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
ENTPD7	57089	broad.mit.edu	37	10	101458472	101458472	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101458472G>C	uc009xwl.2	+	c.1198G>C	c.(1198-1200)GCC>CCC	p.A400P	ENTPD7_uc001kqa.3_Missense_Mutation_p.A398P	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	398	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)										0.15	9.033077	13.76483	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101458472	101458472	5337	10	G	C	C	C	546	42	ENTPD7	3	3
AFAP1L2	84632	broad.mit.edu	37	10	116056837	116056837	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116056837G>A	uc010qse.1	-	c.2489C>T	c.(2488-2490)TCT>TTT	p.S830F	AFAP1L2_uc001lbn.2_Missense_Mutation_p.S777F|AFAP1L2_uc001lbo.2_Missense_Mutation_p.S773F|AFAP1L2_uc001lbp.2_Missense_Mutation_p.S801F|AFAP1L2_uc001lbm.2_Missense_Mutation_p.S216F|AFAP1L2_uc010qsd.1_Missense_Mutation_p.S339F|AFAP1L2_uc001lbq.1_Missense_Mutation_p.S299F	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	777					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)										0.285714	25.233848	26.677491	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116056837	116056837	356	10	G	A	A	A	429	33	AFAP1L2	2	2
PNLIPRP3	119548	broad.mit.edu	37	10	118231353	118231353	+	Silent	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118231353C>A	uc001lcl.3	+	c.1134C>A	c.(1132-1134)GGC>GGA	p.G378G		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	378	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.311688	73.580786	76.007101	24	53	KEEP	---	---	---	---	capture		Silent	SNP	118231353	118231353	12578	10	C	A	A	A	340	27	PNLIPRP3	1	1
HSPA12A	259217	broad.mit.edu	37	10	118451919	118451919	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118451919C>T	uc001lct.2	-	c.606G>A	c.(604-606)ACG>ACA	p.T202T	HSPA12A_uc001lcu.2_Silent_p.T119T	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	202							ATP binding			ovary(1)	1				all cancers(201;0.0158)										0.256757	100.743112	108.642733	38	110	KEEP	---	---	---	---	capture		Silent	SNP	118451919	118451919	7703	10	C	T	T	T	288	23	HSPA12A	1	1
DPYSL4	10570	broad.mit.edu	37	10	134015457	134015457	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134015457G>A	uc009ybb.2	+	c.1118G>A	c.(1117-1119)GGG>GAG	p.G373E		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	373					axon guidance	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)										0.14	12.196477	18.449152	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134015457	134015457	4933	10	G	A	A	A	559	43	DPYSL4	2	2
ITGA8	8516	broad.mit.edu	37	10	15689005	15689005	+	Silent	SNP	T	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15689005T>C	uc001ioc.1	-	c.1047A>G	c.(1045-1047)GAA>GAG	p.E349E	ITGA8_uc010qcb.1_Silent_p.E334E	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	349	Extracellular (Potential).|FG-GAP 5.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.322581	59.878231	61.61117	20	42	KEEP	---	---	---	---	capture		Silent	SNP	15689005	15689005	8186	10	T	C	C	C	673	52	ITGA8	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37506654	37506654	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37506654A>G	uc001iza.1	+	c.2947A>G	c.(2947-2949)AGA>GGA	p.R983G		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1039	Potential.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.2	21.955019	25.718016	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37506654	37506654	663	10	A	G	G	G	36	3	ANKRD30A	4	4
CDH23	64072	broad.mit.edu	37	10	73569657	73569657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73569657C>T	uc001jrx.3	+	c.8803C>T	c.(8803-8805)CGA>TGA	p.R2935*	CDH23_uc001jsg.3_Nonsense_Mutation_p.R695*|CDH23_uc001jsh.3_Nonsense_Mutation_p.R695*|CDH23_uc001jsi.3_Nonsense_Mutation_p.R695*|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2935	Cadherin 27.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.1875	36.240249	44.994925	18	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73569657	73569657	3237	10	C	T	T	T	295	23	CDH23	5	1
NRG3	10718	broad.mit.edu	37	10	84738738	84738738	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:84738738G>C	uc001kco.2	+	c.1445G>C	c.(1444-1446)AGA>ACA	p.R482T	NRG3_uc010qlz.1_Missense_Mutation_p.R481T|NRG3_uc001kcp.2_Missense_Mutation_p.R261T|NRG3_uc001kcq.2_Missense_Mutation_p.R132T|NRG3_uc001kcr.2_Missense_Mutation_p.R132T	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	482	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)										0.16	6.380692	9.138819	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84738738	84738738	11054	10	G	C	C	C	429	33	NRG3	3	3
LDB3	11155	broad.mit.edu	37	10	88441312	88441312	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88441312C>T	uc010qmm.1	+	c.441C>T	c.(439-441)TCC>TCT	p.S147S	LDB3_uc010qml.1_Silent_p.S147S|LDB3_uc001kdu.2_Intron|LDB3_uc001kdv.2_Silent_p.S147S|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.S147S|LDB3_uc001kds.2_Silent_p.S147S|LDB3_uc001kdt.2_Non-coding_Transcript	NM_001080114	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 2	147						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.225	21.75648	24.533887	9	31	KEEP	---	---	---	---	capture		Silent	SNP	88441312	88441312	9021	10	C	T	T	T	275	22	LDB3	2	2
SORBS1	10580	broad.mit.edu	37	10	97081774	97081774	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97081774G>A	uc001kkp.2	-	c.3644C>T	c.(3643-3645)CCT>CTT	p.P1215L	SORBS1_uc001kkk.2_Missense_Mutation_p.P471L|SORBS1_uc001kkl.2_Missense_Mutation_p.P559L|SORBS1_uc001kkn.2_Missense_Mutation_p.P722L|SORBS1_uc001kkm.2_Missense_Mutation_p.P757L|SORBS1_uc001kko.2_Missense_Mutation_p.P1074L|SORBS1_uc001kkq.2_Missense_Mutation_p.P828L|SORBS1_uc001kkr.2_Missense_Mutation_p.P663L|SORBS1_uc001kks.2_Missense_Mutation_p.P607L|SORBS1_uc001kkt.2_Non-coding_Transcript|SORBS1_uc001kku.2_Missense_Mutation_p.P704L|SORBS1_uc001kkv.2_Missense_Mutation_p.P739L|SORBS1_uc001kkw.2_Missense_Mutation_p.P1189L|SORBS1_uc010qoe.1_Missense_Mutation_p.P672L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1215					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)										0.292683	68.460162	71.621153	24	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97081774	97081774	15427	10	G	A	A	A	455	35	SORBS1	2	2
SLIT1	6585	broad.mit.edu	37	10	98799806	98799806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98799806G>A	uc001kmw.2	-	c.2236C>T	c.(2236-2238)CGA>TGA	p.R746*	SLIT1_uc009xvh.1_Nonsense_Mutation_p.R756*	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	746	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.375	27.670106	27.998833	9	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	98799806	98799806	15237	10	G	A	A	A	506	39	SLIT1	5	1
ASAM	79827	broad.mit.edu	37	11	122953875	122953875	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122953875G>A	uc001pyt.2	-	c.597C>T	c.(595-597)ACC>ACT	p.T199T		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	199	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)										0.388889	83.860382	84.645744	28	44	KEEP	---	---	---	---	capture		Silent	SNP	122953875	122953875	1027	11	G	A	A	A	600	47	ASAM	2	2
PIK3C2A	5286	broad.mit.edu	37	11	17124380	17124380	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17124380T>A	uc001mmq.3	-	c.3682_splice	c.e23-1	p.A1228_splice	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Splice_Site_SNP_p.A848_splice|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636			phosphoinositide-3-kinase, class 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|lung(2)|ovary(1)	7					Phosphatidylserine(DB00144)					733				0.232558	26.362315	29.154428	10	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	17124380	17124380	12333	11	T	A	A	A	689	53	PIK3C2A	5	3
SLC17A6	57084	broad.mit.edu	37	11	22364898	22364898	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22364898C>T	uc001mqk.2	+	c.445C>T	c.(445-447)CTG>TTG	p.L149L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	149	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.301587	52.503034	54.716771	19	44	KEEP	---	---	---	---	capture		Silent	SNP	22364898	22364898	14917	11	C	T	T	T	363	28	SLC17A6	2	2
LGR4	55366	broad.mit.edu	37	11	27390166	27390166	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27390166G>C	uc001mrj.3	-	c.2104C>G	c.(2104-2106)CCA>GCA	p.P702A	LGR4_uc001mrk.3_Missense_Mutation_p.P678A	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	702	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1														0.333333	67.932663	69.607015	22	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27390166	27390166	9082	11	G	C	C	C	546	42	LGR4	3	3
KCNA4	3739	broad.mit.edu	37	11	30033077	30033077	+	Silent	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30033077G>T	uc001msk.2	-	c.1149C>A	c.(1147-1149)TCC>TCA	p.S383S		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	383	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.369231	69.380098	70.357953	24	41	KEEP	---	---	---	---	capture		Silent	SNP	30033077	30033077	8310	11	G	T	T	T	444	35	KCNA4	2	2
