Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
GYLTL1B	120071	broad.mit.edu	36	11	45901632	45901632	+	Silent	SNP	T	C	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45901632T>C	uc001nbv.1	+	c.318T>C	c.(316-318)CAT>CAC	p.H106H	GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H|GYLTL1B_uc001nby.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	106	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2														0.717949	101.018123	102.686037	28	11	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.226)	Silent	SNP	45901632	45901632	7187	11	T	C	C	49	49	GYLTL1B	C	4	4
AMBRA1	55626	broad.mit.edu	36	11	46525273	46525273	+	Missense_Mutation	SNP	C	A	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46525273C>A	uc001ncv.1	-	c.344G>T	c.(343-345)TGC>TTC	p.C115F	AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.1_Missense_Mutation_p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	115	WD 2.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.773196	250.27125	256.913772	75	22	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	Missense_Mutation	SNP	46525273	46525273	568	11	C	A	A	25	25	AMBRA1	A	3	3
INTS5	80789	broad.mit.edu	36	11	62172718	62172718	+	Missense_Mutation	SNP	C	A	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62172718C>A	uc001nud.1	-	c.1410G>T	c.(1408-1410)TTG>TTT	p.L470F	GANAB_uc001nub.1_5'Flank|GANAB_uc001nuc.1_5'Flank|GANAB_uc001nua.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	470					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.7375	190.754517	194.833097	59	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62172718	62172718	8082	11	C	A	A	21	21	INTS5	A	3	3
C11orf84	144097	broad.mit.edu	36	11	63337845	63337845	+	Silent	SNP	C	G	G			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63337845C>G	uc001nxt.1	+	c.111C>G	c.(109-111)CCC>CCG	p.P37P		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	37											0														0.5	6.349876	6.349876	2	2	CC		KEEP	---	---	---	---	capture			Silent	SNP	63337845	63337845	1706	11	C	G	G	23	23	C11orf84	G	3	3
KCNK4	50801	broad.mit.edu	36	11	63820955	63820955	+	Silent	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63820955G>A	uc001nzj.1	+	c.219G>A	c.(217-219)GCG>GCA	p.A73A	KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.2_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|KCNK4_uc001nzp.1_5'UTR	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	73						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0														0.361111	70.729663	71.952155	26	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	63820955	63820955	8373	11	G	A	A	39	39	KCNK4	A	1	1
IRAK3	11213	broad.mit.edu	36	12	64883805	64883805	+	Missense_Mutation	SNP	T	C	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:64883805T>C	uc001sth.1	+	c.181T>C	c.(181-183)TAT>CAT	p.Y61H		NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	61	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of cytokine-mediated signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan|response to virus	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|central_nervous_system(1)	4										206				0.525	231.13892	231.20477	63	57	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(28;0.0203)	Missense_Mutation	SNP	64883805	64883805	8127	12	T	C	C	57	57	IRAK3	C	4	4
NFATC4	4776	broad.mit.edu	36	14	23908811	23908811	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23908811C>T	uc001wpc.1	+	c.367C>T	c.(367-369)CCC>TCC	p.P123S	NFATC4_uc010alr.1_Missense_Mutation_p.P186S|NFATC4_uc010als.1_Missense_Mutation_p.P136S|NFATC4_uc010alt.1_Missense_Mutation_p.P155S|NFATC4_uc010alu.1_Intron|NFATC4_uc010alv.1_Missense_Mutation_p.P111S	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	123	Pro-rich.				cell differentiation|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.5	22.917484	22.917484	8	8	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.018)	Missense_Mutation	SNP	23908811	23908811	10765	14	C	T	T	30	30	NFATC4	T	2	2
MLH3	27030	broad.mit.edu	36	14	74583980	74583980	+	Missense_Mutation	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74583980G>C	uc001xrd.1	-	c.2132C>G	c.(2131-2133)TCT>TGT	p.S711C	MLH3_uc001xre.1_Missense_Mutation_p.S711C	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	711					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2														0.462838	486.357434	486.712731	137	159	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00688)	Missense_Mutation	SNP	74583980	74583980	10008	14	G	C	C	33	33	MLH3	C	3	3
