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
PDCD11	22984	broad.mit.edu	36	10	105194387	105194387	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105194387A>G	uc001kwy.1	+	c.5402A>G	c.(5401-5403)TAT>TGT	p.Y1801C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1801	HAT 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)								545				0.54386	216.61102	216.798442	62	52	AA		KEEP	---	---	---	---	capture		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	Missense_Mutation	SNP	105194387	105194387	12038	10	A	G	G	16	16	PDCD11	G	4	4
JMJD1C	221037	broad.mit.edu	36	10	64624068	64624068	+	Missense_Mutation	SNP	T	A	A			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64624068T>A	uc001jmn.1	-	c.5718A>T	c.(5716-5718)CAA>CAT	p.Q1906H	JMJD1C_uc001jml.1_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.1_Missense_Mutation_p.Q1618H|JMJD1C_uc009xpi.1_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1906					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.464286	149.685942	149.81047	52	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64624068	64624068	8254	10	T	A	A	64	64	JMJD1C	A	4	4
WT1	7490	broad.mit.edu	36	11	32370154	32370154	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32370154G>A	uc001mtn.1	-	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	WT1_uc001mtl.1_Nonsense_Mutation_p.R246*|WT1_uc001mtm.1_Nonsense_Mutation_p.R229*|WT1_uc001mto.1_Nonsense_Mutation_p.R458*|WT1_uc001mtp.1_Nonsense_Mutation_p.R441*|WT1_uc001mtq.1_Nonsense_Mutation_p.R441*|WT1_uc009yjs.1_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	390	C2H2-type 3.				adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding	p.R390*(8)|p.V380_S410del(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)									684				0.312977	335.280578	347.517256	123	270	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(30;0.128)		Nonsense_Mutation	SNP	32370154	32370154	17982	11	G	A	A	38	38	WT1	A	5	1
OR5W2	390148	broad.mit.edu	36	11	55438054	55438054	+	Missense_Mutation	SNP	A	T	T			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55438054A>T	uc001nib.1	-	c.581T>A	c.(580-582)GTC>GAC	p.V194D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.342697	171.520546	175.41201	61	117	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55438054	55438054	11595	11	A	T	T	10	10	OR5W2	T	4	4
CHID1	66005	broad.mit.edu	36	11	892312	892312	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:892312C>T	uc001lsn.1	-	c.355G>A	c.(355-357)GAT>AAT	p.D119N	CHID1_uc001lsl.1_Missense_Mutation_p.D94N|CHID1_uc001lsm.1_Missense_Mutation_p.D94N|CHID1_uc001lso.1_Missense_Mutation_p.D94N|CHID1_uc001lsp.1_Missense_Mutation_p.D94N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	94					chitin catabolic process	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)				Pancreas(117;992 2327 5172 41921)								0.337079	82.830085	84.915891	30	59	CC		KEEP	---	---	---	---	capture		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Missense_Mutation	SNP	892312	892312	3479	11	C	T	T	31	31	CHID1	T	1	1
SVOP	55530	broad.mit.edu	36	12	107830596	107830596	+	Missense_Mutation	SNP	G	C	C			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107830596G>C	uc001tnt.1	-	c.1491C>G	c.(1489-1491)TGC>TGG	p.C497W		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	497	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0														0.296296	10.006056	11.138026	8	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107830596	107830596	15943	12	G	C	C	34	34	SVOP	C	3	3
PTPRO	5800	broad.mit.edu	36	12	15541541	15541541	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15541541G>A	uc001rcv.1	+	c.445G>A	c.(445-447)GTT>ATT	p.V149I	PTPRO_uc001rcu.1_Missense_Mutation_p.V149I|PTPRO_uc001rcw.1_Missense_Mutation_p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	149	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.340426	220.130314	225.418463	80	155	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15541541	15541541	13266	12	G	A	A	40	40	PTPRO	A	1	1
FOXM1	2305	broad.mit.edu	36	12	2845919	2845919	+	Silent	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2845919G>A	uc001qle.1	-	c.876C>T	c.(874-876)CAC>CAT	p.H292H	FOXM1_uc001qlf.1_Silent_p.H292H|FOXM1_uc001qlg.1_Silent_p.H292H|FOXM1_uc009zea.1_Silent_p.H291H|FOXM1_uc009zeb.1_Silent_p.H291H	NM_202002	NP_973731	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 1	292	Fork-head.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|pattern specification process|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|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			central_nervous_system(1)|skin(1)	2														0.363636	113.725388	115.501812	40	70	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		Silent	SNP	2845919	2845919	6264	12	G	A	A	40	40	FOXM1	A	1	1