OR5M10	390167	broad.mit.edu	37	11	56344632	56344632	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56344632C>A	uc001niz.1	-	c.566G>T	c.(565-567)TGC>TTC	p.C189F		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.25	15.804685	17.402239	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56344632	56344632	11583	11	C	A	A	A	325	25	OR5M10	2	2
NPAS4	266743	broad.mit.edu	37	11	66189682	66189682	+	Silent	SNP	A	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66189682A>C	uc001ohx.1	+	c.267A>C	c.(265-267)ACA>ACC	p.T89T	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	89	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.483871	48.335399	48.341681	15	16	KEEP	---	---	---	---	capture		Silent	SNP	66189682	66189682	10969	11	A	C	C	C	80	7	NPAS4	4	4
NPAS4	266743	broad.mit.edu	37	11	66191054	66191054	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66191054G>C	uc001ohx.1	+	c.814G>C	c.(814-816)GAG>CAG	p.E272Q	NPAS4_uc010rpc.1_Missense_Mutation_p.E62Q	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	272	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.339286	62.930191	64.198245	19	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66191054	66191054	10969	11	G	C	C	C	585	45	NPAS4	3	3
NPAS4	266743	broad.mit.edu	37	11	66192248	66192248	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66192248G>T	uc001ohx.1	+	c.1887G>T	c.(1885-1887)CAG>CAT	p.Q629H	NPAS4_uc010rpc.1_Missense_Mutation_p.Q419H	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	629	Potential.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.446281	158.73607	159.039586	54	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66192248	66192248	10969	11	G	T	T	T	425	33	NPAS4	2	2
FADD	8772	broad.mit.edu	37	11	70049737	70049737	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70049737G>T	uc001opm.2	+	c.172G>T	c.(172-174)GGG>TGG	p.G58W		NM_003824	NP_003815	Q13158	FADD_HUMAN	Fas-associated via death domain	58	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			ovary(1)|pancreas(1)	2	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)							22				0.302326	35.952821	37.456939	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70049737	70049737	5561	11	G	T	T	T	507	39	FADD	1	1
NAALAD2	10003	broad.mit.edu	37	11	89891357	89891357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89891357C>T	uc001pdf.3	+	c.841C>T	c.(841-843)CGA>TGA	p.R281*	NAALAD2_uc009yvx.2_Nonsense_Mutation_p.R281*|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Nonsense_Mutation_p.R281*|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.309091	102.881267	106.414821	34	76	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89891357	89891357	10523	11	C	T	T	T	295	23	NAALAD2	5	1
KNTC1	9735	broad.mit.edu	37	12	123067518	123067518	+	Silent	SNP	A	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123067518A>G	uc001ucv.2	+	c.3249A>G	c.(3247-3249)GCA>GCG	p.A1083A	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1083					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.6	27.954141	28.081322	9	6	KEEP	---	---	---	---	capture		Silent	SNP	123067518	123067518	8742	12	A	G	G	G	67	6	KNTC1	4	4
KRT7	3855	broad.mit.edu	37	12	52627141	52627141	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52627141G>A	uc001saa.1	+	c.61G>A	c.(61-63)GGC>AGC	p.G21S	KRT7_uc009zmf.1_Missense_Mutation_p.G21S	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	21	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)										0.470588	27.001273	27.013818	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52627141	52627141	8798	12	G	A	A	A	507	39	KRT7	1	1
PTPN6	5777	broad.mit.edu	37	12	7066919	7066919	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7066919C>T	uc009zfl.1	+	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	PTPN6_uc001qsa.1_Missense_Mutation_p.R395C|PTPN6_uc010sfr.1_Missense_Mutation_p.R354C|PTPN6_uc001qsb.2_Missense_Mutation_p.R393C|PTPN6_uc010sfs.1_Missense_Mutation_p.R381C	NM_080549	NP_536859	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	393	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1														0.106667	6.657063	18.167736	8	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7066919	7066919	13249	12	C	T	T	T	299	23	PTPN6	1	1
C3AR1	719	broad.mit.edu	37	12	8211356	8211356	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8211356C>G	uc001qtv.1	-	c.1426G>C	c.(1426-1428)GAA>CAA	p.E476Q		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	476	Cytoplasmic (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)										0.542636	475.157217	475.561475	140	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8211356	8211356	2297	12	C	G	G	G	416	32	C3AR1	3	3
ZMYM5	9205	broad.mit.edu	37	13	20411849	20411849	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20411849T>A	uc010tcn.1	-	c.985A>T	c.(985-987)AAA>TAA	p.K329*	ZMYM5_uc001umm.1_Nonsense_Mutation_p.K153*|ZMYM5_uc001umn.2_Nonsense_Mutation_p.K329*|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	329	MYM-type 2.					nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)										0.318182	37.930643	39.225931	14	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20411849	20411849	18294	13	T	A	A	A	793	61	ZMYM5	5	3
NAA16	79612	broad.mit.edu	37	13	41894957	41894957	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41894957C>A	uc001uyf.2	+	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.3_Nonsense_Mutation_p.Y133*|NAA16_uc001uyd.3_Nonsense_Mutation_p.Y133*	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	133					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1														0.37931	31.612919	31.985128	11	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41894957	41894957	10514	13	C	A	A	A	233	18	NAA16	5	2
OLFM4	10562	broad.mit.edu	37	13	53617300	53617300	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53617300G>T	uc001vhl.2	+	c.631G>T	c.(631-633)GCC>TCC	p.A211S	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	211	Potential.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.431373	68.646054	68.854594	22	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53617300	53617300	11260	13	G	T	T	T	598	46	OLFM4	2	2
KLHL1	57626	broad.mit.edu	37	13	70371027	70371027	+	Silent	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70371027G>T	uc001vip.2	-	c.1482C>A	c.(1480-1482)GGC>GGA	p.G494G	KLHL1_uc010thm.1_Silent_p.G433G	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	494	Kelch 1.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.11	12.372662	27.406649	11	89	KEEP	---	---	---	---	capture		Silent	SNP	70371027	70371027	8677	13	G	T	T	T	587	46	KLHL1	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216063	20216063	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20216063G>A	uc010tkt.1	+	c.477G>A	c.(475-477)ATG>ATA	p.M159I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.125	7.28839	14.982258	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20216063	20216063	11491	14	G	A	A	A	598	46	OR4Q3	2	2
OR4L1	122742	broad.mit.edu	37	14	20529107	20529107	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20529107C>T	uc001vwn.1	+	c.904C>T	c.(904-906)CGG>TGG	p.R302W		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.268293	29.710359	31.695092	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20529107	20529107	11484	14	C	T	T	T	243	19	OR4L1	1	1
CHD8	57680	broad.mit.edu	37	14	21873432	21873432	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21873432C>A	uc001was.1	-	c.2406G>T	c.(2404-2406)ATG>ATT	p.M802I	CHD8_uc001war.1_Missense_Mutation_p.M698I|CHD8_uc001wav.1_Missense_Mutation_p.M244I	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1081					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.466667	20.193827	20.210555	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21873432	21873432	3465	14	C	A	A	A	325	25	CHD8	2	2
CPNE6	9362	broad.mit.edu	37	14	24543955	24543955	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24543955G>T	uc010tnv.1	+	c.788G>T	c.(787-789)CGC>CTC	p.R263L	CPNE6_uc001wlm.2_Missense_Mutation_p.R33L|CPNE6_uc001wll.2_Missense_Mutation_p.R208L|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	208	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)										0.3	8.221051	8.578469	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24543955	24543955	3954	14	G	T	T	T	494	38	CPNE6	1	1
ZFP36L1	677	broad.mit.edu	37	14	69256784	69256784	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69256784G>C	uc001xkh.1	-	c.483C>G	c.(481-483)TTC>TTG	p.F161L	ZFP36L1_uc001xki.1_Missense_Mutation_p.F161L	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	161	C3H1-type 2.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)								OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.404255	56.357669	56.748511	19	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69256784	69256784	18234	14	G	C	C	C	529	41	ZFP36L1	3	3