CHTF18	63922	broad.mit.edu	36	16	780634	780634	+	Silent	SNP	A	C	C			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:780634A>C	uc002ckf.2	+	c.945A>C	c.(943-945)GCA>GCC	p.A315A	CHTF18_uc002cke.2_Silent_p.A287A|CHTF18_uc010brf.1_5'UTR|CHTF18_uc002ckg.2_5'UTR|RPUSD1_uc002cka.1_5'Flank|RPUSD1_uc002ckb.1_5'Flank|RPUSD1_uc002ckc.1_5'Flank|RPUSD1_uc002ckd.1_5'Flank|CHTF18_uc010bre.1_Non-coding_Transcript	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	287					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)												0.333333	7.420016	7.754383	4	8	AA		KEEP	---	---	---	---	capture			Silent	SNP	780634	780634	3548	16	A	C	C	6	6	CHTF18	C	4	4
PKD1L2	114780	broad.mit.edu	36	16	79692386	79692386	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79692386G>A	uc002fgh.1	-	c.7223C>T	c.(7222-7224)TCG>TTG	p.S2408L	PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2408	Extracellular (Potential).|Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.52381	69.350193	69.370781	22	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79692386	79692386	12389	16	G	A	A	37	37	PKD1L2	A	1	1
AMAC1	146861	broad.mit.edu	36	17	30545040	30545040	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30545040G>A	uc002hjd.1	-	c.400C>T	c.(400-402)CGC>TGC	p.R134C		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	134	DUF6 1.					integral to membrane					0														0.435294	332.43119	333.351836	111	144	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0917)	Missense_Mutation	SNP	30545040	30545040	562	17	G	A	A	37	37	AMAC1	A	1	1
TP53	7157	broad.mit.edu	36	17	7519249	7519249	+	Missense_Mutation	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519249G>C	uc002gim.2	-	c.406C>G	c.(406-408)CAA>GAA	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.1_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	136	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(26)|p.0?(6)|p.Q136E(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.Q136fs*13(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.Q136*(CAOV3-Tumor)|p.Q136fs(K562-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.863636	180.907275	189.3511	57	9	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519249	7519249	16923	17	G	C	C	47	47	TP53	C	3	3
C19orf44	84167	broad.mit.edu	36	19	16475153	16475153	+	Missense_Mutation	SNP	A	G	G			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16475153A>G	uc002neh.1	+	c.1037A>G	c.(1036-1038)GAC>GGC	p.D346G	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.D346G|C19orf44_uc002neg.2_Missense_Mutation_p.D346G|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	346											0														0.188679	9.404839	14.567648	10	43	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16475153	16475153	1991	19	A	G	G	10	10	C19orf44	G	4	4
ZNF585A	199704	broad.mit.edu	36	19	42334701	42334701	+	Nonsense_Mutation	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42334701G>C	uc002ofo.1	-	c.1940C>G	c.(1939-1941)TCA>TGA	p.S647*	ZNF585A_uc002ofm.1_Nonsense_Mutation_p.S592*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.S592*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	647	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.162791	9.393117	14.04991	7	36	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Nonsense_Mutation	SNP	42334701	42334701	18612	19	G	C	C	45	45	ZNF585A	C	5	3
FLG	2312	broad.mit.edu	36	1	150545279	150545279	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150545279C>T	uc001ezu.1	-	c.8707G>A	c.(8707-8709)GAC>AAC	p.D2903N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.233449	330.465632	367.794445	134	440	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150545279	150545279	6160	1	C	T	T	32	32	FLG	T	2	2
OR2W3	343171	broad.mit.edu	36	1	246126228	246126228	+	Silent	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246126228C>T	uc001idp.1	+	c.717C>T	c.(715-717)GGC>GGT	p.G239G	OR2W3_uc001idq.2_Silent_p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.436782	313.692834	314.604915	114	147	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Silent	SNP	246126228	246126228	11439	1	C	T	T	25	25	OR2W3	T	2	2
WDR78	79819	broad.mit.edu	36	1	67085755	67085755	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67085755C>T	uc001dcx.1	-	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	WDR78_uc009waw.1_Missense_Mutation_p.E177K|WDR78_uc009wax.1_Non-coding_Transcript|WDR78_uc001dcy.1_Missense_Mutation_p.E431K	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	431	Glu-rich.									ovary(2)	2														0.107143	8.808616	21.680017	9	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67085755	67085755	17901	1	C	T	T	24	24	WDR78	T	2	2
