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
MLL	4297	broad.mit.edu	36	11	117880859	117880859	+	Silent	SNP	A	C	C			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117880859A>C	uc001ptb.1	+	c.9042A>C	c.(9040-9042)TCA>TCC	p.S3014S	MLL_uc001pta.1_Silent_p.S3011S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3011					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)								723				0.219895	109.849438	123.648024	42	149	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	Silent	SNP	117880859	117880859	10010	11	A	C	C	7	7	MLL	C	4	4
AHNAK	79026	broad.mit.edu	36	11	62044813	62044813	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62044813G>A	uc001ntl.1	-	c.13652C>T	c.(13651-13653)CCC>CTC	p.P4551L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4551					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.233645	128.03597	141.935794	50	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62044813	62044813	417	11	G	A	A	43	43	AHNAK	A	2	2
GANAB	23193	broad.mit.edu	36	11	62153315	62153315	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62153315G>A	uc001nua.1	-	c.1929C>T	c.(1927-1929)GCC>GCT	p.A643A	GANAB_uc001ntz.1_5'Flank|GANAB_uc001nub.1_Silent_p.A621A|GANAB_uc001nuc.1_Silent_p.A524A	NM_198335	NP_938149	Q14697	GANAB_HUMAN	alpha glucosidase II alpha subunit isoform 3	621					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)	4						Melanoma(23;1005 1074 15747 18937)								0.194286	80.270658	95.511151	34	141	GG		KEEP	---	---	---	---	capture			Silent	SNP	62153315	62153315	6497	11	G	A	A	39	39	GANAB	A	1	1
C11orf84	144097	broad.mit.edu	36	11	63337845	63337845	+	Silent	SNP	C	G	G			TCGA-28-5213-01	TCGA-28-5213-01	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														0.210526	8.023207	9.472138	4	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	63337845	63337845	1706	11	C	G	G	23	23	C11orf84	G	3	3
MUS81	80198	broad.mit.edu	36	11	65385047	65385047	+	Silent	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65385047C>T	uc001ofv.2	+	c.163C>T	c.(163-165)CTG>TTG	p.L55L	CFL1_uc001ofs.1_5'Flank|CFL1_uc001oft.1_5'Flank|CFL1_uc001ofu.1_5'Flank|MUS81_uc001ofw.2_Non-coding_Transcript|MUS81_uc001ofx.2_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	55					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0														0.183673	34.386573	43.595069	18	80	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.166)	Silent	SNP	65385047	65385047	10382	11	C	T	T	20	20	MUS81	T	2	2
OR2AT4	341152	broad.mit.edu	36	11	74478365	74478365	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74478365G>A	uc001owa.1	-	c.42C>T	c.(40-42)CCC>CCT	p.P14P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.241935	73.491857	81.021704	30	94	GG		KEEP	---	---	---	---	capture			Silent	SNP	74478365	74478365	11393	11	G	A	A	39	39	OR2AT4	A	1	1
UBE3B	89910	broad.mit.edu	36	12	108405771	108405771	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108405771G>A	uc001top.1	+	c.32G>A	c.(31-33)TGG>TAG	p.W11*	UBE3B_uc001tol.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.2_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.2_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001toq.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.2_Nonsense_Mutation_p.W11*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	11					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)	2										668				0.224265	136.413168	155.436833	61	211	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	108405771	108405771	17438	12	G	A	A	47	47	UBE3B	A	5	2
KDM2B	84678	broad.mit.edu	36	12	120364878	120364878	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120364878C>T	uc001uat.1	-	c.2749G>A	c.(2749-2751)GCG>ACG	p.A917T	KDM2B_uc001uas.1_Missense_Mutation_p.A848T|KDM2B_uc009zxe.1_Missense_Mutation_p.A848T|KDM2B_uc001uau.1_Intron|KDM2B_uc009zxf.1_Missense_Mutation_p.A917T|KDM2B_uc001uao.1_Missense_Mutation_p.A165T|KDM2B_uc001uap.1_Non-coding_Transcript|KDM2B_uc001uaq.1_Missense_Mutation_p.A357T|KDM2B_uc001uar.1_Missense_Mutation_p.A508T	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	917					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)	1														0.30303	25.837417	26.980283	10	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120364878	120364878	8431	12	C	T	T	27	27	KDM2B	T	1	1