NRXN3	9369	broad.mit.edu	37	14	79433607	79433607	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79433607G>A	uc001xun.2	+	c.1715G>A	c.(1714-1716)AGT>AAT	p.S572N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.S697N	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	945	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.5	41.890552	41.890552	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79433607	79433607	11072	14	G	A	A	A	468	36	NRXN3	2	2
LRRK1	79705	broad.mit.edu	37	15	101567857	101567857	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101567857C>T	uc002bwr.2	+	c.2541C>T	c.(2539-2541)TAC>TAT	p.Y847Y	LRRK1_uc010usb.1_Non-coding_Transcript|LRRK1_uc010usc.1_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	847					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)							1100				0.444444	11.998896	12.023081	4	5	KEEP	---	---	---	---	capture		Silent	SNP	101567857	101567857	9408	15	C	T	T	T	233	18	LRRK1	2	2
NDN	4692	broad.mit.edu	37	15	23932094	23932094	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23932094C>G	uc001ywk.2	-	c.271G>C	c.(271-273)GCA>CCA	p.A91P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	91					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.352941	49.839567	50.809171	18	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23932094	23932094	10646	15	C	G	G	G	338	26	NDN	3	3
TJP1	7082	broad.mit.edu	37	15	30053374	30053374	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30053374G>A	uc010azl.2	-	c.942C>T	c.(940-942)TCC>TCT	p.S314S	TJP1_uc001zcq.2_Silent_p.S330S|TJP1_uc001zcr.2_Silent_p.S326S|TJP1_uc001zcs.2_Silent_p.S326S	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	326					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.263158	39.798115	42.690394	15	42	KEEP	---	---	---	---	capture		Silent	SNP	30053374	30053374	16458	15	G	A	A	A	600	47	TJP1	2	2
CHRM5	1133	broad.mit.edu	37	15	34355794	34355794	+	Silent	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34355794C>A	uc001zhk.1	+	c.876C>A	c.(874-876)GCC>GCA	p.A292A	CHRM5_uc001zhl.1_Silent_p.A292A	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	292	Cytoplasmic (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)									0.287234	71.580209	75.40133	27	67	KEEP	---	---	---	---	capture		Silent	SNP	34355794	34355794	3514	15	C	A	A	A	262	21	CHRM5	2	2
SEMA7A	8482	broad.mit.edu	37	15	74704231	74704231	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74704231C>T	uc002axv.2	-	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	SEMA7A_uc010ulk.1_Missense_Mutation_p.E308K|SEMA7A_uc010ull.1_Missense_Mutation_p.E459K	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	473	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2														0.269231	51.240593	54.989486	21	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74704231	74704231	14529	15	C	T	T	T	377	29	SEMA7A	2	2
XYLT1	64131	broad.mit.edu	37	16	17232349	17232349	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17232349C>T	uc002dfa.2	-	c.1627G>A	c.(1627-1629)GAC>AAC	p.D543N		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	543	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.363636	47.597348	48.31323	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17232349	17232349	18046	16	C	T	T	T	403	31	XYLT1	1	1
MAPK8IP3	23162	broad.mit.edu	37	16	1818265	1818265	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1818265G>A	uc010uvl.1	+	c.3628G>A	c.(3628-3630)GAT>AAT	p.D1210N	MAPK8IP3_uc002cmk.2_Missense_Mutation_p.D1209N|MAPK8IP3_uc002cml.2_Missense_Mutation_p.D1203N	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1209					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			central_nervous_system(1)	1														0.377551	109.757731	111.044452	37	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1818265	1818265	9669	16	G	A	A	A	481	37	MAPK8IP3	1	1
RPL3L	6123	broad.mit.edu	37	16	1994859	1994859	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1994859C>T	uc002cnh.2	-	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	SEPX1_uc010uvs.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	401					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0														0.204082	48.269823	56.215505	20	78	KEEP	---	---	---	---	capture		Silent	SNP	1994859	1994859	14073	16	C	T	T	T	288	23	RPL3L	1	1
SALL1	6299	broad.mit.edu	37	16	51171060	51171060	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51171060C>A	uc010vgs.1	-	c.3938G>T	c.(3937-3939)CGC>CTC	p.R1313L	SALL1_uc010vgr.1_Missense_Mutation_p.R1216L|SALL1_uc010cbv.2_Missense_Mutation_p.R165L	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1313					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.441176	45.701889	45.787721	15	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51171060	51171060	14290	16	C	A	A	A	351	27	SALL1	1	1
CDH15	1013	broad.mit.edu	37	16	89245975	89245975	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89245975T>C	uc002fmt.2	+	c.194T>C	c.(193-195)CTG>CCG	p.L65P	CDH15_uc010cij.1_Missense_Mutation_p.L65P	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	65	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0261)										0.285714	23.232277	24.677173	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89245975	89245975	3229	16	T	C	C	C	715	55	CDH15	4	4
CPD	1362	broad.mit.edu	37	17	28791658	28791658	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28791658C>T	uc002hfb.1	+	c.3969C>T	c.(3967-3969)TGC>TGT	p.C1323C	CPD_uc010wbo.1_Silent_p.C1076C|CPD_uc010wbp.1_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1323	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)	1														0.227545	96.109881	107.453652	38	129	KEEP	---	---	---	---	capture		Silent	SNP	28791658	28791658	3936	17	C	T	T	T	363	28	CPD	2	2
ADAM11	4185	broad.mit.edu	37	17	42849012	42849012	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42849012G>A	uc002ihh.2	+	c.442G>A	c.(442-444)GCC>ACC	p.A148T	ADAM11_uc010wjd.1_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	148					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)												0.2	14.699313	20.214436	13	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42849012	42849012	236	17	G	A	A	A	494	38	ADAM11	1	1
HEATR6	63897	broad.mit.edu	37	17	58127025	58127025	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58127025C>T	uc002iyk.1	-	c.2463G>A	c.(2461-2463)GGG>GGA	p.G821G	HEATR6_uc010ddk.1_Silent_p.G360G|HEATR6_uc010wos.1_Silent_p.G541G	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	821							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)											0.307692	29.906674	31.181067	12	27	KEEP	---	---	---	---	capture		Silent	SNP	58127025	58127025	7316	17	C	T	T	T	327	26	HEATR6	2	2
SOX9	6662	broad.mit.edu	37	17	70117755	70117755	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:70117755G>A	uc002jiw.2	+	c.223G>A	c.(223-225)GAG>AAG	p.E75K		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	75					negative regulation of gene-specific transcription|positive regulation of branching involved in ureteric bud morphogenesis|renal vesicle induction|signal transduction	nucleus	specific RNA polymerase II transcription factor activity|transcription repressor activity				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			Pancreas(42;83 1041 2320 35205 39456)								0.363636	11.697331	11.877157	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70117755	70117755	15458	17	G	A	A	A	481	37	SOX9	1	1
RPTOR	57521	broad.mit.edu	37	17	78811791	78811791	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78811791G>A	uc002jyt.1	+	c.1206G>A	c.(1204-1206)GCG>GCA	p.A402A	RPTOR_uc010wuf.1_Silent_p.A217A|RPTOR_uc010wug.1_Silent_p.A402A	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	402					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)	5										1368				0.266667	10.094547	10.831463	4	11	KEEP	---	---	---	---	capture		Silent	SNP	78811791	78811791	14145	17	G	A	A	A	509	40	RPTOR	1	1
CCDC57	284001	broad.mit.edu	37	17	80159587	80159587	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80159587G>A	uc002kdx.1	-	c.234C>T	c.(232-234)TTC>TTT	p.F78F	CCDC57_uc002kdz.1_Silent_p.F78F	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	78	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)											0.211538	24.404245	28.401287	11	41	KEEP	---	---	---	---	capture		Silent	SNP	80159587	80159587	2950	17	G	A	A	A	477	37	CCDC57	1	1
MYOM1	8736	broad.mit.edu	37	18	3142040	3142040	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3142040G>T	uc002klp.2	-	c.1922C>A	c.(1921-1923)CCG>CAG	p.P641Q	MYOM1_uc002klq.2_Missense_Mutation_p.P641Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.213115	26.118655	30.788358	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3142040	3142040	10486	18	G	T	T	T	507	39	MYOM1	1	1