ANP32D	23519	broad.mit.edu	36	12	47153050	47153050	+	Missense_Mutation	SNP	A	C	C			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47153050A>C	uc001rrq.1	+	c.336A>C	c.(334-336)TTA>TTC	p.L112F		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	112								p.L112_E113>*(1)		ovary(1)|central_nervous_system(1)	2														0.360902	139.528258	141.806941	48	85	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47153050	47153050	716	12	A	C	C	15	15	ANP32D	C	4	4
NR4A1	3164	broad.mit.edu	36	12	50737298	50737298	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50737298G>A	uc001rzq.1	+	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	NR4A1_uc001rzs.1_Missense_Mutation_p.R450H|NR4A1_uc001rzt.1_Missense_Mutation_p.R450H|NR4A1_uc009zmc.1_Missense_Mutation_p.A64T	NM_173157	NP_775180	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	450	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0														0.419355	34.766284	34.942878	13	18	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0967)	Missense_Mutation	SNP	50737298	50737298	11037	12	G	A	A	38	38	NR4A1	A	1	1
FAM90A1	55138	broad.mit.edu	36	12	8267421	8267421	+	Splice_Site_SNP	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8267421C>T	uc001qui.2	-	c.324_splice	c.e6-1	p.R108_splice	FAM90A1_uc001quh.2_Splice_Site_SNP_p.R108_splice	NM_018088	NP_060558			hypothetical protein LOC55138								nucleic acid binding|zinc ion binding			ovary(1)	1														0.289855	56.485632	59.208276	20	49	CC		KEEP	---	---	---	---	capture		Kidney(36;0.0866)	Splice_Site_SNP	SNP	8267421	8267421	5876	12	C	T	T	24	24	FAM90A1	T	5	2
EFS	10278	broad.mit.edu	36	14	22898998	22898998	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22898998C>T	uc001wjo.1	-	c.529G>A	c.(529-531)GCC>ACC	p.A177T	EFS_uc001wjp.1_Missense_Mutation_p.A84T	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	177	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)													0.360656	107.356395	109.444095	44	78	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00649)	Missense_Mutation	SNP	22898998	22898998	5148	14	C	T	T	25	25	EFS	T	2	2
CPPED1	55313	broad.mit.edu	36	16	12706058	12706058	+	Silent	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:12706058G>A	uc002dca.2	-	c.639C>T	c.(637-639)ATC>ATT	p.I213I	CPPED1_uc002dcb.2_Intron|CPPED1_uc002dbz.2_Non-coding_Transcript	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	hypothetical protein LOC55313 isoform a	213							hydrolase activity|metal ion binding				0														0.356061	135.996988	138.402369	47	85	GG		KEEP	---	---	---	---	capture			Silent	SNP	12706058	12706058	3960	16	G	A	A	37	37	CPPED1	A	1	1
TCEB2	6923	broad.mit.edu	36	16	2765486	2765486	+	Missense_Mutation	SNP	C	G	G			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2765486C>G	uc002crm.1	-	c.211G>C	c.(211-213)GCC>CCC	p.A71P	TCEB2_uc002crn.1_Missense_Mutation_p.A71P	NM_207013	NP_996896	Q15370	ELOB_HUMAN	elongin B isoform b	71					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding				0						GBM(141;5215 5962)								0.185185	6.373577	8.880404	5	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2765486	2765486	16206	16	C	G	G	26	26	TCEB2	G	3	3
ULK2	9706	broad.mit.edu	36	17	19645823	19645823	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19645823C>T	uc002gwm.2	-	c.1300G>A	c.(1300-1302)GCA>ACA	p.A434T	ULK2_uc002gwn.1_Missense_Mutation_p.A434T	NM_014683	NP_055498	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	434					protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.360434	356.84589	363.184464	133	236	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19645823	19645823	17534	17	C	T	T	25	25	ULK2	T	2	2
RAB34	83871	broad.mit.edu	36	17	24066410	24066410	+	Missense_Mutation	SNP	G	C	C			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24066410G>C	uc002hcf.1	-	c.446C>G	c.(445-447)GCC>GGC	p.A149G	RAB34_uc002hcd.1_Missense_Mutation_p.A148G|RAB34_uc002hcc.2_Missense_Mutation_p.A149G|RAB34_uc002hce.1_Missense_Mutation_p.A148G|RAB34_uc002hcg.1_Missense_Mutation_p.A148G|RAB34_uc002hch.1_Missense_Mutation_p.A148G	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	RAB39 isoform 1	148					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					Pancreas(175;216 2049 29940 32498 41589)								0.388889	8.463928	8.705116	7	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24066410	24066410	13383	17	G	C	C	42	42	RAB34	C	3	3
