G	c.(967-969)CCC>CCG	p.P323P		NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	323	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)													0.290323	22.662077	23.88367	9	22	CC		KEEP	---	---	---	---	capture	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Silent	SNP	153521052	153521052	7280	1	C	G	G	23	23	HCN3	G	3	3
CD1B	910	broad.mit.edu	36	1	156567460	156567460	+	Silent	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156567460G>A	uc001frx.1	-	c.78C>T	c.(76-78)ACC>ACT	p.T26T	CD1B_uc001frw.1_5'UTR	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	26	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.212264	111.034677	127.210459	45	167	GG		KEEP	---	---	---	---	capture			Silent	SNP	156567460	156567460	3102	1	G	A	A	35	35	CD1B	A	2	2
FCER1A	2205	broad.mit.edu	36	1	157542410	157542410	+	Missense_Mutation	SNP	C	G	G			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157542410C>G	uc001ftq.1	+	c.340C>G	c.(340-342)CTC>GTC	p.L114V		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	114	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)									0.3125	11.944668	13.066219	10	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157542410	157542410	6011	1	C	G	G	28	28	FCER1A	G	3	3
VSIG8	391123	broad.mit.edu	36	1	158094613	158094613	+	Nonsense_Mutation	SNP	G	C	C			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158094613G>C	uc001fuh.1	-	c.321C>G	c.(319-321)TAC>TAG	p.Y107*	C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	107	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)													0.116667	11.08699	19.755362	7	53	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	158094613	158094613	17794	1	G	C	C	40	40	VSIG8	C	5	3
LAMC2	3918	broad.mit.edu	36	1	181474173	181474173	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181474173C>T	uc001gqa.2	+	c.2863C>T	c.(2863-2865)CTC>TTC	p.L955F	LAMC2_uc001gpz.2_Missense_Mutation_p.L955F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	955	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.285714	35.282179	37.013049	12	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	181474173	181474173	8938	1	C	T	T	24	24	LAMC2	T	2	2
MPL	4352	broad.mit.edu	36	1	43577685	43577685	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43577685C>T	uc001ciw.1	+	c.548C>T	c.(547-549)ACG>ATG	p.T183M	MPL_uc001civ.2_Missense_Mutation_p.T183M|MPL_uc009vwr.1_Missense_Mutation_p.T176M	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	183	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(359)|pancreas(1)	360	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				NSCLC(52;534 1204 10016 41452 44427)				169				0.12	6.91612	13.998731	6	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43577685	43577685	10122	1	C	T	T	19	19	MPL	T	1	1
ST6GALNAC3	256435	broad.mit.edu	36	1	76866911	76866911	+	Missense_Mutation	SNP	A	T	T			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76866911A>T	uc001dhh.1	+	c.750A>T	c.(748-750)AAA>AAT	p.K250N		NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	ST6	250	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.134615	11.103165	17.822392	7	45	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76866911	76866911	15743	1	A	T	T	3	3	ST6GALNAC3	T	4	4
SLC45A1	50651	broad.mit.edu	36	1	8318140	8318140	+	Silent	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:8318140C>T	uc001apb.1	+	c.1500C>T	c.(1498-1500)AGC>AGT	p.S500S	SLC45A1_uc001apc.1_Silent_p.S198S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	500					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)	3	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)												0.1875	16.962487	21.341487	9	39	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	8318140	8318140	15137	1	C	T	T	27	27	SLC45A1	T	1	1
PDYN	5173	broad.mit.edu	36	20	1909151	1909151	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1909151C>T	uc010gaj.1	-	c.583G>A	c.(583-585)GGG>AGG	p.G195R	PDYN_uc002wfv.1_Missense_Mutation_p.G195R	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.202381	35.331262	42.243183	17	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1909151	1909151	12120	20	C	T	T	23	23	PDYN	T	1	1
RALGAPA2	57186	broad.mit.edu	36	20	20441649	20441649	+	Missense_Mutation	SNP	G	C	C			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:20441649G>C	uc002wrz.1	-	c.4364C>G	c.(4363-4365)TCT>TGT	p.S1455C	RALGAPA2_uc010gcx.1_Missense_Mutation_p.S1159C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1455					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1														0.235294	11.191633	12.280711	4	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20441649	20441649	13474	20	G	C	C	33	33	RALGAPA2	C	3	3
FERMT1	55612	broad.mit.edu	36	20	6005898	6005898	+	Silent	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:6005898G>A	uc002wmr.1	-	c.1956C>T	c.(1954-1956)TTC>TTT	p.F652F	FERMT1_uc010gbt.1_Silent_p.F395F|FERMT1_uc002wmq.1_Silent_p.F205F	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	652	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)	2												OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	7.472955	9.40975	8	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	6005898	6005898	6054	20	G	A	A	33	33	FERMT1	A	2	2