C12orf35	55196	broad.mit.edu	36	12	32028952	32028952	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32028952A>C	uc001rks.1	+	c.3796A>C	c.(3796-3798)AGC>CGC	p.S1266R	C12orf35_uc001rkt.1_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1266										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.211111	46.273869	53.221289	19	71	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Missense_Mutation	SNP	32028952	32028952	1726	12	A	C	C	3	3	C12orf35	C	4	4
LRP1	4035	broad.mit.edu	36	12	55849190	55849190	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55849190A>G	uc001snd.1	+	c.2996A>G	c.(2995-2997)GAC>GGC	p.D999G	LRP1_uc009zpi.1_Non-coding_Transcript	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	999	Extracellular (Potential).|LDL-receptor class A 6.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.21978	106.10627	119.26603	40	142	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55849190	55849190	9324	12	A	G	G	10	10	LRP1	G	4	4
SACS	26278	broad.mit.edu	36	13	22840617	22840617	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22840617C>A	uc001uon.2	-	c.269G>T	c.(268-270)GGT>GTT	p.G90V	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	90					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)								738				0.18	18.252221	23.061737	9	41	CC		KEEP	---	---	---	---	capture		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	Missense_Mutation	SNP	22840617	22840617	14284	13	C	A	A	18	18	SACS	A	3	3
ATP10A	57194	broad.mit.edu	36	15	23504240	23504240	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23504240G>A	uc010ayu.1	-	c.2551C>T	c.(2551-2553)CTG>TTG	p.L851L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	851	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)								877				0.273973	54.966323	58.32841	20	53	GG		KEEP	---	---	---	---	capture		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	Silent	SNP	23504240	23504240	1135	15	G	A	A	35	35	ATP10A	A	2	2
C16orf90	646174	broad.mit.edu	36	16	3484652	3484652	+	Silent	SNP	G	C	C			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3484652G>C	uc002cvi.1	-	c.273C>G	c.(271-273)GGC>GGG	p.G91G		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	81											0														0.25	8.190586	9.101635	4	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	3484652	3484652	1896	16	G	C	C	34	34	C16orf90	C	3	3
MSLNL	401827	broad.mit.edu	36	16	760250	760250	+	Silent	SNP	G	A	A	rs9745376	unknown	TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:760250G>A	uc002cjz.1	-	c.2736C>T	c.(2734-2736)AAC>AAT	p.N912N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	561	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.257143	21.571014	23.43442	9	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	760250	760250	10275	16	G	A	A	40	40	MSLNL	A	1	1
CDH15	1013	broad.mit.edu	36	16	87788855	87788855	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87788855G>A	uc002fmt.1	+	c.2236G>A	c.(2236-2238)GCG>ACG	p.A746T		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	746	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding				0														0.25641	20.330673	22.431243	10	29	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0261)	Missense_Mutation	SNP	87788855	87788855	3229	16	G	A	A	42	42	CDH15	A	2	2
GRIN2A	2903	broad.mit.edu	36	16	9764548	9764548	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9764548G>A	uc002czp.1	-	c.4354C>T	c.(4354-4356)CGC>TGC	p.R1452C	GRIN2A_uc002czq.1_Missense_Mutation_p.R1452C|GRIN2A_uc002czr.2_3'UTR|GRIN2A_uc002czo.2_5'Flank	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1452	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.242857	80.269197	88.720162	34	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9764548	9764548	7058	16	G	A	A	40	40	GRIN2A	A	1	1