FHOD3	80206	broad.mit.edu	37	18	34174788	34174788	+	Silent	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34174788C>A	uc002kzs.1	+	c.645C>A	c.(643-645)CTC>CTA	p.L215L	FHOD3_uc002kzr.1_Silent_p.L215L|FHOD3_uc002kzt.1_Silent_p.L215L|FHOD3_uc002kzu.1_Silent_p.L40L|FHOD3_uc010dmz.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	215	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.435897	53.870862	54.010246	17	22	KEEP	---	---	---	---	capture		Silent	SNP	34174788	34174788	6121	18	C	A	A	A	392	31	FHOD3	1	1
PDE4C	5143	broad.mit.edu	37	19	18329147	18329147	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18329147G>A	uc010xqc.1	-	c.1227C>T	c.(1225-1227)CTC>CTT	p.L409L	PDE4C_uc002nik.3_Silent_p.L409L|PDE4C_uc002nil.3_Silent_p.L409L|PDE4C_uc002nif.3_Silent_p.L178L|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Silent_p.L179L|PDE4C_uc010ebk.2_Silent_p.L303L|PDE4C_uc002nii.3_Silent_p.L377L|PDE4C_uc010ebl.2_Silent_p.L123L|PDE4C_uc010xqd.1_Silent_p.L178L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	409					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Dyphylline(DB00651)									0.340206	94.765842	96.945284	33	64	KEEP	---	---	---	---	capture		Silent	SNP	18329147	18329147	12062	19	G	A	A	A	470	37	PDE4C	1	1
PSG7	5676	broad.mit.edu	37	19	43430783	43430783	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43430783C>G	uc002ovl.3	-	c.795G>C	c.(793-795)AAG>AAC	p.K265N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.K143N	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	265	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.272727	176.087644	186.871527	63	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43430783	43430783	13113	19	C	G	G	G	415	32	PSG7	3	3
ZC3H4	23211	broad.mit.edu	37	19	47597309	47597309	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47597309G>C	uc002pga.3	-	c.410C>G	c.(409-411)TCT>TGT	p.S137C	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	137							nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)										0.24	45.37205	50.043522	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47597309	47597309	18158	19	G	C	C	C	429	33	ZC3H4	3	3
KIR3DL1	3811	broad.mit.edu	37	19	55331433	55331433	+	Silent	SNP	A	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55331433A>T	uc002qhk.3	+	c.621A>T	c.(619-621)TCA>TCT	p.S207S	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.S149S|KIR3DL1_uc010esf.2_Silent_p.S112S|KIR3DL1_uc010yfo.1_Silent_p.S149S|KIR3DL1_uc002qhl.3_Silent_p.S207S	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	207	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.707483	354.336479	359.996996	104	43	KEEP	---	---	---	---	capture		Silent	SNP	55331433	55331433	8632	19	A	T	T	T	80	7	KIR3DL1	3	3
GALP	85569	broad.mit.edu	37	19	56688495	56688495	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56688495C>T	uc002qmo.1	+	c.18C>T	c.(16-18)GTC>GTT	p.V6V	GALP_uc010eti.2_Silent_p.V6V	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	6					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)										0.45	26.774166	26.817326	9	11	KEEP	---	---	---	---	capture		Silent	SNP	56688495	56688495	6490	19	C	T	T	T	379	30	GALP	2	2
LONP1	9361	broad.mit.edu	37	19	5720022	5720022	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5720022C>T	uc002mcx.2	-	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	TMEM146_uc010duj.1_5'Flank|TMEM146_uc002mda.2_5'Flank|LONP1_uc002mcy.2_Missense_Mutation_p.R41Q|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.R41Q|LONP1_uc002mcz.2_Intron	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	41				MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLR GQRTCDASPPWALW -> MAGLWRRALATCDCGERRGAGCC GGRCWPRRGAGSHCSRSVVAPRPADLRRLSSLGTV (in Ref. 1; AAA61616).	cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0														0.6	10.026237	10.070105	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5720022	5720022	9264	19	C	T	T	T	403	31	LONP1	1	1
PNPLA6	10908	broad.mit.edu	37	19	7607476	7607476	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7607476G>A	uc010xjq.1	+	c.1309G>A	c.(1309-1311)GAC>AAC	p.D437N	PNPLA6_uc002mgq.1_Missense_Mutation_p.D389N|PNPLA6_uc010xjp.1_Missense_Mutation_p.D389N|PNPLA6_uc002mgr.1_Missense_Mutation_p.D389N|PNPLA6_uc002mgs.2_Missense_Mutation_p.D428N	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	428	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.382353	37.575454	37.984785	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7607476	7607476	12596	19	G	A	A	A	481	37	PNPLA6	1	1
LRRC8E	80131	broad.mit.edu	37	19	7964661	7964661	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7964661G>A	uc002mir.2	+	c.1254G>A	c.(1252-1254)CGG>CGA	p.R418R		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	418						integral to membrane				lung(1)|pancreas(1)	2														0.404762	46.776361	47.105816	17	25	KEEP	---	---	---	---	capture		Silent	SNP	7964661	7964661	9401	19	G	A	A	A	535	42	LRRC8E	2	2
MUC16	94025	broad.mit.edu	37	19	9048804	9048804	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9048804C>A	uc002mkp.2	-	c.32827G>T	c.(32827-32829)GCA>TCA	p.A10943S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10945	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														0.278351	71.788768	76.072469	27	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9048804	9048804	10367	19	C	A	A	A	338	26	MUC16	2	2
COL11A1	1301	broad.mit.edu	37	1	103540213	103540213	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103540213C>T	uc001dum.2	-	c.612G>A	c.(610-612)ACG>ACA	p.T204T	COL11A1_uc001dul.2_Silent_p.T204T|COL11A1_uc001dun.2_Silent_p.T204T|COL11A1_uc009weh.2_Silent_p.T204T	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	204	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.309524	34.552351	35.916335	13	29	KEEP	---	---	---	---	capture		Silent	SNP	103540213	103540213	3805	1	C	T	T	T	288	23	COL11A1	1	1
SLC25A24	29957	broad.mit.edu	37	1	108700189	108700189	+	Silent	SNP	T	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108700189T>C	uc001dvn.3	-	c.564A>G	c.(562-564)GAA>GAG	p.E188E	SLC25A24_uc001dvm.2_Silent_p.E169E	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	188	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)										0.563636	108.410737	108.602242	31	24	KEEP	---	---	---	---	capture		Silent	SNP	108700189	108700189	14984	1	T	C	C	C	829	64	SLC25A24	4	4
TNFRSF8	943	broad.mit.edu	37	1	12186060	12186060	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12186060C>T	uc001atq.2	+	c.1206C>T	c.(1204-1206)AGC>AGT	p.S402S	TNFRSF8_uc010obc.1_Silent_p.S291S|TNFRSF8_uc001atr.2_5'UTR|TNFRSF8_uc001ats.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	402	Helical; (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)						756				0.459459	100.899757	100.996824	34	40	KEEP	---	---	---	---	capture		Silent	SNP	12186060	12186060	16840	1	C	T	T	T	350	27	TNFRSF8	1	1
OR10Z1	128368	broad.mit.edu	37	1	158576834	158576834	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576834C>T	uc010pio.1	+	c.606C>T	c.(604-606)CTC>CTT	p.L202L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.365385	107.996117	109.663341	38	66	KEEP	---	---	---	---	capture		Silent	SNP	158576834	158576834	11329	1	C	T	T	T	366	29	OR10Z1	2	2
TOR3A	64222	broad.mit.edu	37	1	179064160	179064160	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179064160C>G	uc001gmd.2	+	c.1001C>G	c.(1000-1002)CCC>CGC	p.P334R	TOR3A_uc010pnd.1_Missense_Mutation_p.P118R	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	334					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1														0.337349	75.917274	77.887609	28	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179064160	179064160	16918	1	C	G	G	G	286	22	TOR3A	3	3
ASPM	259266	broad.mit.edu	37	1	197071942	197071942	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197071942G>T	uc001gtu.2	-	c.6439C>A	c.(6439-6441)CAA>AAA	p.Q2147K	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2147	IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.388889	127.224803	128.393243	42	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197071942	197071942	1075	1	G	T	T	T	585	45	ASPM	2	2
SKI	6497	broad.mit.edu	37	1	2234506	2234506	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2234506C>T	uc001aja.3	+	c.1059C>T	c.(1057-1059)TCC>TCT	p.S353S		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	353					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		Ovarian(177;144 1678 13697 20086 27838 40755)								0.370968	67.007004	67.914721	23	39	KEEP	---	---	---	---	capture		Silent	SNP	2234506	2234506	14852	1	C	T	T	T	262	21	SKI	2	2
IL22RA1	58985	broad.mit.edu	37	1	24447964	24447964	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24447964G>A	uc001biq.1	-	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	IL22RA1_uc010oeg.1_Silent_p.A284A|IL22RA1_uc009vrb.1_Silent_p.A216A|IL22RA1_uc010oeh.1_Silent_p.A352A	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	352	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)										0.22449	26.203087	29.619158	11	38	KEEP	---	---	---	---	capture		Silent	SNP	24447964	24447964	7974	1	G	A	A	A	548	43	IL22RA1	2	2