CDH4	1002	broad.mit.edu	36	20	59938105	59938105	+	Silent	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:59938105C>T	uc002ybn.1	+	c.2049C>T	c.(2047-2049)GCC>GCT	p.A683A	CDH4_uc002ybp.1_Silent_p.A609A	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	683	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5														0.091667	7.294933	27.392909	11	109	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		Silent	SNP	59938105	59938105	3241	20	C	T	T	23	23	CDH4	T	1	1
KRTAP12-4	386684	broad.mit.edu	36	21	44898629	44898629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44898629C>T	uc002zfs.1	-	c.331G>A	c.(331-333)GGC>AGC	p.G111S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	keratin associated protein 12-4	111						keratin filament				ovary(1)	1														0.438356	96.493383	96.734102	32	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44898629	44898629	8836	21	C	T	T	21	21	KRTAP12-4	T	2	2
CLTCL1	8218	broad.mit.edu	36	22	17568877	17568877	+	Missense_Mutation	SNP	T	G	G			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17568877T>G	uc002zpb.1	-	c.3728A>C	c.(3727-3729)AAC>ACC	p.N1243T	CLTCL1_uc002zpc.1_Non-coding_Transcript|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Missense_Mutation_p.N150T|CLTCL1_uc002zpe.1_Missense_Mutation_p.T203P	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1	1243	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)								p.N1243S(HEC108-Tumor)	1206				0.52381	12.310306	12.300236	11	10	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17568877	17568877	3705	22	T	G	G	60	60	CLTCL1	G	4	4
RIF1	55183	broad.mit.edu	36	2	152030877	152030877	+	Silent	SNP	T	C	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152030877T>C	uc002txm.1	+	c.6597T>C	c.(6595-6597)AAT>AAC	p.N2199N	RIF1_uc002txp.2_Non-coding_Transcript|RIF1_uc002txl.1_Silent_p.N2199N|RIF1_uc002txn.1_Silent_p.N2199N|RIF1_uc002txo.1_Silent_p.N2199N	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2199	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12										950				0.416244	288.736978	289.937965	82	115	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.0429)	Silent	SNP	152030877	152030877	13834	2	T	C	C	49	49	RIF1	C	4	4
IDH1	3417	broad.mit.edu	36	2	208821357	208821357	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208821357C>T	uc002vcs.1	-	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.1_Missense_Mutation_p.R132H|IDH1_uc002vcu.1_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(1725)|p.R132?(210)|p.R132C(92)|p.R132L(48)|p.R132G(26)|p.R132S(11)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(1848)|haematopoietic_and_lymphoid_tissue(593)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2451						Pancreas(158;264 1958 3300 35450 36047)				134				0.464789	194.434832	194.588157	66	76	CC		KEEP	---	---	---	---	capture		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	Missense_Mutation	SNP	208821357	208821357	7794	2	C	T	T	19	19	IDH1	T	1	1
RUFY4	285180	broad.mit.edu	36	2	218648601	218648601	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218648601G>A	uc002vgw.2	+	c.622G>A	c.(622-624)GCA>ACA	p.A208T	RUFY4_uc002vgy.1_Non-coding_Transcript|RUFY4_uc010fvl.1_Missense_Mutation_p.A208T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	381							zinc ion binding			pancreas(1)	1		Renal(207;0.0915)												0.42623	77.54082	77.830163	26	35	GG		KEEP	---	---	---	---	capture		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	218648601	218648601	14221	2	G	A	A	38	38	RUFY4	A	1	1
CHRND	1144	broad.mit.edu	36	2	233101223	233101223	+	Missense_Mutation	SNP	C	A	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233101223C>A	uc002vsw.1	+	c.251C>A	c.(250-252)ACA>AAA	p.T84K	CHRND_uc010fyc.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	84	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.487179	122.845771	122.856964	38	40	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Missense_Mutation	SNP	233101223	233101223	3528	2	C	A	A	17	17	CHRND	A	3	3
C2orf55	343990	broad.mit.edu	36	2	98804785	98804785	+	Missense_Mutation	SNP	T	C	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98804785T>C	uc002szf.1	-	c.2383A>G	c.(2383-2385)ACG>GCG	p.T795A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	795	Pro-rich.										0														0.375	36.586194	37.027102	12	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98804785	98804785	2264	2	T	C	C	58	58	C2orf55	C	4	4
PLXND1	23129	broad.mit.edu	36	3	130807519	130807519	+	Missense_Mutation	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130807519G>C	uc003emx.2	-	c.654C>G	c.(652-654)AGC>AGG	p.S218R		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	218	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.363636	9.195913	9.376228	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130807519	130807519	12553	3	G	C	C	34	34	PLXND1	C	3	3