GRIN2A	2903	broad.mit.edu	36	16	9842146	9842146	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9842146G>A	uc002czp.1	-	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	GRIN2A_uc002czq.1_Missense_Mutation_p.R504W|GRIN2A_uc002czr.2_Missense_Mutation_p.R504W	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	504	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.25	54.878551	60.107647	23	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9842146	9842146	7058	16	G	A	A	40	40	GRIN2A	A	1	1
EPN2	22905	broad.mit.edu	36	17	19127608	19127608	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19127608T>C	uc002gvd.2	+	c.583T>C	c.(583-585)TCC>CCC	p.S195P	EPN2_uc010cql.1_Intron|EPN2_uc002gve.2_Missense_Mutation_p.S195P|EPN2_uc002gvf.2_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.S195P|EPN2_uc002gvh.1_Missense_Mutation_p.S195P|EPN2_uc002gvc.2_Missense_Mutation_p.S195P	NM_014964	NP_001096134	O95208	EPN2_HUMAN	epsin 2 isoform b	195					endocytosis		lipid binding				0	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)													0.238095	7.693817	10.606256	10	32	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19127608	19127608	5379	17	T	C	C	54	54	EPN2	C	4	4
DGKE	8526	broad.mit.edu	36	17	52280328	52280328	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:52280328G>T	uc002iur.1	+	c.791G>T	c.(790-792)TGT>TTT	p.C264F	DGKE_uc002ius.1_Missense_Mutation_p.C264F	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	264	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)													0.201878	101.794598	119.391453	43	170	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52280328	52280328	4647	17	G	T	T	48	48	DGKE	T	3	3
PFAS	5198	broad.mit.edu	36	17	8099069	8099069	+	Splice_Site_SNP	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8099069G>A	uc002gkr.1	+	c.279_splice	c.e4-1	p.R93_splice		NM_012393	NP_036525			phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.142857	40.810071	60.603193	23	138	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	8099069	8099069	12176	17	G	A	A	35	35	PFAS	A	5	2
NTN1	9423	broad.mit.edu	36	17	9006929	9006929	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9006929G>A	uc002glw.2	+	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding				0														0.340909	84.424525	86.392285	30	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9006929	9006929	11105	17	G	A	A	39	39	NTN1	A	1	1
MIDN	90007	broad.mit.edu	36	19	1208138	1208138	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1208138G>A	uc002lrp.1	+	c.1274G>A	c.(1273-1275)GGC>GAC	p.G425D		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	425						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)												0.255814	51.505527	56.095891	22	64	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	1208138	1208138	9969	19	G	A	A	42	42	MIDN	A	2	2
FUT3	2525	broad.mit.edu	36	19	5795200	5795200	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5795200G>A	uc002mdk.2	-	c.651C>T	c.(649-651)CTC>CTT	p.L217L	FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L|FUT3_uc010dun.1_Silent_p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	217	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						Esophageal Squamous(82;745 1728 24593 44831)								0.244792	107.924746	119.323138	47	145	GG		KEEP	---	---	---	---	capture			Silent	SNP	5795200	5795200	6356	19	G	A	A	45	45	FUT3	A	2	2
MUC16	94025	broad.mit.edu	36	19	8930909	8930909	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8930909C>A	uc002mkp.1	-	c.17537G>T	c.(17536-17538)AGG>ATG	p.R5846M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5848	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.269504	191.967765	205.492298	76	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8930909	8930909	10367	19	C	A	A	24	24	MUC16	A	3	3
TCHH	7062	broad.mit.edu	36	1	150350594	150350594	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150350594G>A	uc001ezp.2	-	c.1723C>T	c.(1723-1725)CGC>TGC	p.R575C	TCHH_uc009wne.1_Missense_Mutation_p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	575	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.247312	97.144482	107.909984	46	140	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150350594	150350594	16226	1	G	A	A	38	38	TCHH	A	1	1
