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
AGAP7	653268	broad.mit.edu	36	10	51135423	51135423	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:51135423C>T	uc001jio.1	-	c.1039G>A	c.(1039-1041)GGG>AGG	p.G347R	PARG_uc001jih.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	347	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0														0.78022	244.2754	250.865447	71	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51135423	51135423	375	10	C	T	T	23	23	AGAP7	T	1	1
MUC6	4588	broad.mit.edu	36	11	1015025	1015025	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1015025G>A	uc001lsw.2	-	c.3044C>T	c.(3043-3045)ACG>ATG	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)												0.321429	23.764783	24.558028	9	19	GG		KEEP	---	---	---	---	capture		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1015025	1015025	10374	11	G	A	A	40	40	MUC6	A	1	1
NAV2	89797	broad.mit.edu	36	11	19912306	19912306	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:19912306C>T	uc009yhw.1	+	c.2009C>T	c.(2008-2010)ACC>ATC	p.T670I	NAV2_uc001mpp.1_Missense_Mutation_p.T583I|NAV2_uc001mpr.2_Missense_Mutation_p.T647I	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	670						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.45283	75.198929	75.300816	24	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19912306	19912306	10580	11	C	T	T	18	18	NAV2	T	2	2
NOS1	4842	broad.mit.edu	36	12	116194711	116194711	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116194711G>A	uc001twm.1	-	c.1701C>T	c.(1699-1701)TAC>TAT	p.Y567Y		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	567					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.542857	56.930742	56.987744	19	16	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.0561)	Silent	SNP	116194711	116194711	10944	12	G	A	A	40	40	NOS1	A	1	1
GPR109B	8843	broad.mit.edu	36	12	121766175	121766175	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121766175G>A	uc001ucy.2	-	c.1063C>T	c.(1063-1065)CCC>TCC	p.P355S	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	G109B_HUMAN	G protein-coupled receptor 109B	355	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				Mepenzolate(DB04843)|Niacin(DB00627)									0.417476	135.081481	135.698234	43	60	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Missense_Mutation	SNP	121766175	121766175	6900	12	G	A	A	43	43	GPR109B	A	2	2
PIK3C2G	5288	broad.mit.edu	36	12	18549664	18549664	+	Splice_Site_SNP	SNP	T	C	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18549664T>C	uc001rds.1	+	c.3200_splice	c.e23+2	p.R1067_splice	PIK3C2G_uc001rdt.1_Splice_Site_SNP_p.R1067_splice	NM_004570	NP_004561			phosphoinositide-3-kinase, class 2, gamma						cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.4375	24.3233	24.377693	7	9	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	18549664	18549664	12335	12	T	C	C	58	58	PIK3C2G	C	5	4
KRT6B	3854	broad.mit.edu	36	12	51127379	51127379	+	Silent	SNP	A	G	G			TCGA-76-6285-01	TCGA-76-6285-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51127379A>G	uc001sak.1	-	c.1557T>C	c.(1555-1557)AGT>AGC	p.S519S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	519	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2														0.372093	50.689422	51.30719	16	27	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.083)	Silent	SNP	51127379	51127379	8796	12	A	G	G	6	6	KRT6B	G	4	4
KRT72	140807	broad.mit.edu	36	12	51281261	51281261	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51281261G>A	uc001saq.1	-	c.243C>T	c.(241-243)AGC>AGT	p.S81S	KRT72_uc001sar.1_Silent_p.S81S	NM_080747	NP_542785	Q14CN4	K2C72_HUMAN	keratin 72	81	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6														0.545455	17.751742	17.771824	6	5	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.195)	Silent	SNP	51281261	51281261	8800	12	G	A	A	38	38	KRT72	A	1	1
GPR182	11318	broad.mit.edu	36	12	55675885	55675885	+	Nonsense_Mutation	SNP	G	T	T			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55675885G>T	uc001smk.1	+	c.625G>T	c.(625-627)GAA>TAA	p.E209*	GPR182_uc009zpb.1_Nonsense_Mutation_p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	209	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.37037	28.641917	29.041026	10	17	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55675885	55675885	6952	12	G	T	T	45	45	GPR182	T	5	3
NR2C1	7181	broad.mit.edu	36	12	93969811	93969811	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:93969811C>A	uc001tdm.2	-	c.823G>T	c.(823-825)GTG>TTG	p.V275L	NR2C1_uc001tdn.2_Missense_Mutation_p.V275L|NR2C1_uc001tdo.2_Missense_Mutation_p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	275					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1														0.459459	53.467767	53.521066	17	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93969811	93969811	11027	12	C	A	A	17	17	NR2C1	A	3	3