LEPR	3953	broad.mit.edu	37	1	66102281	66102281	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66102281C>A	uc001dci.2	+	c.3081C>A	c.(3079-3081)AGC>AGA	p.S1027R	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1027	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.390805	102.428231	103.33757	34	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66102281	66102281	9052	1	C	A	A	A	363	28	LEPR	2	2
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19677462C>A	uc002wrl.2	+	c.1513C>A	c.(1513-1515)CTG>ATG	p.L505M		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	505	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.288889	36.156172	37.954307	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19677462	19677462	14964	20	C	A	A	A	311	24	SLC24A3	2	2
PIWIL3	440822	broad.mit.edu	37	22	25158424	25158424	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25158424G>A	uc003abd.1	-	c.43C>T	c.(43-45)CGC>TGC	p.R15C	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.R15C|TOP1P2_uc003abe.2_5'Flank	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	15					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.4	87.388419	87.999796	28	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25158424	25158424	12383	22	G	A	A	A	507	39	PIWIL3	1	1
DPP10	57628	broad.mit.edu	37	2	115200395	115200395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:115200395C>T	uc002tla.1	+	c.40C>T	c.(40-42)CAA>TAA	p.Q14*		NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	14	Mediates effects on KCND2.|Cytoplasmic (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.275862	20.586202	21.898806	8	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	115200395	115200395	4911	2	C	T	T	T	377	29	DPP10	5	2
E2F6	1876	broad.mit.edu	37	2	11593783	11593783	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11593783C>T	uc002rbh.2	-	c.305G>A	c.(304-306)AGA>AAA	p.R102K	E2F6_uc002rbe.2_Missense_Mutation_p.R27K|E2F6_uc002rbf.2_Missense_Mutation_p.R70K|E2F6_uc002rbg.2_Missense_Mutation_p.R27K|E2F6_uc002rbi.2_Missense_Mutation_p.R27K|E2F6_uc010yjl.1_Non-coding_Transcript|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	102	Potential.|DEF box.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)										0.210937	61.461013	71.352591	27	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11593783	11593783	5057	2	C	T	T	T	416	32	E2F6	2	2
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11750922G>A	uc002rbk.1	+	c.2775G>A	c.(2773-2775)TCG>TCA	p.S925S	GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	925						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		Ovarian(39;850 945 2785 23371 33093)								0.25	46.021619	50.109648	18	54	KEEP	---	---	---	---	capture		Silent	SNP	11750922	11750922	7037	2	G	A	A	A	496	39	GREB1	1	1
GTDC1	79712	broad.mit.edu	37	2	144899585	144899585	+	Missense_Mutation	SNP	T	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:144899585T>A	uc002tvp.2	-	c.385A>T	c.(385-387)AAT>TAT	p.N129Y	GTDC1_uc002tvo.2_Missense_Mutation_p.N129Y|GTDC1_uc002tvq.2_Missense_Mutation_p.N129Y|GTDC1_uc002tvr.2_Missense_Mutation_p.N129Y|GTDC1_uc010fnn.2_Missense_Mutation_p.N129Y|GTDC1_uc002tvs.2_Missense_Mutation_p.N97Y|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.N129Y	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	129					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)										0.285714	33.509977	35.224359	12	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144899585	144899585	7131	2	T	A	A	A	793	61	GTDC1	3	3
LY75	4065	broad.mit.edu	37	2	160636571	160636571	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160636571C>T	uc002ubb.3	-	c.5337G>A	c.(5335-5337)TGG>TGA	p.W1779*	LY75_uc010fos.2_Nonsense_Mutation_p.W1723*|CD302_uc002uba.2_Nonsense_Mutation_p.W138*|CD302_uc010zco.1_Intron	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1645	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)										0.296875	49.533529	51.940914	19	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160636571	160636571	9476	2	C	T	T	T	390	30	LY75	5	2
LY75	4065	broad.mit.edu	37	2	160637477	160637477	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160637477C>G	uc002ubb.3	-	c.5134G>C	c.(5134-5136)GAA>CAA	p.E1712Q	LY75_uc010fos.2_Missense_Mutation_p.E1656Q|CD302_uc002uba.2_Missense_Mutation_p.E71Q|CD302_uc010zco.1_Missense_Mutation_p.E71Q	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1580	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)										0.285714	63.340184	66.572848	22	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160637477	160637477	9476	2	C	G	G	G	416	32	LY75	3	3
LRP2	4036	broad.mit.edu	37	2	170030461	170030461	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170030461C>G	uc002ues.2	-	c.10982G>C	c.(10981-10983)GGA>GCA	p.G3661A		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3661	LDL-receptor class A 29.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.291667	64.154232	66.948418	21	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170030461	170030461	9329	2	C	G	G	G	390	30	LRP2	3	3
TTN	7273	broad.mit.edu	37	2	179449635	179449635	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179449635G>A	uc010zfg.1	-	c.57029C>T	c.(57028-57030)TCC>TTC	p.S19010F	TTN_uc010zfh.1_Missense_Mutation_p.S12705F|TTN_uc010zfi.1_Missense_Mutation_p.S12638F|TTN_uc010zfj.1_Missense_Mutation_p.S12513F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2463										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.224719	48.85284	55.051663	20	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179449635	179449635	17290	2	G	A	A	A	533	41	TTN	2	2
INPP1	3628	broad.mit.edu	37	2	191235886	191235886	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191235886G>T	uc002ury.3	+	c.958G>T	c.(958-960)GCT>TCT	p.A320S	INPP1_uc010fsb.2_Missense_Mutation_p.A320S|INPP1_uc002urx.3_Missense_Mutation_p.A320S	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	320					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	Melanoma(130;184 1743 2185 19805 38428)								0.385965	60.457049	61.130665	22	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191235886	191235886	8052	2	G	T	T	T	598	46	INPP1	2	2
ADAM23	8745	broad.mit.edu	37	2	207406809	207406809	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207406809A>G	uc002vbq.2	+	c.607A>G	c.(607-609)AGA>GGA	p.R203G	ADAM23_uc010ziv.1_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	203					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		Melanoma(194;1127 2130 19620 24042 27855)								0.157895	22.520599	33.211627	15	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207406809	207406809	246	2	A	G	G	G	88	7	ADAM23	4	4
MARCH4	57574	broad.mit.edu	37	2	217142512	217142512	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217142512C>A	uc002vgb.2	-	c.748G>T	c.(748-750)GCC>TCC	p.A250S		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	250	Helical; (Potential).					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)										0.174603	25.52846	31.788047	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217142512	217142512	9686	2	C	A	A	A	351	27	MARCH4	1	1
IRS1	3667	broad.mit.edu	37	2	227663232	227663232	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227663232G>A	uc002voh.3	-	c.223C>T	c.(223-225)CGG>TGG	p.R75W		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	75	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)						143				0.164706	47.624584	65.77494	28	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227663232	227663232	8144	2	G	A	A	A	493	38	IRS1	1	1
THAP4	51078	broad.mit.edu	37	2	242572493	242572493	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242572493C>A	uc002wbt.2	-	c.1079G>T	c.(1078-1080)TGC>TTC	p.C360F		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	360							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)										0.26087	28.673198	31.059398	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242572493	242572493	16374	2	C	A	A	A	325	25	THAP4	2	2
GAL3ST2	64090	broad.mit.edu	37	2	242742902	242742902	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242742902C>T	uc002wcj.1	+	c.518C>T	c.(517-519)TCG>TTG	p.S173L		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	173	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)										0.25	13.938896	15.303085	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242742902	242742902	6462	2	C	T	T	T	403	31	GAL3ST2	1	1