SPTA1	6708	broad.mit.edu	36	1	156873095	156873095	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156873095C>T	uc001fst.1	-	c.5270G>A	c.(5269-5271)CGC>CAC	p.R1757H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1757	Spectrin 17.				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)													0.218845	153.259101	177.203959	72	257	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156873095	156873095	15630	1	C	T	T	27	27	SPTA1	T	1	1
PYHIN1	149628	broad.mit.edu	36	1	157173505	157173505	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157173505G>A	uc001ftb.1	+	c.181G>A	c.(181-183)GGT>AGT	p.G61S	PYHIN1_uc001fta.2_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.1_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.1_Missense_Mutation_p.G61S|PYHIN1_uc001fte.1_Missense_Mutation_p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	61	DAPIN.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.146552	31.998657	45.92375	17	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157173505	157173505	13323	1	G	A	A	39	39	PYHIN1	A	1	1
KLHDC7A	127707	broad.mit.edu	36	1	18681523	18681523	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18681523G>A	uc001bax.1	+	c.1461G>A	c.(1459-1461)CGG>CGA	p.R487R	KLHDC7A_uc009vpg.1_Silent_p.R269R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	487						integral to membrane				ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)												0.276119	88.912253	94.96481	37	97	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	18681523	18681523	8672	1	G	A	A	42	42	KLHDC7A	A	2	2
HTR6	3362	broad.mit.edu	36	1	19864855	19864855	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19864855A>C	uc001bcl.1	+	c.22A>C	c.(22-24)ACC>CCC	p.T8P		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	8	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	Esophageal Squamous(168;1879 2619 6848 21062)								0.333333	7.617257	7.953657	4	8	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Missense_Mutation	SNP	19864855	19864855	7751	1	A	C	C	2	2	HTR6	C	4	4
IGFN1	91156	broad.mit.edu	36	1	199461632	199461632	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199461632C>T	uc001gwc.1	+	c.2024C>T	c.(2023-2025)ACG>ATG	p.T675M	IGFN1_uc001gwb.1_Non-coding_Transcript	NM_178275	NP_840059			immunoglobulin-like and fibronectin type III											ovary(2)|pancreas(1)	3														0.241379	48.430184	53.741663	21	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199461632	199461632	7891	1	C	T	T	19	19	IGFN1	T	1	1
OR2T33	391195	broad.mit.edu	36	1	246502826	246502826	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246502826G>A	uc001ied.1	-	c.914C>T	c.(913-915)ACG>ATG	p.T305M		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.195	157.564264	192.254239	78	322	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		Missense_Mutation	SNP	246502826	246502826	11430	1	G	A	A	40	40	OR2T33	A	1	1
RSPO1	284654	broad.mit.edu	36	1	37852072	37852072	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37852072G>A	uc001cbl.1	-	c.516C>T	c.(514-516)TCC>TCT	p.S172S	RSPO1_uc009vvf.1_Silent_p.S145S|RSPO1_uc001cbm.1_Silent_p.S172S|RSPO1_uc009vvg.1_Intron	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1	172	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GBM(122;680 2230 27822 42821)								0.307359	192.35489	199.988636	71	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	37852072	37852072	14189	1	G	A	A	39	39	RSPO1	A	1	1
MOBKL2C	148932	broad.mit.edu	36	1	46851216	46851216	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46851216A>G	uc001cqe.2	-	c.521T>C	c.(520-522)ATG>ACG	p.M174T	MOBKL2C_uc001cqf.2_Missense_Mutation_p.M122T	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	122							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.166667	35.489434	46.862113	18	90	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46851216	46851216	10077	1	A	G	G	8	8	MOBKL2C	G	4	4