PPP2R3A	5523	broad.mit.edu	36	3	137204672	137204672	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137204672G>A	uc003eqv.1	+	c.1642G>A	c.(1642-1644)GGT>AGT	p.G548S		NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	548					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|pancreas(1)	3														0.351351	153.16132	156.04335	52	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137204672	137204672	12824	3	G	A	A	39	39	PPP2R3A	A	1	1
PIK3CA	5290	broad.mit.edu	36	3	180418777	180418777	+	Missense_Mutation	SNP	A	T	T			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180418777A>T	uc003fjk.1	+	c.1625A>T	c.(1624-1626)GAA>GTA	p.E542V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542			E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(99)|p.E542V(8)|p.E542G(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)					Colon(199;1504 1750 3362 26421 31210 32040)		57		621	TCGA GBM(8;5.49e-07)			0.351852	51.20732	52.253275	19	35	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Missense_Mutation	SNP	180418777	180418777	12337	3	A	T	T	9	9	PIK3CA	T	4	4
LEPREL1	55214	broad.mit.edu	36	3	191164450	191164450	+	Silent	SNP	A	G	G			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191164450A>G	uc003fsf.1	-	c.2025T>C	c.(2023-2025)TAT>TAC	p.Y675Y	LEPREL1_uc003fsg.1_Silent_p.Y494Y	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	675					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)				L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.495283	376.723532	376.728081	105	107	AA		KEEP	---	---	---	---	capture	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	Silent	SNP	191164450	191164450	9054	3	A	G	G	16	16	LEPREL1	G	4	4
DNAH1	25981	broad.mit.edu	36	3	52392942	52392942	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52392942G>A	uc003dds.1	+	c.8177G>A	c.(8176-8178)CGT>CAT	p.R2726H	DNAH1_uc003ddu.1_Non-coding_Transcript|DNAH1_uc003ddv.1_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2726	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3														0.136364	8.319273	13.954489	6	38	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	Missense_Mutation	SNP	52392942	52392942	4779	3	G	A	A	40	40	DNAH1	A	1	1
SPATA4	132851	broad.mit.edu	36	4	177353700	177353700	+	Missense_Mutation	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:177353700G>C	uc003iuo.1	-	c.8C>G	c.(7-9)GCC>GGC	p.A3G		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	3					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)												0.340909	12.994002	14.181822	15	29	GG		KEEP	---	---	---	---	capture		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	Missense_Mutation	SNP	177353700	177353700	15520	4	G	C	C	42	42	SPATA4	C	3	3
HCN1	348980	broad.mit.edu	36	5	45731731	45731731	+	Silent	SNP	G	C	C			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:45731731G>C	uc003jok.1	-	c.222C>G	c.(220-222)GGC>GGG	p.G74G		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	74	Cytoplasmic (Potential).|Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.6	28.848816	28.975201	9	6	GG		KEEP	---	---	---	---	capture			Silent	SNP	45731731	45731731	7278	5	G	C	C	38	38	HCN1	C	3	3
MAP3K1	4214	broad.mit.edu	36	5	56213655	56213655	+	Silent	SNP	A	G	G			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56213655A>G	uc003jqw.2	+	c.2871A>G	c.(2869-2871)CAA>CAG	p.Q957Q		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	957					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)								201				0.453988	267.8399	268.139549	74	89	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	Silent	SNP	56213655	56213655	9626	5	A	G	G	1	1	MAP3K1	G	4	4
ELOVL7	79993	broad.mit.edu	36	5	60089220	60089220	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:60089220C>T	uc003jsi.2	-	c.509G>A	c.(508-510)GGA>GAA	p.G170E	ELOVL7_uc010iwk.1_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.2_Missense_Mutation_p.G157E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	170					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)												0.430769	85.390044	85.661695	28	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60089220	60089220	5271	5	C	T	T	30	30	ELOVL7	T	2	2
GPR6	2830	broad.mit.edu	36	6	110407061	110407061	+	Missense_Mutation	SNP	C	G	G			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110407061C>G	uc003ptu.1	+	c.53C>G	c.(52-54)GCC>GGC	p.A18G		NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	18	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)												0.285714	6.361302	6.971435	4	10	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	Missense_Mutation	SNP	110407061	110407061	6976	6	C	G	G	26	26	GPR6	G	3	3