ITSN2	50618	broad.mit.edu	37	2	24533250	24533250	+	Splice_Site_SNP	SNP	C	T	T	rs75937204	byFrequency;by1000genomes	TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24533250C>T	uc002rfe.2	-	c.557_splice	c.e7-1	p.T186_splice	ITSN2_uc002rff.2_Splice_Site_SNP_p.T186_splice|ITSN2_uc002rfg.2_Splice_Site_SNP_p.T186_splice|ITSN2_uc010eyd.2_Splice_Site_SNP_p.T186_splice	NM_006277	NP_006268			intersectin 2 isoform 1						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.216749	115.006981	129.943347	44	159	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	24533250	24533250	8231	2	C	T	T	T	364	28	ITSN2	5	2
WDR43	23160	broad.mit.edu	37	2	29150465	29150465	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29150465A>G	uc002rmo.2	+	c.1204A>G	c.(1204-1206)AAA>GAA	p.K402E		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	402						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.346154	28.57137	29.112713	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29150465	29150465	17868	2	A	G	G	G	13	1	WDR43	4	4
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646673	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80646672_80646673GG>AT	uc010ysh.1	+	c.1236_1237GG>AT	c.(1234-1239)AAGGAA>AAATAA	p.E413*	CTNNA2_uc010yse.1_Nonsense_Mutation_p.E413*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.E413*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.E413*|CTNNA2_uc010ysi.1_Nonsense_Mutation_p.E45*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	413					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.193548	23.374226	28.805408	12	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	80646672	80646673	4172	2	GG	AT	AT	AT	451	35	CTNNA2	5	2
ZNF80	7634	broad.mit.edu	37	3	113955906	113955906	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113955906C>T	uc010hqo.2	-	c.16G>A	c.(16-18)GAT>AAT	p.D6N	ZNF80_uc003ebf.2_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	6					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GBM(23;986 1114 21716)								0.719512	193.736347	197.292472	59	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113955906	113955906	18766	3	C	T	T	T	403	31	ZNF80	1	1
UROC1	131669	broad.mit.edu	37	3	126219701	126219701	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126219701C>T	uc010hsi.1	-	c.1162G>A	c.(1162-1164)GAA>AAA	p.E388K	UROC1_uc003eiz.1_Missense_Mutation_p.E328K	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	328					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)										0.695652	107.323357	108.903925	32	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126219701	126219701	17590	3	C	T	T	T	403	31	UROC1	1	1
ZIC4	84107	broad.mit.edu	37	3	147114065	147114065	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147114065C>A	uc011bno.1	-	c.412G>T	c.(412-414)GCC>TCC	p.A138S	ZIC4_uc003ewc.1_Missense_Mutation_p.A18S|ZIC4_uc003ewd.1_Missense_Mutation_p.A88S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	88	Poly-Ala.					nucleus	DNA binding|zinc ion binding				0														0.5	17.947886	17.947886	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147114065	147114065	18272	3	C	A	A	A	351	27	ZIC4	1	1
SI	6476	broad.mit.edu	37	3	164735446	164735446	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164735446C>A	uc003fei.2	-	c.3649G>T	c.(3649-3651)GTC>TTC	p.V1217F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1217	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.181818	16.972817	21.15824	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164735446	164735446	14792	3	C	A	A	A	260	20	SI	2	2
ARPM1	84517	broad.mit.edu	37	3	169487268	169487268	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169487268G>C	uc003ffs.1	-	c.41C>G	c.(40-42)TCG>TGG	p.S14W		NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	14						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)											0.215054	51.879751	58.828237	20	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169487268	169487268	994	3	G	C	C	C	481	37	ARPM1	3	3
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178936091G>A	uc003fjk.2	+	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545			E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(713)|p.E545?(19)|p.E545Q(11)|p.E545D(1)|p.E545G(1)|p.E545A(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			Colon(199;1504 1750 3362 26421 31210 32040)	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.569767	151.789624	152.157983	49	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178936091	178936091	12337	3	G	A	A	A	585	45	PIK3CA	2	2
KIAA0226	9711	broad.mit.edu	37	3	197444857	197444857	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197444857G>C	uc003fyc.2	-	c.210C>G	c.(208-210)ATC>ATG	p.I70M	KIAA0226_uc003fyd.3_Missense_Mutation_p.I10M|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Missense_Mutation_p.I63M	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	70	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		Esophageal Squamous(3;167 355 3763 15924)								0.145833	25.007325	36.568666	14	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197444857	197444857	8469	3	G	C	C	C	525	41	KIAA0226	3	3
ZNF662	389114	broad.mit.edu	37	3	42956829	42956829	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42956829C>T	uc003cmk.2	+	c.1342C>T	c.(1342-1344)CAC>TAC	p.H448Y	ZNF662_uc003cmi.2_Missense_Mutation_p.H422Y|ZNF662_uc003cmj.2_Missense_Mutation_p.H314Y	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 2	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)										0.3125	27.237854	28.239654	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42956829	42956829	18666	3	C	T	T	T	377	29	ZNF662	2	2
ALPK1	80216	broad.mit.edu	37	4	113348782	113348782	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113348782C>T	uc003iap.3	+	c.756C>T	c.(754-756)AAC>AAT	p.N252N	ALPK1_uc003ian.3_Silent_p.N252N|ALPK1_uc011cfx.1_Silent_p.N174N|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc010imo.2_Silent_p.N80N	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	252					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.259259	18.617653	20.031563	7	20	KEEP	---	---	---	---	capture		Silent	SNP	113348782	113348782	547	4	C	T	T	T	246	19	ALPK1	1	1
WDR17	116966	broad.mit.edu	37	4	177077246	177077246	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177077246C>A	uc003iuj.2	+	c.2549C>A	c.(2548-2550)TCA>TAA	p.S850*	WDR17_uc003iuk.2_Nonsense_Mutation_p.S826*|WDR17_uc003ium.3_Nonsense_Mutation_p.S826*|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Nonsense_Mutation_p.S69*	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	850										ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.333333	52.131017	53.459943	18	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	177077246	177077246	17850	4	C	A	A	A	377	29	WDR17	5	2
SLIT2	9353	broad.mit.edu	37	4	20568974	20568974	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20568974G>T	uc003gpr.1	+	c.2815G>T	c.(2815-2817)GAC>TAC	p.D939Y	SLIT2_uc003gps.1_Missense_Mutation_p.D931Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	939	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.319672	103.289333	106.810803	39	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20568974	20568974	15238	4	G	T	T	T	585	45	SLIT2	2	2
LRRC66	339977	broad.mit.edu	37	4	52861875	52861875	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861875G>A	uc003gzi.2	-	c.1313C>T	c.(1312-1314)CCA>CTA	p.P438L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	438						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.295775	54.644808	57.295769	21	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52861875	52861875	9393	4	G	A	A	A	611	47	LRRC66	2	2
PITX1	5307	broad.mit.edu	37	5	134364901	134364901	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134364901G>T	uc010jea.2	-	c.513C>A	c.(511-513)TAC>TAA	p.Y171*	PITX1_uc011cxy.1_Nonsense_Mutation_p.Y171*	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	171	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding|transcription regulator activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)										0.313725	44.237506	45.839327	16	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134364901	134364901	12378	5	G	T	T	T	516	40	PITX1	5	1
DNAH5	1767	broad.mit.edu	37	5	13850862	13850862	+	Missense_Mutation	SNP	T	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13850862T>A	uc003jfd.2	-	c.5013A>T	c.(5011-5013)GAA>GAT	p.E1671D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.328947	70.468946	72.43036	25	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13850862	13850862	4787	5	T	A	A	A	725	56	DNAH5	3	3
FAM114A2	10827	broad.mit.edu	37	5	153382469	153382469	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153382469C>T	uc003lvb.2	-	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	FAM114A2_uc003lvc.2_Missense_Mutation_p.E352K|FAM114A2_uc003lvd.2_Missense_Mutation_p.E352K|FAM114A2_uc003lve.2_Missense_Mutation_p.E168K|FAM114A2_uc011dda.1_Missense_Mutation_p.E282K	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	352							purine nucleotide binding				0														0.313043	97.37497	101.004016	36	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153382469	153382469	5601	5	C	T	T	T	377	29	FAM114A2	2	2