C1orf177	163747	broad.mit.edu	36	1	55046253	55046253	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55046253G>A	uc001cyb.2	+	c.461G>A	c.(460-462)CGC>CAC	p.R154H	C1orf177_uc001cya.2_Missense_Mutation_p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	154											0														0.247664	124.054832	136.470389	53	161	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55046253	55046253	2084	1	G	A	A	38	38	C1orf177	A	1	1
INADL	10207	broad.mit.edu	36	1	62026064	62026064	+	Silent	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:62026064C>T	uc001dab.1	+	c.900C>T	c.(898-900)AAC>AAT	p.N300N	INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	300	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.223077	65.004885	74.174763	29	101	CC		KEEP	---	---	---	---	capture			Silent	SNP	62026064	62026064	8032	1	C	T	T	19	19	INADL	T	1	1
TAS1R1	80835	broad.mit.edu	36	1	6557492	6557492	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6557492G>A	uc001ant.1	+	c.713G>A	c.(712-714)TGC>TAC	p.C238Y	TAS1R1_uc001anu.1_Intron|TAS1R1_uc001anv.1_Intron|TAS1R1_uc001anw.1_Missense_Mutation_p.C238Y	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	238	Extracellular (Potential).				sensory perception of umami taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)												0.26178	117.050128	126.867979	50	141	GG		KEEP	---	---	---	---	capture		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	6557492	6557492	16084	1	G	A	A	46	46	TAS1R1	A	2	2
PAX1	5075	broad.mit.edu	36	20	21643242	21643242	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21643242C>G	uc002wsj.2	+	c.1124C>G	c.(1123-1125)GCG>GGG	p.A375G		NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	469					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			kidney(1)	1														0.363636	9.594408	9.775308	4	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21643242	21643242	11898	20	C	G	G	27	27	PAX1	G	3	3
MATN4	8785	broad.mit.edu	36	20	43366718	43366718	+	Silent	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43366718G>A	uc002xnn.1	-	c.207C>T	c.(205-207)AAC>AAT	p.N69N	MATN4_uc002xno.1_Silent_p.N69N|MATN4_uc002xnp.1_Silent_p.N69N|MATN4_uc002xnq.1_Silent_p.N69N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.1_5'Flank|RBPJL_uc002xnt.1_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	69	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)												0.178571	35.52415	46.438397	20	92	GG		KEEP	---	---	---	---	capture			Silent	SNP	43366718	43366718	9720	20	G	A	A	40	40	MATN4	A	1	1
LAMA5	3911	broad.mit.edu	36	20	60330553	60330553	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60330553C>T	uc002ycq.1	-	c.6413G>A	c.(6412-6414)AGC>AAC	p.S2138N		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	2138	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.212121	30.006574	35.070575	14	52	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Missense_Mutation	SNP	60330553	60330553	8932	20	C	T	T	28	28	LAMA5	T	2	2
POLR1B	84172	broad.mit.edu	36	2	113032087	113032087	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113032087T>C	uc002thw.1	+	c.1288T>C	c.(1288-1290)TTT>CTT	p.F430L	POLR1B_uc002thx.1_Missense_Mutation_p.F291L|POLR1B_uc002thy.1_Missense_Mutation_p.F291L|POLR1B_uc010fkn.1_Missense_Mutation_p.F374L|POLR1B_uc010fko.1_Intron|POLR1B_uc010fkp.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	430					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						Ovarian(16;256 576 9537 23969 41147)								0.234234	76.794643	83.966024	26	85	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113032087	113032087	12638	2	T	C	C	52	52	POLR1B	C	4	4
TTN	7273	broad.mit.edu	36	2	179119013	179119013	+	Silent	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179119013C>T	uc002umr.1	-	c.87492G>A	c.(87490-87492)CCG>CCA	p.P29164P	TTN_uc002ums.1_Silent_p.P22859P|TTN_uc010frc.1_Silent_p.P22792P|TTN_uc010frd.1_Silent_p.P22667P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30091										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.222222	63.233291	72.178042	28	98	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179119013	179119013	17290	2	C	T	T	27	27	TTN	T	1	1