UNC45B	146862	broad.mit.edu	36	17	30506462	30506462	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30506462G>A	uc002hja.1	+	c.674G>A	c.(673-675)CGA>CAA	p.R225Q	UNC45B_uc002hjb.1_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.1_Missense_Mutation_p.R225Q|UNC45B_uc010cto.1_Missense_Mutation_p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	225					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.297872	112.774897	117.939671	42	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30506462	30506462	17547	17	G	A	A	37	37	UNC45B	A	1	1
RNF43	54894	broad.mit.edu	36	17	53794917	53794917	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53794917C>T	uc002iwf.1	-	c.674G>A	c.(673-675)CGC>CAC	p.R225H	RNF43_uc002iwh.2_Missense_Mutation_p.R225H|RNF43_uc002iwg.2_Missense_Mutation_p.R225H|RNF43_uc010dcw.1_Missense_Mutation_p.R98H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43	225	Cytoplasmic (Potential).			R -> H (in Ref. 2; BAH12429).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.433628	127.909075	128.329143	49	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53794917	53794917	13974	17	C	T	T	27	27	RNF43	T	1	1
BPTF	2186	broad.mit.edu	36	17	63320034	63320034	+	Silent	SNP	T	C	C			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63320034T>C	uc002jgf.1	+	c.2142T>C	c.(2140-2142)TTT>TTC	p.F714F	BPTF_uc002jge.1_Silent_p.F840F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	840	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.431579	142.888284	143.269844	41	54	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Silent	SNP	63320034	63320034	1523	17	T	C	C	61	61	BPTF	C	4	4
EFNB3	1949	broad.mit.edu	36	17	7553495	7553495	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7553495G>A	uc002gis.1	+	c.899G>A	c.(898-900)GGC>GAC	p.G300D		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	300	Cytoplasmic (Potential).				cell-cell signaling|ephrin receptor signaling pathway|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)												0.292929	74.25927	78.046392	29	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7553495	7553495	5145	17	G	A	A	42	42	EFNB3	A	2	2
DNAH2	146754	broad.mit.edu	36	17	7567677	7567677	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7567677G>A	uc002giu.1	+	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	DNAH2_uc002git.2_Missense_Mutation_p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	58	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.268657	51.26039	54.471578	18	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7567677	7567677	4785	17	G	A	A	39	39	DNAH2	A	1	1
P4HB	5034	broad.mit.edu	36	17	77396747	77396747	+	Silent	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77396747A>G	uc002kbn.1	-	c.1338T>C	c.(1336-1338)TTT>TTC	p.F446F	P4HB_uc002kbl.1_Silent_p.F123F|P4HB_uc002kbm.1_Silent_p.F123F	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	446	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)					Colon(49;444 983 1296 7887 42561)				156				0.285714	9.35732	10.611285	8	20	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		Silent	SNP	77396747	77396747	11772	17	A	G	G	9	9	P4HB	G	4	4
DSC1	1823	broad.mit.edu	36	18	26990072	26990072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26990072G>A	uc002kwn.1	-	c.403C>T	c.(403-405)CGA>TGA	p.R135*	DSC1_uc002kwm.1_Nonsense_Mutation_p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	135	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3														0.290323	121.971895	128.043418	45	110	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		Nonsense_Mutation	SNP	26990072	26990072	4949	18	G	A	A	40	40	DSC1	A	5	1
ALPK2	115701	broad.mit.edu	36	18	54322171	54322171	+	Missense_Mutation	SNP	A	C	C			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54322171A>C	uc002lhj.2	-	c.6219T>G	c.(6217-6219)AGT>AGG	p.S2073R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2073	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.304207	293.629195	304.201593	94	215	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54322171	54322171	548	18	A	C	C	6	6	ALPK2	C	4	4
SERPINB10	5273	broad.mit.edu	36	18	59736253	59736253	+	Silent	SNP	C	T	T	rs61761878	unknown	TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59736253C>T	uc010dqi.1	+	c.309C>T	c.(307-309)AAC>AAT	p.N103N	SERPINB10_uc002ljr.1_Silent_p.N103N	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	103						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)	2		Esophageal squamous(42;0.131)												0.485437	149.953053	149.971537	50	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	59736253	59736253	14585	18	C	T	T	19	19	SERPINB10	T	1	1