LAMA5	3911	broad.mit.edu	36	20	60344872	60344872	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60344872C>T	uc002ycq.1	-	c.2242G>A	c.(2242-2244)GCT>ACT	p.A748T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	748	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.14	9.600009	15.880374	7	43	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Missense_Mutation	SNP	60344872	60344872	8932	20	C	T	T	26	26	LAMA5	T	2	2
APOBEC3F	200316	broad.mit.edu	36	22	37778046	37778046	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37778046C>A	uc003aww.1	+	c.745C>A	c.(745-747)CAT>AAT	p.H249N	APOBEC3F_uc010gxv.1_Missense_Mutation_p.H66N	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	257		Zinc (By similarity).		H->A: Decreases cytidine deaminase activity.	base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)													0.206349	59.591748	69.655042	26	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37778046	37778046	804	22	C	A	A	29	29	APOBEC3F	A	3	3
RUFY4	285180	broad.mit.edu	36	2	218648511	218648511	+	Silent	SNP	A	C	C			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218648511A>C	uc002vgw.2	+	c.532A>C	c.(532-534)AGA>CGA	p.R178R	RUFY4_uc002vgy.1_Non-coding_Transcript|RUFY4_uc010fvl.1_Silent_p.R178R	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	351							zinc ion binding			pancreas(1)	1		Renal(207;0.0915)												0.2	6.401974	8.068288	4	16	AA		KEEP	---	---	---	---	capture		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Silent	SNP	218648511	218648511	14221	2	A	C	C	7	7	RUFY4	C	4	4
VIL1	7429	broad.mit.edu	36	2	219010121	219010121	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219010121G>A	uc002via.1	+	c.2002G>A	c.(2002-2004)GAG>AAG	p.E668K	VIL1_uc002vib.1_Missense_Mutation_p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	668	Gelsolin-like 6.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)												0.235294	38.464288	42.823677	16	52	GG		KEEP	---	---	---	---	capture		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219010121	219010121	17731	2	G	A	A	37	37	VIL1	A	1	1
ACTG2	72	broad.mit.edu	36	2	73994219	73994219	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73994219G>A	uc002sjw.1	+	c.551G>A	c.(550-552)CGT>CAT	p.R184H	ACTG2_uc010fey.1_Missense_Mutation_p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	184					muscle contraction	cytoskeleton|cytosol	ATP binding				0														0.303571	43.44617	45.380231	17	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73994219	73994219	198	2	G	A	A	40	40	ACTG2	A	1	1
SLC15A2	6565	broad.mit.edu	36	3	123124382	123124382	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123124382C>T	uc003eep.1	+	c.851C>T	c.(850-852)GCG>GTG	p.A284V		NM_021082	NP_066568	Q16348	S15A2_HUMAN	solute carrier family 15 (H+/peptide	284					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding				0					Cefadroxil(DB01140)									0.208333	11.662736	13.552699	5	19	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0967)	Missense_Mutation	SNP	123124382	123124382	14894	3	C	T	T	27	27	SLC15A2	T	1	1
ILDR1	286676	broad.mit.edu	36	3	123194835	123194835	+	Missense_Mutation	SNP	T	G	G			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123194835T>G	uc003ees.1	-	c.1451A>C	c.(1450-1452)GAC>GCC	p.D484A	ILDR1_uc003eeq.1_Missense_Mutation_p.D452A|ILDR1_uc003eer.1_Missense_Mutation_p.D440A|ILDR1_uc010hrg.1_Missense_Mutation_p.D395A	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	484	Cytoplasmic (Potential).					cytosol|integral to membrane|plasma membrane	receptor activity				0														0.238095	14.464998	15.780218	5	16	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.156)	Missense_Mutation	SNP	123194835	123194835	8010	3	T	G	G	58	58	ILDR1	G	4	4
COL7A1	1294	broad.mit.edu	36	3	48601792	48601792	+	Silent	SNP	C	G	G			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48601792C>G	uc003ctz.2	-	c.2286G>C	c.(2284-2286)GGG>GGC	p.G762G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	762	Nonhelical region (NC1).|Fibronectin type-III 6.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9														0.166667	7.256249	9.728493	4	20	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Silent	SNP	48601792	48601792	3842	3	C	G	G	26	26	COL7A1	G	3	3
ANKRD50	57182	broad.mit.edu	36	4	125811284	125811284	+	Silent	SNP	A	G	G			TCGA-76-6193-01	TCGA-76-6193-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:125811284A>G	uc003ifg.2	-	c.2598T>C	c.(2596-2598)CTT>CTC	p.L866L	ANKRD50_uc010inw.1_Silent_p.L866L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	866	ANK 12.									central_nervous_system(1)	1														0.205128	61.935304	71.372307	24	93	AA		KEEP	---	---	---	---	capture			Silent	SNP	125811284	125811284	685	4	A	G	G	13	13	ANKRD50	G	4	4
N4BP2	55728	broad.mit.edu	36	4	39804242	39804242	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:39804242C>T	uc003guy.2	+	c.4424C>T	c.(4423-4425)TCT>TTT	p.S1475F	N4BP2_uc010ifq.1_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.1_Missense_Mutation_p.S1395F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1475						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.220779	44.433172	49.959327	17	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39804242	39804242	10505	4	C	T	T	32	32	N4BP2	T	2	2