ADRA1B	147	broad.mit.edu	37	5	159344165	159344165	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:159344165G>T	uc003lxt.1	+	c.253G>T	c.(253-255)GTC>TTC	p.V85F		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	85	Helical; Name=2; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)									0.431373	135.158603	135.581305	44	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159344165	159344165	336	5	G	T	T	T	624	48	ADRA1B	2	2
RUFY1	80230	broad.mit.edu	37	5	179020526	179020526	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179020526G>A	uc003mka.1	+	c.1293G>A	c.(1291-1293)ATG>ATA	p.M431I	RUFY1_uc003mkb.1_Missense_Mutation_p.M323I|RUFY1_uc003mkc.1_Missense_Mutation_p.M323I|RUFY1_uc003mkd.1_Missense_Mutation_p.M33I	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	431	Potential.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.464286	38.374022	38.404799	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179020526	179020526	14218	5	G	A	A	A	611	47	RUFY1	2	2
GFPT2	9945	broad.mit.edu	37	5	179734220	179734220	+	Missense_Mutation	SNP	T	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179734220T>A	uc003mlw.1	-	c.1630A>T	c.(1630-1632)ATG>TTG	p.M544L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	544	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)	1	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)									0.5	12.194458	12.194458	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179734220	179734220	6614	5	T	A	A	A	650	50	GFPT2	3	3
HCN1	348980	broad.mit.edu	37	5	45695955	45695955	+	Missense_Mutation	SNP	A	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45695955A>T	uc003jok.2	-	c.241T>A	c.(241-243)TTC>ATC	p.F81I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	81	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.210526	6.896092	8.365822	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45695955	45695955	7278	5	A	T	T	T	39	3	HCN1	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5237117	5237117	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5237117G>T	uc003jdl.2	+	c.2059G>T	c.(2059-2061)GGA>TGA	p.G687*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.G687*|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	687	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.214953	56.868965	64.892148	23	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5237117	5237117	262	5	G	T	T	T	455	35	ADAMTS16	5	2
GPR98	84059	broad.mit.edu	37	5	89948210	89948210	+	Missense_Mutation	SNP	A	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89948210A>C	uc003kju.2	+	c.3464A>C	c.(3463-3465)CAG>CCG	p.Q1155P	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1155	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.365385	106.827035	108.482221	38	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89948210	89948210	6997	5	A	C	C	C	91	7	GPR98	4	4
MCHR2	84539	broad.mit.edu	37	6	100395747	100395747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100395747G>A	uc003pqh.1	-	c.283C>T	c.(283-285)CGA>TGA	p.R95*	MCHR2_uc003pqi.1_Nonsense_Mutation_p.R95*	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)										0.373832	121.775644	123.27015	40	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100395747	100395747	9772	6	G	A	A	A	506	39	MCHR2	5	1
TTLL2	83887	broad.mit.edu	37	6	167754296	167754296	+	Missense_Mutation	SNP	A	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167754296A>G	uc003qvs.1	+	c.908A>G	c.(907-909)AAT>AGT	p.N303S	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	303	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.234043	110.834599	123.092873	44	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167754296	167754296	17282	6	A	G	G	G	52	4	TTLL2	4	4
ZNF193	7746	broad.mit.edu	37	6	28194989	28194989	+	Missense_Mutation	SNP	A	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28194989A>C	uc010jqz.1	+	c.127A>C	c.(127-129)AGT>CGT	p.S43R	ZNF193_uc003nkq.1_Missense_Mutation_p.S43R|ZNF193_uc003nkr.1_Missense_Mutation_p.S43R	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	43					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.344828	24.000702	24.635978	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28194989	28194989	18348	6	A	C	C	C	91	7	ZNF193	4	4
TAP2	6891	broad.mit.edu	37	6	32797214	32797214	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32797214T>C	uc011dqf.1	-	c.1895A>G	c.(1894-1896)GAG>GGG	p.E632G	TAP2_uc003ocb.1_Missense_Mutation_p.E632G|TAP2_uc003occ.2_Missense_Mutation_p.E632G|TAP2_uc003ocd.2_Missense_Mutation_p.E632G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	632	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.230769	6.413689	7.282429	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32797214	32797214	16072	6	T	C	C	C	702	54	TAP2	4	4
PKHD1	5314	broad.mit.edu	37	6	51732854	51732854	+	Missense_Mutation	SNP	C	G	G			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51732854C>G	uc003pah.1	-	c.7540G>C	c.(7540-7542)GTG>CTG	p.V2514L	PKHD1_uc010jzn.1_Missense_Mutation_p.V497L|PKHD1_uc003pai.2_Missense_Mutation_p.V2514L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2514	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.28125	26.46151	27.83753	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51732854	51732854	12396	6	C	G	G	G	260	20	PKHD1	3	3
PCOLCE	5118	broad.mit.edu	37	7	100201147	100201147	+	Missense_Mutation	SNP	A	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100201147A>T	uc003uvo.2	+	c.190A>T	c.(190-192)ATC>TTC	p.I64F	PCOLCE_uc011kkb.1_Missense_Mutation_p.I64F|PCOLCE_uc010lhb.1_Non-coding_Transcript|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	64	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.607143	59.681658	59.963366	17	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100201147	100201147	12014	7	A	T	T	T	104	8	PCOLCE	3	3
CUX1	1523	broad.mit.edu	37	7	101870706	101870706	+	Missense_Mutation	SNP	A	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101870706A>C	uc003uys.3	+	c.3223A>C	c.(3223-3225)AGT>CGT	p.S1075R	CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyx.3_Missense_Mutation_p.S1064R	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1064					negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.522059	204.108119	204.165862	71	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101870706	101870706	4224	7	A	C	C	C	91	7	CUX1	4	4
ORC5L	5001	broad.mit.edu	37	7	103801549	103801549	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103801549C>A	uc003vcb.2	-	c.1120G>T	c.(1120-1122)GTT>TTT	p.V374F	ORC5L_uc011klp.1_Missense_Mutation_p.V242F	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	374					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0														0.526316	97.648982	97.683133	30	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103801549	103801549	11676	7	C	A	A	A	260	20	ORC5L	2	2
CDHR3	222256	broad.mit.edu	37	7	105636781	105636781	+	Missense_Mutation	SNP	G	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:105636781G>A	uc003vdl.3	+	c.694G>A	c.(694-696)GAA>AAA	p.E232K	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.E219K|CDHR3_uc011klt.1_Missense_Mutation_p.E144K	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	232	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.615385	27.203179	27.355035	8	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105636781	105636781	3249	7	G	A	A	A	481	37	CDHR3	1	1
CHCHD3	54927	broad.mit.edu	37	7	132481310	132481310	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132481310C>A	uc003vrf.2	-	c.568G>T	c.(568-570)GAT>TAT	p.D190Y	CHCHD3_uc003vre.2_Missense_Mutation_p.D185Y|CHCHD3_uc010lmi.2_Non-coding_Transcript|CHCHD3_uc010lmj.2_Silent_p.L47L	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	185	CHCH.					mitochondrial inner membrane	protein binding				0														0.139535	10.021235	15.417862	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132481310	132481310	3451	7	C	A	A	A	377	29	CHCHD3	2	2
STRA8	346673	broad.mit.edu	37	7	134939900	134939900	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134939900G>C	uc011kpx.1	+	c.841G>C	c.(841-843)GAG>CAG	p.E281Q		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	281					DNA replication	cytoplasm|nucleus	transcription regulator activity				0														0.122807	23.27106	39.142151	14	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134939900	134939900	15843	7	G	C	C	C	429	33	STRA8	3	3
MGAM	8972	broad.mit.edu	37	7	141734499	141734499	+	Missense_Mutation	SNP	G	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141734499G>C	uc003vwy.2	+	c.1817G>C	c.(1816-1818)AGA>ACA	p.R606T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	606	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.488372	66.56452	66.569763	21	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141734499	141734499	9931	7	G	C	C	C	429	33	MGAM	3	3