PNKD	25953	broad.mit.edu	36	2	218914995	218914995	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218914995G>A	uc002vhn.1	+	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	PNKD_uc002vhq.1_Missense_Mutation_p.R198Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	222						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)												0.210884	75.118822	86.428707	31	116	GG		KEEP	---	---	---	---	capture		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	218914995	218914995	12572	2	G	A	A	39	39	PNKD	A	1	1
CCDC85A	114800	broad.mit.edu	36	2	56456536	56456536	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:56456536C>T	uc002rzn.1	+	c.1534C>T	c.(1534-1536)CCT>TCT	p.P512S		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	512										breast(3)|ovary(2)	5														0.214286	59.749909	69.2543	27	99	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		Missense_Mutation	SNP	56456536	56456536	2983	2	C	T	T	18	18	CCDC85A	T	2	2
CASR	846	broad.mit.edu	36	3	123486147	123486147	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123486147C>T	uc003eew.2	+	c.2686C>T	c.(2686-2688)CGG>TGG	p.R896W	CASR_uc003eev.2_Missense_Mutation_p.R886W	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	886	Cytoplasmic (Potential).|Interaction with RNF19A.		R -> W (could be associated with FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4					Cinacalcet(DB01012)									0.282051	55.290324	58.57823	22	56	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.226)	Missense_Mutation	SNP	123486147	123486147	2801	3	C	T	T	23	23	CASR	T	1	1
GHSR	2693	broad.mit.edu	36	3	173648176	173648176	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:173648176C>T	uc003fib.1	-	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	GHSR_uc003fic.1_Missense_Mutation_p.R241Q	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	241	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)					Esophageal Squamous(93;641 1401 20883 29581 34638)								0.204819	38.142555	44.841895	17	66	CC		KEEP	---	---	---	---	capture	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		Missense_Mutation	SNP	173648176	173648176	6643	3	C	T	T	23	23	GHSR	T	1	1
SGOL1	151648	broad.mit.edu	36	3	20200259	20200259	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:20200259T>C	uc003cbs.1	-	c.184A>G	c.(184-186)AAA>GAA	p.K62E	SGOL1_uc003cbr.1_Missense_Mutation_p.K62E|SGOL1_uc010hfa.1_Missense_Mutation_p.K62E|SGOL1_uc003cbt.1_Missense_Mutation_p.K62E|SGOL1_uc003cbu.1_Missense_Mutation_p.K62E|SGOL1_uc003cbv.1_Missense_Mutation_p.K62E|SGOL1_uc003cbw.1_Missense_Mutation_p.K62E|SGOL1_uc003cbx.1_Missense_Mutation_p.K62E|SGOL1_uc003cby.1_Missense_Mutation_p.K62E|SGOL1_uc003cbz.1_Missense_Mutation_p.K62E|SGOL1_uc003cca.1_Missense_Mutation_p.K62E|SGOL1_uc003ccb.1_Missense_Mutation_p.K62E|SGOL1_uc003ccc.1_Missense_Mutation_p.K62E	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	62	Potential.|Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0														0.214286	72.973898	83.526773	30	110	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20200259	20200259	14707	3	T	C	C	63	63	SGOL1	C	4	4
MAPKAPK3	7867	broad.mit.edu	36	3	50630082	50630082	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50630082C>T	uc003day.1	+	c.82C>T	c.(82-84)CCG>TCG	p.P28S	MAPKAPK3_uc003daz.1_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.1_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.P28S	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	28			P -> S (in a glioblastoma multiforme sample; somatic mutation).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.P28S(1)		ovary(1)|central_nervous_system(1)	2										122				0.206704	74.691508	88.956598	37	142	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	Missense_Mutation	SNP	50630082	50630082	9673	3	C	T	T	30	30	MAPKAPK3	T	2	2
WDFY3	23001	broad.mit.edu	36	4	85853337	85853337	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:85853337C>T	uc003hpd.1	-	c.8041G>A	c.(8041-8043)GGA>AGA	p.G2681R	WDFY3_uc003hpe.1_Missense_Mutation_p.G292R	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2681						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)												0.198582	197.822464	233.543554	84	339	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	Missense_Mutation	SNP	85853337	85853337	17842	4	C	T	T	22	22	WDFY3	T	2	2