EML5	161436	broad.mit.edu	36	14	88200600	88200600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:88200600C>T	uc001xxg.1	-	c.3399G>A	c.(3397-3399)TGG>TGA	p.W1133*	EML5_uc001xxh.1_Nonsense_Mutation_p.W272*|EML5_uc001xxf.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1133						cytoplasm|microtubule				ovary(3)	3														0.866667	95.171682	99.085833	26	4	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	88200600	88200600	5292	14	C	T	T	22	22	EML5	T	5	2
HS3ST4	9951	broad.mit.edu	36	16	26054654	26054654	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:26054654C>T	uc002dof.1	+	c.955C>T	c.(955-957)CGG>TGG	p.R319W		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	319	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2														0.410256	197.694823	198.785042	64	92	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0988)	Missense_Mutation	SNP	26054654	26054654	7661	16	C	T	T	23	23	HS3ST4	T	1	1
ZNF48	197407	broad.mit.edu	36	16	30317332	30317332	+	Silent	SNP	G	C	C			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30317332G>C	uc002dya.1	+	c.1260G>C	c.(1258-1260)TCG>TCC	p.S420S	ZNF48_uc002dxz.1_Silent_p.S297S	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	420	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.272727	23.164311	24.698431	9	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	30317332	30317332	18528	16	G	C	C	39	39	ZNF48	C	3	3
ACACA	31	broad.mit.edu	36	17	32705265	32705265	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32705265G>A	uc002hno.1	-	c.940C>T	c.(940-942)CGT>TGT	p.R314C	ACACA_uc002hnk.1_Missense_Mutation_p.R199C|ACACA_uc002hnl.1_Missense_Mutation_p.R219C|ACACA_uc002hnm.1_Missense_Mutation_p.R277C|ACACA_uc002hnn.1_Missense_Mutation_p.R277C|ACACA_uc010cuz.1_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	NM_198834	NP_942135	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	277	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.74	118.686659	121.297806	37	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32705265	32705265	107	17	G	A	A	40	40	ACACA	A	1	1
AOC2	314	broad.mit.edu	36	17	38250878	38250878	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38250878G>A	uc002ibu.1	+	c.709G>A	c.(709-711)GTG>ATG	p.V237M	AOC2_uc002ibt.1_Missense_Mutation_p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	237					catecholamine metabolic process|oxidation-reduction process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)												0.787234	118.795602	122.37717	37	10	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.156)	Missense_Mutation	SNP	38250878	38250878	737	17	G	A	A	40	40	AOC2	A	1	1
PECAM1	5175	broad.mit.edu	36	17	59794312	59794312	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59794312T>C	uc002jeg.1	-	c.1153A>G	c.(1153-1155)ATC>GTC	p.I385V		NM_000442	NP_000433	P16284	PECA1_HUMAN	platelet/endothelial cell adhesion molecule	385	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding				0														0.45283	173.79804	174.002108	48	58	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;1.28e-12)		Missense_Mutation	SNP	59794312	59794312	12136	17	T	C	C	49	49	PECAM1	C	4	4
MIDN	90007	broad.mit.edu	36	19	1208154	1208154	+	Missense_Mutation	SNP	T	G	G			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1208154T>G	uc002lrp.1	+	c.1290T>G	c.(1288-1290)AGT>AGG	p.S430R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	430						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)												0.490566	81.337679	81.341949	26	27	TT		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	1208154	1208154	9969	19	T	G	G	57	57	MIDN	G	4	4
LTBP4	8425	broad.mit.edu	36	19	45821803	45821803	+	Missense_Mutation	SNP	G	C	C			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45821803G>C	uc002ooh.1	+	c.4009G>C	c.(4009-4011)GTC>CTC	p.V1337L	LTBP4_uc002oog.1_Missense_Mutation_p.V1300L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1270L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1337	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1														0.75	22.454056	22.908521	6	2	GG		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45821803	45821803	9452	19	G	C	C	40	40	LTBP4	C	3	3
HNRNPCL1	343069	broad.mit.edu	36	1	12830626	12830626	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12830626G>A	uc009vno.1	-	c.104C>T	c.(103-105)GCG>GTG	p.A35V	HNRNPCL1_uc001aul.1_Missense_Mutation_p.A35V	NM_001013631	NP_001013653	O60812	HNRCL_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	35	RRM.					ribonucleoprotein complex	nucleotide binding				0														0.232258	83.055191	93.210884	36	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12830626	12830626	7555	1	G	A	A	38	38	HNRNPCL1	A	1	1