SIRT6	51548	broad.mit.edu	36	19	4126092	4126092	+	Missense_Mutation	SNP	T	G	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4126092T>G	uc002lzo.1	-	c.671A>C	c.(670-672)AAC>ACC	p.N224T	SIRT6_uc002lzn.1_Missense_Mutation_p.T139P|SIRT6_uc002lzp.1_Missense_Mutation_p.T150P|SIRT6_uc002lzq.1_Missense_Mutation_p.N197T|SIRT6_uc002lzr.1_Missense_Mutation_p.N125T	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	sirtuin 6	224	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			skin(1)	1		Hepatocellular(1079;0.137)												0.333333	9.995217	10.290816	4	8	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4126092	4126092	14837	19	T	G	G	60	60	SIRT6	G	4	4
LILRA2	11027	broad.mit.edu	36	19	59778789	59778789	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59778789G>A	uc002qgg.2	+	c.910G>A	c.(910-912)GAG>AAG	p.E304K	LILRA2_uc010ern.1_Missense_Mutation_p.E304K|LILRA2_uc002qgf.1_Missense_Mutation_p.E304K|LILRA2_uc010ero.1_Missense_Mutation_p.E292K	NM_006866	NP_006857	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	304	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1														0.202381	75.478174	89.28534	34	134	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0963)	Missense_Mutation	SNP	59778789	59778789	9111	19	G	A	A	37	37	LILRA2	A	1	1
C3	718	broad.mit.edu	36	19	6632977	6632977	+	Missense_Mutation	SNP	T	G	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6632977T>G	uc002mfm.1	-	c.4325A>C	c.(4324-4326)AAC>ACC	p.N1442T	C3_uc002mfl.1_Missense_Mutation_p.N178T	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1442	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2														0.242038	199.346753	218.404127	76	238	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Missense_Mutation	SNP	6632977	6632977	2296	19	T	G	G	60	60	C3	G	4	4
SPTA1	6708	broad.mit.edu	36	1	156880741	156880741	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156880741C>T	uc001fst.1	-	c.4264G>A	c.(4264-4266)GAC>AAC	p.D1422N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1422	Spectrin 14.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.369565	138.978911	141.046025	51	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156880741	156880741	15630	1	C	T	T	29	29	SPTA1	T	2	2
DCAF6	55827	broad.mit.edu	36	1	166258899	166258899	+	Silent	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166258899C>T	uc001gex.1	+	c.1599C>T	c.(1597-1599)GAC>GAT	p.D533D	DCAF6_uc001gev.1_Silent_p.D476D|DCAF6_uc001gew.1_Intron|DCAF6_uc001gey.1_Silent_p.D329D	NM_018442	NP_060912	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform a	515					positive regulation of transcription from RNA polymerase II promoter|protein ubiquitination	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.25	37.6025	41.007166	15	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	166258899	166258899	4445	1	C	T	T	19	19	DCAF6	T	1	1
CELA3B	23436	broad.mit.edu	36	1	22185708	22185708	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22185708G>A	uc001bfk.1	+	c.740G>A	c.(739-741)CGC>CAC	p.R247H	CELA3B_uc009vqf.1_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B preproprotein	247	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1														0.357143	106.900379	108.899642	40	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22185708	22185708	3347	1	G	A	A	38	38	CELA3B	A	1	1
ZNF683	257101	broad.mit.edu	36	1	26563810	26563810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:26563810G>A	uc001bmg.1	-	c.814C>T	c.(814-816)CGA>TGA	p.R272*	ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.415094	138.60039	139.262182	44	62	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	Nonsense_Mutation	SNP	26563810	26563810	18685	1	G	A	A	39	39	ZNF683	A	5	1
NTSR1	4923	broad.mit.edu	36	20	60856580	60856580	+	Silent	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60856580C>T	uc002ydf.1	+	c.813C>T	c.(811-813)GCC>GCT	p.A271A		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	271	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)					GBM(37;400 780 6403 19663 35669)				297				0.235772	70.430078	78.272759	29	94	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		Silent	SNP	60856580	60856580	11115	20	C	T	T	23	23	NTSR1	T	1	1
ELFN2	114794	broad.mit.edu	36	22	36099756	36099756	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36099756A>G	uc003asq.2	-	c.1765T>C	c.(1765-1767)TCA>CCA	p.S589P	ELFN2_uc010gxg.1_Missense_Mutation_p.S589P	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	589	Cytoplasmic (Potential).					cell surface|integral to membrane				ovary(1)	1	Melanoma(58;0.0574)													0.4	7.642323	7.799533	6	9	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36099756	36099756	5250	22	A	G	G	11	11	ELFN2	G	4	4
ZBED4	9889	broad.mit.edu	36	22	48665844	48665844	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48665844C>T	uc003bix.2	+	c.2530C>T	c.(2530-2532)CGG>TGG	p.R844W	ZBED4_uc010hai.1_Missense_Mutation_p.R844W	NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	844						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)												0.290323	23.962278	25.18364	9	22	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	48665844	48665844	18104	22	C	T	T	27	27	ZBED4	T	1	1