SLCO6A1	133482	broad.mit.edu	36	5	101862264	101862264	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101862264C>T	uc003knn.2	-	c.184G>A	c.(184-186)GGC>AGC	p.G62S	SLCO6A1_uc003kno.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.1_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.1_Missense_Mutation_p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	62	Cytoplasmic (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)												0.187708	259.733424	314.690608	113	489	CC		KEEP	---	---	---	---	capture		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	Missense_Mutation	SNP	101862264	101862264	15229	5	C	T	T	23	23	SLCO6A1	T	1	1
UGT3A2	167127	broad.mit.edu	36	5	36073860	36073860	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36073860C>T	uc003jjz.1	-	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	364	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.174194	52.531167	68.058886	27	128	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36073860	36073860	17522	5	C	T	T	19	19	UGT3A2	T	1	1
TFAP2B	7021	broad.mit.edu	36	6	50899250	50899250	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50899250C>T	uc003pag.1	+	c.253C>T	c.(253-255)CCC>TCC	p.P85S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	85	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.122449	15.858986	29.513307	12	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50899250	50899250	16316	6	C	T	T	22	22	TFAP2B	T	2	2
FBXO9	26268	broad.mit.edu	36	6	53049247	53049247	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53049247G>C	uc003pbo.1	+	c.284G>C	c.(283-285)CGA>CCA	p.R95P	FBXO9_uc003pbk.1_Missense_Mutation_p.R51P|FBXO9_uc003pbl.1_Missense_Mutation_p.R85P|FBXO9_uc003pbm.1_5'UTR|FBXO9_uc003pbn.1_5'UTR	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	F-box only protein 9 isoform 1	95	TPR.					ubiquitin ligase complex	ubiquitin-protein ligase activity			pancreas(1)	1	Lung NSC(77;0.103)													0.4	8.894721	8.983007	4	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53049247	53049247	5999	6	G	C	C	37	37	FBXO9	C	3	3
C7orf11	136647	broad.mit.edu	36	7	40139242	40139242	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5213-01	TCGA-28-5213-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:40139242T>C	uc003thl.2	-	c.481A>G	c.(481-483)AGC>GGC	p.S161G	C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN	chromosome 7 open reading frame 11	161					cell division|mitosis	microtubule organizing center|nucleus				breast(1)	1														0.170455	111.107932	138.224082	45	219	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40139242	40139242	2484	7	T	C	C	56	56	C7orf11	C	4	4
ADCY1	107	broad.mit.edu	36	7	45684360	45684360	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45684360G>A	uc003tne.2	+	c.1871G>A	c.(1870-1872)GGC>GAC	p.G624D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	brain adenylate cyclase 1	624	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.167155	101.157932	136.973417	57	284	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45684360	45684360	293	7	G	A	A	42	42	ADCY1	A	2	2
SUN3	256979	broad.mit.edu	36	7	48023426	48023426	+	Silent	SNP	A	G	G			TCGA-28-5213-01	TCGA-28-5213-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48023426A>G	uc003tof.1	-	c.246T>C	c.(244-246)TAT>TAC	p.Y82Y	SUN3_uc003tog.1_Silent_p.Y82Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	82						integral to membrane				central_nervous_system(1)	1														0.186916	43.440833	53.262336	20	87	AA		KEEP	---	---	---	---	capture			Silent	SNP	48023426	48023426	15913	7	A	G	G	8	8	SUN3	G	4	4
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	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.G598V(16)		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)			0.187023	89.316796	113.368885	49	213	GG		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	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