FLG	2312	broad.mit.edu	36	1	150542309	150542309	+	Nonsense_Mutation	SNP	C	A	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150542309C>A	uc001ezu.1	-	c.11677G>T	c.(11677-11679)GAG>TAG	p.E3893*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.394366	74.267372	74.965391	28	43	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Nonsense_Mutation	SNP	150542309	150542309	6160	1	C	A	A	30	30	FLG	A	5	3
CD1D	912	broad.mit.edu	36	1	156420450	156420450	+	Splice_Site_SNP	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156420450G>A	uc001frr.1	+	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.1_Splice_Site_SNP_p.T236_splice	NM_001766	NP_001757			CD1D antigen precursor						antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding|receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.388535	173.340002	175.048459	61	96	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	156420450	156420450	3104	1	G	A	A	40	40	CD1D	A	5	1
SH3BP5L	80851	broad.mit.edu	36	1	247072955	247072955	+	Nonsense_Mutation	SNP	C	A	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:247072955C>A	uc001iew.1	-	c.949G>T	c.(949-951)GAG>TAG	p.E317*	SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	317											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)												0.388889	19.221205	19.415738	7	11	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		Nonsense_Mutation	SNP	247072955	247072955	14739	1	C	A	A	30	30	SH3BP5L	A	5	3
CSMD2	114784	broad.mit.edu	36	1	33896146	33896146	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33896146C>T	uc001bxm.1	-	c.4434G>A	c.(4432-4434)CCG>CCA	p.P1478P	CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1438	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.486842	108.444078	108.456278	37	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	33896146	33896146	4086	1	C	T	T	27	27	CSMD2	T	1	1
TIE1	7075	broad.mit.edu	36	1	43547385	43547385	+	Missense_Mutation	SNP	T	A	A			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43547385T>A	uc001ciu.1	+	c.1184T>A	c.(1183-1185)CTC>CAC	p.L395H	TIE1_uc009vwq.1_Missense_Mutation_p.L351H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	395	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.269231	15.309479	16.562522	7	19	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43547385	43547385	16421	1	T	A	A	54	54	TIE1	A	4	4
C8A	731	broad.mit.edu	36	1	57114417	57114417	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57114417C>T	uc001cyo.1	+	c.411C>T	c.(409-411)GAC>GAT	p.D137D		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	137	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.454545	73.131423	73.234226	25	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	57114417	57114417	2525	1	C	T	T	19	19	C8A	T	1	1
CRNKL1	51340	broad.mit.edu	36	20	19981098	19981098	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19981098C>T	uc002wrs.1	-	c.372G>A	c.(370-372)CCG>CCA	p.P124P	C20orf26_uc010gcw.1_5'Flank|C20orf26_uc002wru.1_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	124					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.536585	72.456234	72.504527	22	19	CC		KEEP	---	---	---	---	capture			Silent	SNP	19981098	19981098	4030	20	C	T	T	23	23	CRNKL1	T	1	1
TGM3	7053	broad.mit.edu	36	20	2246127	2246127	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2246127G>A	uc002wfx.2	+	c.979G>A	c.(979-981)GTA>ATA	p.V327I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	327					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)	8					L-Glutamine(DB00130)									0.418605	162.729759	163.475171	54	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2246127	2246127	16359	20	G	A	A	40	40	TGM3	A	1	1
CD93	22918	broad.mit.edu	36	20	23013129	23013129	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:23013129G>A	uc002wsv.1	-	c.1701C>T	c.(1699-1701)TCC>TCT	p.S567S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	567	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	integral to membrane|plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)													0.342105	73.316099	74.995273	26	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	23013129	23013129	3175	20	G	A	A	39	39	CD93	A	1	1
PREX1	57580	broad.mit.edu	36	20	46695896	46695896	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46695896T>C	uc002xtw.1	-	c.3412A>G	c.(3412-3414)AGG>GGG	p.R1138G	PREX1_uc002xtv.1_Missense_Mutation_p.R435G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1138					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.736842	97.215536	99.142489	28	10	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46695896	46695896	12919	20	T	C	C	55	55	PREX1	C	4	4
PRIC285	85441	broad.mit.edu	36	20	61667500	61667500	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61667500G>A	uc002yfm.2	-	c.3119C>T	c.(3118-3120)GCG>GTG	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)													0.555556	29.949769	29.99811	10	8	GG		KEEP	---	---	---	---	capture	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		Missense_Mutation	SNP	61667500	61667500	12928	20	G	A	A	38	38	PRIC285	A	1	1