KCNK16	83795	broad.mit.edu	36	6	39393579	39393579	+	Silent	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39393579G>A	uc003ooq.1	-	c.456C>T	c.(454-456)GCC>GCT	p.A152A	KCNK16_uc010jwy.1_Silent_p.A152A|KCNK16_uc003oor.2_Silent_p.A152A	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	152	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)	2														0.517241	48.327225	48.334818	15	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	39393579	39393579	8368	6	G	A	A	39	39	KCNK16	A	1	1
POM121C	100101267	broad.mit.edu	36	7	74886601	74886601	+	Missense_Mutation	SNP	C	G	G			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:74886601C>G	uc003udk.2	-	c.2804G>C	c.(2803-2805)AGC>ACC	p.S935T		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1177	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0														0.190476	6.585178	8.469188	4	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74886601	74886601	12668	7	C	G	G	28	28	POM121C	G	3	3
ABCB4	5244	broad.mit.edu	36	7	86906970	86906970	+	Silent	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86906970C>T	uc003uiv.1	-	c.1680G>A	c.(1678-1680)ACG>ACA	p.T560T	ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	560	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.42328	225.100183	226.083034	80	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	86906970	86906970	44	7	C	T	T	19	19	ABCB4	T	1	1
LRRC6	23639	broad.mit.edu	36	8	133653867	133653867	+	Missense_Mutation	SNP	A	T	T			TCGA-06-2570-01	TCGA-06-2570-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133653867A>T	uc003ytk.1	-	c.1270T>A	c.(1270-1272)TCA>ACA	p.S424T	LRRC6_uc010mdu.1_Missense_Mutation_p.S424T|LRRC6_uc003ytl.1_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	424						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)													0.102837	22.45489	66.78214	29	253	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133653867	133653867	9391	8	A	T	T	11	11	LRRC6	T	4	4
NDRG1	10397	broad.mit.edu	36	8	134328081	134328081	+	Missense_Mutation	SNP	C	T	T			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134328081C>T	uc003yug.1	-	c.815G>A	c.(814-816)TGC>TAC	p.C272Y	NDRG1_uc010mee.1_Missense_Mutation_p.C191Y|NDRG1_uc010mef.1_Missense_Mutation_p.C206Y|NDRG1_uc003yuh.1_Missense_Mutation_p.C272Y|NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y	NM_006096	NP_006087	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	272					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.461538	242.766647	243.002515	84	98	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0107)		Missense_Mutation	SNP	134328081	134328081	10650	8	C	T	T	25	25	NDRG1	T	2	2
PTK2B	2185	broad.mit.edu	36	8	27371792	27371792	+	Missense_Mutation	SNP	C	G	G			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27371792C>G	uc003xfn.1	+	c.2879C>G	c.(2878-2880)GCA>GGA	p.A960G	PTK2B_uc003xfo.1_Missense_Mutation_p.A960G|PTK2B_uc003xfp.1_Missense_Mutation_p.A960G|PTK2B_uc003xfq.1_Missense_Mutation_p.A918G	NM_173174	NP_775268	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	960	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			ovary(1)|skin(1)	2		Ovarian(32;2.72e-05)							p.A960G(HCT116-Tumor)	347				0.235294	8.490803	9.58124	4	13	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Missense_Mutation	SNP	27371792	27371792	13218	8	C	G	G	25	25	PTK2B	G	3	3
RASEF	158158	broad.mit.edu	36	9	84804961	84804961	+	Missense_Mutation	SNP	T	C	C			TCGA-06-2570-01	TCGA-06-2570-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:84804961T>C	uc004amo.1	-	c.1666A>G	c.(1666-1668)AGT>GGT	p.S556G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	556					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			lung(1)|breast(1)	2														0.449761	336.652864	337.107942	94	115	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84804961	84804961	13529	9	T	C	C	53	53	RASEF	C	4	4
CDKL5	6792	broad.mit.edu	36	X	18507898	18507898	+	Missense_Mutation	SNP	G	A	A			TCGA-06-2570-01	TCGA-06-2570-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18507898G>A	uc004cym.1	+	c.292G>A	c.(292-294)GAA>AAA	p.E98K	CDKL5_uc004cyn.1_Missense_Mutation_p.E98K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	98	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.656863	219.450502	221.66689	67	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18507898	18507898	3286	23	G	A	A	37	37	CDKL5	A	1	1
ZNF81	347344	broad.mit.edu	36	X	47660463	47660463	+	Missense_Mutation	SNP	C	A	A			TCGA-06-2570-01	TCGA-06-2570-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:47660463C>A	uc010nhy.1	+	c.1474C>A	c.(1474-1476)CAT>AAT	p.H492N		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	492	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)												0.186813	33.114494	41.483669	17	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47660463	47660463	18772	23	C	A	A	29	29	ZNF81	A	3	3