UGGT1	56886	broad.mit.edu	36	2	128651897	128651897	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128651897G>A	uc002tps.1	+	c.3646G>A	c.(3646-3648)GTG>ATG	p.V1216M	UGGT1_uc002tpr.1_Missense_Mutation_p.V1192M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1216					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.308943	206.090909	214.103493	76	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128651897	128651897	17499	2	G	A	A	44	44	UGGT1	A	2	2
SP110	3431	broad.mit.edu	36	2	230775556	230775556	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230775556C>T	uc002vqg.2	-	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	SP110_uc002vqh.2_Missense_Mutation_p.R344Q|SP110_uc010fxj.1_Intron|SP110_uc002vqi.2_Missense_Mutation_p.R344Q|SP110_uc010fxk.1_Missense_Mutation_p.R342Q	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform c	344					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)								445				0.337423	147.382575	151.238739	55	108	CC		KEEP	---	---	---	---	capture		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Missense_Mutation	SNP	230775556	230775556	15461	2	C	T	T	31	31	SP110	T	1	1
KIF1A	547	broad.mit.edu	36	2	241306141	241306141	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241306141G>A	uc010fzk.1	-	c.5332C>T	c.(5332-5334)CGG>TGG	p.R1778W	KIF1A_uc002vzw.1_Missense_Mutation_p.R338W|KIF1A_uc002vzx.1_Missense_Mutation_p.R404W|KIF1A_uc002vzy.1_Missense_Mutation_p.R1677W	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1677					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.4	10.696649	10.784409	4	6	GG		KEEP	---	---	---	---	capture		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	Missense_Mutation	SNP	241306141	241306141	8594	2	G	A	A	40	40	KIF1A	A	1	1
GPR113	165082	broad.mit.edu	36	2	26390905	26390905	+	Missense_Mutation	SNP	C	G	G			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26390905C>G	uc002rhe.2	-	c.1013G>C	c.(1012-1014)CGA>CCA	p.R338P	GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Missense_Mutation_p.R139P|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Non-coding_Transcript	NM_153835	NP_722577	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 3	338	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.230769	10.329649	12.068792	6	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26390905	26390905	6904	2	C	G	G	31	31	GPR113	G	3	3
SLC4A5	57835	broad.mit.edu	36	2	74333016	74333016	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74333016C>T	uc002sko.1	-	c.1276G>A	c.(1276-1278)GTG>ATG	p.V426M	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.1_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	426	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.179775	29.540236	38.132022	16	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74333016	74333016	15154	2	C	T	T	17	17	SLC4A5	T	2	2
SENP2	59343	broad.mit.edu	36	3	186809822	186809822	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186809822A>G	uc003fpn.1	+	c.712A>G	c.(712-714)AAT>GAT	p.N238D		NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	238					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)													0.096774	9.704125	24.855219	9	84	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		Missense_Mutation	SNP	186809822	186809822	14533	3	A	G	G	1	1	SENP2	G	4	4
WDR48	57599	broad.mit.edu	36	3	39101190	39101190	+	Silent	SNP	T	G	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39101190T>G	uc003cit.1	+	c.1332T>G	c.(1330-1332)TCT>TCG	p.S444S	WDR48_uc003ciu.2_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	444					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2														0.25	76.416551	83.008638	29	87	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	Silent	SNP	39101190	39101190	17874	3	T	G	G	55	55	WDR48	G	4	4
NDST4	64579	broad.mit.edu	36	4	116217557	116217557	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:116217557A>G	uc003ibu.1	-	c.85T>C	c.(85-87)TCT>CCT	p.S29P	NDST4_uc010imw.1_Intron|NDST4_uc010imx.1_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan	29	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)												0.3125	62.877988	64.880212	20	44	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	Missense_Mutation	SNP	116217557	116217557	10657	4	A	G	G	9	9	NDST4	G	4	4