CNTNAP2	26047	broad.mit.edu	37	7	147336253	147336253	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147336253C>T	uc003weu.1	+	c.1953C>T	c.(1951-1953)GTC>GTT	p.V651V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	651	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.287234	68.623538	72.419843	27	67	KEEP	---	---	---	---	capture		Silent	SNP	147336253	147336253	3785	7	C	T	T	T	392	31	CNTNAP2	1	1
ZNF804B	219578	broad.mit.edu	37	7	88963423	88963423	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88963423G>T	uc011khi.1	+	c.1127G>T	c.(1126-1128)AGT>ATT	p.S376I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.464286	40.775135	40.805828	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88963423	88963423	18769	7	G	T	T	T	468	36	ZNF804B	2	2
CSMD3	114788	broad.mit.edu	37	8	113657409	113657409	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113657409G>T	uc003ynu.2	-	c.3239C>A	c.(3238-3240)TCA>TAA	p.S1080*	CSMD3_uc003yns.2_Nonsense_Mutation_p.S352*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S1040*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S976*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1080	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.341463	40.268525	41.164449	14	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113657409	113657409	4087	8	G	T	T	T	585	45	CSMD3	5	2
CPSF1	29894	broad.mit.edu	37	8	145622980	145622980	+	Missense_Mutation	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145622980C>T	uc003zcj.2	-	c.2188G>A	c.(2188-2190)GAG>AAG	p.E730K		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	730					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			NSCLC(133;1088 1848 27708 34777 35269)								0.228571	15.440155	17.858282	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145622980	145622980	3962	8	C	T	T	T	403	31	CPSF1	1	1
CA3	761	broad.mit.edu	37	8	86360276	86360276	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86360276G>T	uc003ydj.2	+	c.677G>T	c.(676-678)CGG>CTG	p.R226L	CA3_uc011lfv.1_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	226					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.310345	24.205495	25.171787	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86360276	86360276	2633	8	G	T	T	T	507	39	CA3	1	1
PHF19	26147	broad.mit.edu	37	9	123626344	123626344	+	Silent	SNP	C	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123626344C>T	uc004bks.1	-	c.951G>A	c.(949-951)CTG>CTA	p.L317L	PHF19_uc011lyf.1_Silent_p.L108L|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2														0.5	37.343148	37.343148	13	13	KEEP	---	---	---	---	capture		Silent	SNP	123626344	123626344	12252	9	C	T	T	T	366	29	PHF19	2	2
TAF1L	138474	broad.mit.edu	37	9	32635526	32635526	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32635526C>A	uc003zrg.1	-	c.52G>T	c.(52-54)GCC>TCC	p.A18S		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	18					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.527273	96.1794	96.215382	29	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32635526	32635526	16044	9	C	A	A	A	351	27	TAF1L	1	1
ACTRT1	139741	broad.mit.edu	37	X	127185968	127185968	+	Missense_Mutation	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:127185968G>T	uc004eum.2	-	c.218C>A	c.(217-219)CCC>CAC	p.P73H		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	73						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.535714	192.107506	192.231956	60	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127185968	127185968	219	23	G	T	T	T	559	43	ACTRT1	2	2
UBA1	7317	broad.mit.edu	37	X	47062565	47062565	+	Silent	SNP	G	T	T			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47062565G>T	uc004dhj.3	+	c.1371G>T	c.(1369-1371)GTG>GTT	p.V457V	UBA1_uc004dhk.3_Silent_p.V457V|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	457	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1														0.6	77.160534	77.504374	24	16	KEEP	---	---	---	---	capture		Silent	SNP	47062565	47062565	17384	23	G	T	T	T	613	48	UBA1	2	2
FOXR2	139628	broad.mit.edu	37	X	55650322	55650322	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55650322C>A	uc004duo.2	+	c.178C>A	c.(178-180)CCT>ACT	p.P60T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	60					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3														0.517241	45.623449	45.630842	15	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55650322	55650322	6278	23	C	A	A	A	338	26	FOXR2	2	2
HEPH	9843	broad.mit.edu	37	X	65475972	65475972	+	Missense_Mutation	SNP	C	A	A			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65475972C>A	uc011moz.1	+	c.2705C>A	c.(2704-2706)CCC>CAC	p.P902H	HEPH_uc004dwn.2_Missense_Mutation_p.P902H|HEPH_uc004dwo.2_Missense_Mutation_p.P632H|HEPH_uc010nkr.2_Missense_Mutation_p.P710H|HEPH_uc011mpa.1_Missense_Mutation_p.P902H|HEPH_uc010nks.2_Missense_Mutation_p.P191H	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	899	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.583333	44.552176	44.697363	14	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65475972	65475972	7337	23	C	A	A	A	286	22	HEPH	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133833	91133833	+	Missense_Mutation	SNP	T	C	C			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133833T>C	uc004efk.1	+	c.2594T>C	c.(2593-2595)ATA>ACA	p.I865T	PCDH11X_uc004efl.1_Missense_Mutation_p.I865T|PCDH11X_uc004efo.1_Missense_Mutation_p.I865T|PCDH11X_uc010nmv.1_Missense_Mutation_p.I865T|PCDH11X_uc004efm.1_Missense_Mutation_p.I865T|PCDH11X_uc004efn.1_Missense_Mutation_p.I865T|PCDH11X_uc004efh.1_Missense_Mutation_p.I865T|PCDH11X_uc004efj.1_Missense_Mutation_p.I865T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	865	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.487805	67.508775	67.5136	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133833	91133833	11928	23	T	C	C	C	637	49	PCDH11X	4	4
TP53	7157	broad.mit.edu	37	17	7579580	7579580	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579580_7579580delG	uc002gim.2	-	c.107_107delC	c.(106-108)CCGfs	p.P36fs	TP53_uc002gig.1_Frame_Shift_Del_p.P36fs|TP53_uc002gih.2_Frame_Shift_Del_p.P36fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P36fs|TP53_uc010cni.1_Frame_Shift_Del_p.P36fs|TP53_uc002gij.2_Frame_Shift_Del_p.P36fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P51fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	36	Transcription activation (acidic).|Interaction with HRMT1L2.		P -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.0?(6)|p.?(1)|p.S33fs*6(1)|p.P13fs*18(1)|p.S33fs*23(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.P36L(NCIH1623-Tumor)|p.P36fs(PL21-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.31			40	87		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7579580	7579580	16923	17	G	-	-	-	507	39	TP53	5	5
FAM5C	339479	broad.mit.edu	37	1	190067324	190067324	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067324_190067324delG	uc001gse.1	-	c.2125_2125delC	c.(2125-2127)CGTfs	p.R709fs	FAM5C_uc010pot.1_Frame_Shift_Del_p.R607fs	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	709						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.34			24	47		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	190067324	190067324	5817	1	G	-	-	-	507	39	FAM5C	5	5
CEP170	9859	broad.mit.edu	37	1	243336107	243336107	+	Frame_Shift_Del	DEL	A	-	-			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243336107_243336107delA	uc001hzs.2	-	c.1608_1608delT	c.(1606-1608)GTTfs	p.V536fs	CEP170_uc001hzt.2_Frame_Shift_Del_p.V438fs|CEP170_uc001hzu.2_Frame_Shift_Del_p.V438fs	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	536						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	243336107	243336107	3383	1	A	-	-	-	158	13	CEP170	5	5
MCC	4163	broad.mit.edu	37	5	112824025	112824030	+	In_Frame_Del	DEL	GCTGCT	-	-			TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112824025_112824030delGCTGCT	uc003kql.3	-	c.82_87delAGCAGC	c.(82-87)AGCAGCdel	p.SS28del		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	556_557					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)						12				0.35			7	13		---	---	---	---	capture_indel		In_Frame_Del	DEL	112824025	112824030	9762	5	GCTGCT	-	-	-	490	38	MCC	5	5
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	CAG	CAG	rs10558845		TCGA-44-5643-01	TCGA-44-5643-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170871013_170871014insCAG	uc003qxt.2	+	c.189_190insCAG	c.(187-192)insCAG	p.95_96insQ	TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	95_96					cell death|general transcription from RNA polymerase II promoter|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	general RNA polymerase II transcription factor activity|promoter binding|repressing transcription factor binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)										0.31			20	44		---	---	---	---	capture_indel		In_Frame_Ins	INS	170871013	170871014	16170	6	-	CAG	CAG	CAG	24	2	TBP	5	5