ERP44	23071	broad.mit.edu	36	9	101824275	101824275	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:101824275C>T	uc004bam.1	-	c.341G>A	c.(340-342)CGT>CAT	p.R114H	ERP44_uc010msy.1_Non-coding_Transcript|ERP44_uc010msz.1_Missense_Mutation_p.R114H	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	114	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0														0.196721	104.063884	124.970902	48	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101824275	101824275	5436	9	C	T	T	19	19	ERP44	T	1	1
DOCK8	81704	broad.mit.edu	36	9	408102	408102	+	Silent	SNP	G	C	C			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:408102G>C	uc003zgf.1	+	c.3735G>C	c.(3733-3735)TCG>TCC	p.S1245S	DOCK8_uc003zgi.1_Silent_p.S1177S|DOCK8_uc010mgu.1_Silent_p.S547S|DOCK8_uc010mgv.1_Silent_p.S1145S|DOCK8_uc003zgk.1_Silent_p.S703S	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1245					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)												0.139535	7.991425	18.921564	12	74	GG		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Silent	SNP	408102	408102	4877	9	G	C	C	39	39	DOCK8	C	3	3
TRPM3	80036	broad.mit.edu	36	9	72403244	72403244	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72403244C>T	uc004aid.1	-	c.2923G>A	c.(2923-2925)GTG>ATG	p.V975M	TRPM3_uc004ahu.1_Missense_Mutation_p.V805M|TRPM3_uc004ahv.1_Missense_Mutation_p.V777M|TRPM3_uc004ahw.1_Missense_Mutation_p.V847M|TRPM3_uc004ahx.1_Missense_Mutation_p.V834M|TRPM3_uc004ahy.1_Missense_Mutation_p.V837M|TRPM3_uc004ahz.1_Missense_Mutation_p.V824M|TRPM3_uc004aia.1_Missense_Mutation_p.V822M|TRPM3_uc004aib.1_Missense_Mutation_p.V812M|TRPM3_uc004aic.2_Missense_Mutation_p.V975M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1000	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.227437	142.526903	161.383845	63	214	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72403244	72403244	17138	9	C	T	T	19	19	TRPM3	T	1	1
NR0B1	190	broad.mit.edu	36	X	30237120	30237120	+	Silent	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30237120C>T	uc004dcf.2	-	c.282G>A	c.(280-282)CCG>CCA	p.P94P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|basal transcription repressor activity|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)									0.339623	49.235198	50.439593	18	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	30237120	30237120	11018	23	C	T	T	31	31	NR0B1	T	1	1
KIAA2022	340533	broad.mit.edu	36	X	73879675	73879675	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5213-01	TCGA-28-5213-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:73879675C>T	uc004eby.1	-	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	481					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.317073	34.759159	35.979697	13	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73879675	73879675	8580	23	C	T	T	31	31	KIAA2022	T	1	1
ZNF711	7552	broad.mit.edu	36	X	84412580	84412580	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5213-01	TCGA-28-5213-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84412580G>A	uc004eeq.1	+	c.1514G>A	c.(1513-1515)AGT>AAT	p.S505N	ZNF711_uc004eeo.1_Missense_Mutation_p.S459N|ZNF711_uc004eep.1_Missense_Mutation_p.S459N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	459					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.307692	6.783731	7.219526	4	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84412580	84412580	18712	23	G	A	A	36	36	ZNF711	A	2	2
FBXL12	54850	broad.mit.edu	36	19	9790295	9790296	+	Splice_Site_Ins	INS	-	G	G			TCGA-28-5213-01	TCGA-28-5213-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9790295_9790296insG	uc002mme.1	-	c.e2_splice_site			FBXL12_uc002mmd.1_5'UTR|FBXL12_uc002mmf.1_Splice_Site_Ins|FBXL12_uc002mmg.1_Splice_Site_Ins|FBXL12_uc002mmh.1_Splice_Site_Ins	NM_017703	NP_060173			F-box and leucine-rich repeat protein 12								protein binding			lung(1)|kidney(1)	2														0.40			4	6				---	---	---	---	capture_indel			Splice_Site_Ins	INS	9790295	9790296	5945	19	-	G	G	55	55	FBXL12	G	5	5