FBXL5	26234	broad.mit.edu	36	4	15236033	15236033	+	Missense_Mutation	SNP	C	A	A			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15236033C>A	uc003goc.1	-	c.1790G>T	c.(1789-1791)GGA>GTA	p.G597V	FBXL5_uc010idw.1_Missense_Mutation_p.G510V|FBXL5_uc003gob.1_Missense_Mutation_p.G471V|FBXL5_uc010idx.1_Missense_Mutation_p.G596V|FBXL5_uc003god.1_Missense_Mutation_p.G580V|FBXL5_uc010idy.1_Missense_Mutation_p.G597V	NM_012161	NP_277077	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	597	LRR 5.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.32381	89.307716	92.204086	34	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15236033	15236033	5959	4	C	A	A	30	30	FBXL5	A	3	3
SLCO6A1	133482	broad.mit.edu	36	5	101844014	101844014	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101844014C>T	uc003knn.2	-	c.382G>A	c.(382-384)GTC>ATC	p.V128I	SLCO6A1_uc003kno.2_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.1_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.1_Missense_Mutation_p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	128	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)												0.371429	141.776598	143.841872	52	88	CC		KEEP	---	---	---	---	capture		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	Missense_Mutation	SNP	101844014	101844014	15229	5	C	T	T	17	17	SLCO6A1	T	2	2
PCDHAC2	56134	broad.mit.edu	36	5	140326723	140326723	+	Missense_Mutation	SNP	G	C	C			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140326723G>C	uc003lii.1	+	c.188G>C	c.(187-189)CGC>CCC	p.R63P	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lic.1_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.1_Intron|PCDHAC1_uc003lih.1_Intron|PCDHAC2_uc003lij.1_Missense_Mutation_p.R63P	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	63	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2						Melanoma(190;638 2083 3390 11909 52360)								0.24	10.357582	11.891096	6	19	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140326723	140326723	11953	5	G	C	C	38	38	PCDHAC2	C	3	3
PCDHB5	26167	broad.mit.edu	36	5	140497096	140497096	+	Silent	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140497096C>T	uc003liq.1	+	c.1896C>T	c.(1894-1896)CGC>CGT	p.R632R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	632	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2														0.428571	122.035662	122.470968	42	56	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140497096	140497096	11965	5	C	T	T	27	27	PCDHB5	T	1	1
PCDHGA7	56108	broad.mit.edu	36	5	140744539	140744539	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744539G>A	uc003lka.1	+	c.1889G>A	c.(1888-1890)CGG>CAG	p.R630Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R630Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.377049	68.532985	69.333343	23	38	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140744539	140744539	11979	5	G	A	A	39	39	PCDHGA7	A	1	1
ABLIM3	22885	broad.mit.edu	36	5	148566830	148566830	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148566830A>G	uc003lpy.2	+	c.515A>G	c.(514-516)CAC>CGC	p.H172R	ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.2_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.2_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	172	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2														0.25	52.517482	57.511427	22	66	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148566830	148566830	97	5	A	G	G	6	6	ABLIM3	G	4	4
GABRA1	2554	broad.mit.edu	36	5	161232874	161232874	+	Missense_Mutation	SNP	C	A	A			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161232874C>A	uc010jiw.1	+	c.429C>A	c.(427-429)AAC>AAA	p.N143K	GABRA1_uc010jix.1_Missense_Mutation_p.N143K|GABRA1_uc010jiy.1_Missense_Mutation_p.N143K|GABRA1_uc003lyx.2_Missense_Mutation_p.N143K|GABRA1_uc010jiz.1_Missense_Mutation_p.N143K|GABRA1_uc010jja.1_Missense_Mutation_p.N143K|GABRA1_uc010jjb.1_Missense_Mutation_p.N143K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	143	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)			Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.265823	53.335858	57.25276	21	58	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Missense_Mutation	SNP	161232874	161232874	6411	5	C	A	A	17	17	GABRA1	A	3	3
UGT3A2	167127	broad.mit.edu	36	5	36071671	36071671	+	Silent	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36071671G>A	uc003jjz.1	-	c.1458C>T	c.(1456-1458)CTC>CTT	p.L486L	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	486	Helical; (Potential).			L -> F (in Ref. 1; AAQ88782).		integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.454545	92.746517	92.864659	30	36	GG		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Silent	SNP	36071671	36071671	17522	5	G	A	A	37	37	UGT3A2	A	1	1