NAA11	84779	broad.mit.edu	36	4	80465578	80465578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80465578G>A	uc003hlt.2	-	c.478C>T	c.(478-480)CGA>TGA	p.R160*		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	ARD1 homolog B protein	160						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2														0.193548	12.033788	14.75021	6	25	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	80465578	80465578	10512	4	G	A	A	40	40	NAA11	A	5	1
ATG12	9140	broad.mit.edu	36	5	115205133	115205133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:115205133G>A	uc003krh.1	-	c.157C>T	c.(157-159)CAG>TAG	p.Q53*	AP3S1_uc003krl.1_5'Flank|AP3S1_uc003krk.1_5'Flank|AP3S1_uc003krm.1_5'Flank|ATG12_uc003kri.1_Nonsense_Mutation_p.Q53*|ATG12_uc003krj.1_Non-coding_Transcript	NM_004707	NP_004698	O94817	ATG12_HUMAN	APG12 autophagy 12-like	6					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)												0.134831	15.73877	27.248327	12	77	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	Nonsense_Mutation	SNP	115205133	115205133	1109	5	G	A	A	46	46	ATG12	A	5	2
ZUFSP	221302	broad.mit.edu	36	6	117094589	117094589	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117094589G>T	uc003pxf.1	-	c.460C>A	c.(460-462)CCT>ACT	p.P154T	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	154	C2H2-type 2.					intracellular	zinc ion binding				0														0.241935	36.593321	40.35971	15	47	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	Missense_Mutation	SNP	117094589	117094589	18851	6	G	T	T	41	41	ZUFSP	T	3	3
LAMA2	3908	broad.mit.edu	36	6	129615112	129615112	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129615112T>C	uc003qbn.1	+	c.2075T>C	c.(2074-2076)TTT>TCT	p.F692S	LAMA2_uc003qbo.1_Missense_Mutation_p.F692S|LAMA2_uc010kfe.1_Missense_Mutation_p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	692	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.140351	17.792129	24.88262	8	49	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129615112	129615112	8929	6	T	C	C	64	64	LAMA2	C	4	4
PLXNA4	91584	broad.mit.edu	36	7	131633456	131633456	+	Silent	SNP	G	T	T			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131633456G>T	uc003vra.2	-	c.1437C>A	c.(1435-1437)GGC>GGA	p.G479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	479	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.22807	28.542008	32.413154	13	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	131633456	131633456	12548	7	G	T	T	42	42	PLXNA4	T	3	3
DLGAP2	9228	broad.mit.edu	36	8	1562395	1562395	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1562395C>T	uc003wpl.1	+	c.1285C>T	c.(1285-1287)CGC>TGC	p.R429C	DLGAP2_uc003wpm.1_Missense_Mutation_p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	508					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)												0.230769	7.218309	8.081845	3	10	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	Missense_Mutation	SNP	1562395	1562395	4740	8	C	T	T	23	23	DLGAP2	T	1	1
MPDZ	8777	broad.mit.edu	36	9	13152794	13152794	+	Silent	SNP	T	C	C			TCGA-76-6193-01	TCGA-76-6193-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:13152794T>C	uc010mhy.1	-	c.3255A>G	c.(3253-3255)AAA>AAG	p.K1085K	MPDZ_uc010mhx.1_5'UTR|MPDZ_uc003zkz.2_Intron|MPDZ_uc010mhz.1_Silent_p.K1085K|MPDZ_uc003zlb.2_Silent_p.K1085K|MPDZ_uc010mia.1_Silent_p.K1085K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1085	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6														0.277778	29.835682	31.434479	10	26	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.03e-06)	Silent	SNP	13152794	13152794	10114	9	T	C	C	62	62	MPDZ	C	4	4
DCAF12L1	139170	broad.mit.edu	36	X	125513269	125513269	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6193-01	TCGA-76-6193-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125513269C>T	uc004eul.1	-	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	DCAF12L1_uc010nqz.1_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	335										skin(3)	3														0.552632	62.575851	62.667353	21	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125513269	125513269	4435	23	C	T	T	27	27	DCAF12L1	T	1	1
IGBP1	3476	broad.mit.edu	36	X	69283288	69283288	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6193-01	TCGA-76-6193-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69283288G>A	uc004dxv.1	+	c.563G>A	c.(562-564)CGT>CAT	p.R188H	IGBP1_uc004dxw.1_Missense_Mutation_p.R188H	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	188					B cell activation|negative regulation of caspase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						NSCLC(167;1189 1558 6576 8216 30387 37980 41450)								0.222222	13.935579	15.852245	6	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69283288	69283288	7868	23	G	A	A	40	40	IGBP1	A	1	1
GATA5	140628	broad.mit.edu	36	20	60474890	60474890	+	Frame_Shift_Del	DEL	A	-	-			TCGA-76-6193-01	TCGA-76-6193-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60474890_60474890delA	uc002ycx.1	-	c.812_812delT	c.(811-813)ATGfs	p.M271fs		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	271					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	promoter binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)											0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	60474890	60474890	6521	20	A	-	-	8	8	GATA5	-	5	5