SLC35D3	340146	broad.mit.edu	36	6	137287368	137287368	+	Missense_Mutation	SNP	G	T	T			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:137287368G>T	uc003qhe.1	+	c.1092G>T	c.(1090-1092)AGG>AGT	p.R364S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	364					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)													0.259259	32.324191	35.159949	14	40	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	Missense_Mutation	SNP	137287368	137287368	15080	6	G	T	T	43	43	SLC35D3	T	3	3
SYNE1	23345	broad.mit.edu	36	6	152793004	152793004	+	Missense_Mutation	SNP	A	T	T			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152793004A>T	uc010kiw.1	-	c.4724T>A	c.(4723-4725)CTT>CAT	p.L1575H	SYNE1_uc003qot.2_Missense_Mutation_p.L1582H|SYNE1_uc003qou.2_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.2_Missense_Mutation_p.L870H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1575	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.4	35.99327	36.255878	12	18	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Missense_Mutation	SNP	152793004	152793004	15966	6	A	T	T	3	3	SYNE1	T	4	4
PGC	5225	broad.mit.edu	36	6	41812604	41812604	+	Silent	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41812604C>T	uc003ora.1	-	c.1131G>A	c.(1129-1131)TTG>TTA	p.L377L	TFEB_uc003oqu.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	377					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)													0.336634	88.213476	90.60053	34	67	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		Silent	SNP	41812604	41812604	12208	6	C	T	T	21	21	PGC	T	2	2
RREB1	6239	broad.mit.edu	36	6	7176840	7176840	+	Missense_Mutation	SNP	T	G	G			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7176840T>G	uc003mxb.1	+	c.3509T>G	c.(3508-3510)GTG>GGG	p.V1170G	RREB1_uc003mxc.1_Missense_Mutation_p.V1170G|RREB1_uc010jnx.1_Missense_Mutation_p.V1170G|RREB1_uc003mxe.1_Missense_Mutation_p.V1170G	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1170					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.285714	7.385338	7.969221	4	10	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7176840	7176840	14159	6	T	G	G	59	59	RREB1	G	4	4
SPAM1	6677	broad.mit.edu	36	7	123380903	123380903	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123380903G>A	uc003vle.1	+	c.43G>A	c.(43-45)GTT>ATT	p.V15I	SPAM1_uc003vld.1_Missense_Mutation_p.V15I|SPAM1_uc003vlf.2_Missense_Mutation_p.V15I|SPAM1_uc010lku.1_Missense_Mutation_p.V15I	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	15					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)									0.294118	87.146699	91.682402	35	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123380903	123380903	15489	7	G	A	A	48	48	SPAM1	A	2	2
CUL1	8454	broad.mit.edu	36	7	148115094	148115094	+	Missense_Mutation	SNP	C	G	G			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148115094C>G	uc010lpg.1	+	c.1428C>G	c.(1426-1428)CAC>CAG	p.H476Q	CUL1_uc003wey.1_Missense_Mutation_p.H476Q|CUL1_uc003wez.1_Missense_Mutation_p.H366Q|CUL1_uc003wfa.1_Missense_Mutation_p.H137Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)													0.34375	140.264926	143.02354	44	84	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Missense_Mutation	SNP	148115094	148115094	4214	7	C	G	G	18	18	CUL1	G	3	3
DNAH11	8701	broad.mit.edu	36	7	21570418	21570418	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21570418C>T	uc003svc.1	+	c.1072C>T	c.(1072-1074)CGC>TGC	p.R358C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.255	129.730898	140.622288	51	149	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21570418	21570418	4781	7	C	T	T	19	19	DNAH11	T	1	1
EGFR	1956	broad.mit.edu	36	7	55187768	55187768	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55187768C>T	uc003tqk.1	+	c.664C>T	c.(664-666)CGC>TGC	p.R222C	EGFR_uc003tqh.1_Missense_Mutation_p.R222C|EGFR_uc003tqi.1_Missense_Mutation_p.R222C|EGFR_uc003tqj.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	222	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(10)|p.R222C(2)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.815595	2437.097668	2525.911428	774	175	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55187768	55187768	5156	7	C	T	T	27	27	EGFR	T	1	1
C7orf26	79034	broad.mit.edu	36	7	6596610	6596610	+	Missense_Mutation	SNP	G	C	C			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6596610G>C	uc003sqo.1	+	c.171G>C	c.(169-171)AAG>AAC	p.K57N	C7orf26_uc003sqp.1_Missense_Mutation_p.K57N|C7orf26_uc003sqq.1_5'UTR	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	57										ovary(1)	1		Ovarian(82;0.232)												0.222222	8.588709	9.868322	4	14	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	Missense_Mutation	SNP	6596610	6596610	2488	7	G	C	C	35	35	C7orf26	C	3	3
ENG	2022	broad.mit.edu	36	9	129619257	129619257	+	Missense_Mutation	SNP	T	C	C			TCGA-27-2528-01	TCGA-27-2528-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129619257T>C	uc004bsj.2	-	c.1733A>G	c.(1732-1734)GAC>GGC	p.D578G	ENG_uc004bsk.2_Missense_Mutation_p.D578G	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	578	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction|transforming growth factor beta receptor complex	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														0.5625	64.455022	64.564079	18	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129619257	129619257	5310	9	T	C	C	58	58	ENG	C	4	4
CACNA1B	774	broad.mit.edu	36	9	140126773	140126773	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2528-01	TCGA-27-2528-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140126773A>G	uc004cog.1	+	c.5531A>G	c.(5530-5532)CAT>CGT	p.H1844R	CACNA1B_uc004coi.1_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1844	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.295455	38.358663	40.004875	13	31	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Missense_Mutation	SNP	140126773	140126773	2655	9	A	G	G	8	8	CACNA1B	G	4	4
CXorf22	170063	broad.mit.edu	36	X	35848043	35848043	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2528-01	TCGA-27-2528-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:35848043G>A	uc004ddj.1	+	c.206G>A	c.(205-207)CGC>CAC	p.R69H	CXorf22_uc010ngv.1_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	69										large_intestine(1)|lung(1)|ovary(1)	3														0.627907	85.634592	86.253009	27	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35848043	35848043	4262	23	G	A	A	38	38	CXorf22	A	1	1
RBMY1B	378948	broad.mit.edu	36	Y	22459693	22459693	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2528-01	TCGA-27-2528-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrY:22459693C>T	uc004fuw.2	-	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q	TTTY6_uc004fut.1_Intron|RBMY1D_uc010nxc.1_Intron|RBMY1B_uc010nxd.1_Missense_Mutation_p.R373Q|RBMY1B_uc004fux.2_Missense_Mutation_p.R270Q	NM_001006120	NP_001006118	A6NDE4	RBY1B_HUMAN	RNA binding motif protein, Y-linked, family 1,	410					male gonad development|mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|protein binding|RNA binding				0														0.309091	193.113899	200.262091	68	152	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22459693	22459693	13619	24	C	T	T	23	23	RBMY1B	T	1	1
FRMD4A	55691	broad.mit.edu	36	10	13736457	13736458	+	Frame_Shift_Ins	INS	-	G	G			TCGA-27-2528-01	TCGA-27-2528-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13736457_13736458insG	uc001ims.1	-	c.3014_3015insC	c.(3013-3015)CCAfs	p.P1005fs	FRMD4A_uc009xjf.1_Frame_Shift_Ins_p.P1005fs|PRPF18_uc001imq.2_Intron	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|pancreas(1)	2														0.32			36	77				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	13736457	13736458	6301	10	-	G	G	63	63	FRMD4A	G	5	5
ZNF784	147808	broad.mit.edu	36	19	60825600	60825601	+	Frame_Shift_Ins	INS	-	C	C			TCGA-27-2528-01	TCGA-27-2528-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:60825600_60825601insC	uc002qll.1	-	c.300_301insG	c.(298-303)CCGAGCfs	p.P100fs	ZNF784_uc010etb.1_Frame_Shift_Ins_p.R16fs	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	100_101	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)										0.33			7	14				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	60825600	60825601	18754	19	-	C	C	54	54	ZNF784	C	5	5
GUCY1A3	2982	broad.mit.edu	36	4	156870986	156870989	+	Splice_Site_Del	DEL	ATGT	-	-			TCGA-27-2528-01	TCGA-27-2528-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156870986_156870989delATGT	uc003iov.1	+	c.e11_splice_site			GUCY1A3_uc010iqd.1_3'UTR|GUCY1A3_uc003iow.1_3'UTR|GUCY1A3_uc003iox.1_3'UTR|GUCY1A3_uc003ioy.1_3'UTR|GUCY1A3_uc010iqe.1_3'UTR|GUCY1A3_uc003ioz.1_3'UTR|GUCY1A3_uc003ipa.1_Non-coding_Transcript|GUCY1A3_uc003ipb.1_3'UTR	NM_000856	NP_000847			guanylate cyclase 1, soluble, alpha 3 isoform A						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)										0.62			5	3				---	---	---	---	capture_indel			Splice_Site_Del	DEL	156870986	156870989	7174	4	ATGT	-	-	4	4	GUCY1A3	-	5	5
RAI14	26064	broad.mit.edu	36	5	34846939	34846939	+	Frame_Shift_Del	DEL	G	-	-			TCGA-27-2528-01	TCGA-27-2528-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34846939_34846939delG	uc003jir.1	+	c.516_516delG	c.(514-516)CTGfs	p.L172fs	RAI14_uc010iur.1_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jis.1_Frame_Shift_Del_p.L175fs|RAI14_uc003jit.1_Frame_Shift_Del_p.L172fs	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	172	ANK 5.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.33			188	378				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	34846939	34846939	13468	5	G	-	-	47	47	RAI14	-	5	5