BAGE2	85319	broad.mit.edu	36	21	10119458	10119458	+	Silent	SNP	A	T	T			TCGA-76-6285-01	TCGA-76-6285-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:10119458A>T	uc002yit.1	-	c.75T>A	c.(73-75)CCT>CCA	p.P25P	BAGE2_uc002yiu.1_Silent_p.P25P|BAGE_uc002yiv.1_Silent_p.P25P|BAGE_uc002yix.2_Non-coding_Transcript	NM_182482	NP_872288			B melanoma antigen family, member 2												0														0.128571	15.430481	24.833228	9	61	AA		KEEP	---	---	---	---	capture	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	Silent	SNP	10119458	10119458	1313	21	A	T	T	7	7	BAGE2	T	4	4
IL17RA	23765	broad.mit.edu	36	22	15966805	15966805	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15966805G>A	uc002zly.1	+	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I	IL17RA_uc010gqt.1_Intron	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	336	Helical; (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.59375	60.126573	60.371697	19	13	GG		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Missense_Mutation	SNP	15966805	15966805	7940	22	G	A	A	40	40	IL17RA	A	1	1
MYO18B	84700	broad.mit.edu	36	22	24489232	24489232	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:24489232C>T	uc003abz.1	+	c.74C>T	c.(73-75)TCG>TTG	p.S25L	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	25						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12									p.S25L(EBC1-Tumor)|p.S25L(SNU308-Tumor)|p.S25L(YD38-Tumor)|p.S25L(FUOV1-Tumor)|p.S25L(KMRC20-Tumor)|p.S25L(RCM1-Tumor)	968				0.4	37.195404	37.457339	12	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24489232	24489232	10461	22	C	T	T	31	31	MYO18B	T	1	1
FAM109B	150368	broad.mit.edu	36	22	40803521	40803521	+	Missense_Mutation	SNP	C	G	G			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40803521C>G	uc003bbz.1	+	c.278C>G	c.(277-279)GCC>GGC	p.A93G	FAM109B_uc010gyt.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.1_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	93	PH.					clathrin-coated vesicle|early endosome|Golgi apparatus|recycling endosome					0														0.680851	113.629839	115.021366	32	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40803521	40803521	5592	22	C	G	G	26	26	FAM109B	G	3	3
ANAPC1	64682	broad.mit.edu	36	2	112308665	112308665	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112308665C>T	uc002thi.1	-	c.2371G>A	c.(2371-2373)GTT>ATT	p.V791I		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	791					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm					0														0.119403	8.749221	18.279358	8	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112308665	112308665	601	2	C	T	T	19	19	ANAPC1	T	1	1
SP3	6670	broad.mit.edu	36	2	174528481	174528481	+	Silent	SNP	A	G	G			TCGA-76-6285-01	TCGA-76-6285-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:174528481A>G	uc002uig.1	-	c.1005T>C	c.(1003-1005)TCT>TCC	p.S335S	SP3_uc002uie.1_Silent_p.S267S|SP3_uc002uif.1_Silent_p.S282S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	335					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|transcription activator activity|transcription repressor activity|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6														0.416058	199.55638	200.39809	57	80	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.185)		Silent	SNP	174528481	174528481	15465	2	A	G	G	3	3	SP3	G	4	4
GPR1	2825	broad.mit.edu	36	2	206749511	206749511	+	Nonsense_Mutation	SNP	G	A	A	rs34685097	unknown	TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206749511G>A	uc002vbl.2	-	c.706C>T	c.(706-708)CGA>TGA	p.R236*	GPR1_uc010fue.1_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.1_Nonsense_Mutation_p.R236*|GPR1_uc010fug.1_Nonsense_Mutation_p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	236	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)												0.428571	77.076684	77.363529	27	36	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	Nonsense_Mutation	SNP	206749511	206749511	6895	2	G	A	A	38	38	GPR1	A	5	1
COPS7B	64708	broad.mit.edu	36	2	232361591	232361591	+	Missense_Mutation	SNP	A	T	T			TCGA-76-6285-01	TCGA-76-6285-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232361591A>T	uc002vsg.1	+	c.67A>T	c.(67-69)AGT>TGT	p.S23C	COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsh.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN	COP9 constitutive photomorphogenic homolog	23						cytoplasm|signalosome				ovary(1)|liver(1)|skin(1)	3		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)												0.490566	83.248088	83.252206	26	27	AA		KEEP	---	---	---	---	capture		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	Missense_Mutation	SNP	232361591	232361591	3877	2	A	T	T	7	7	COPS7B	T	4	4
TRH	7200	broad.mit.edu	36	3	131178714	131178714	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131178714C>T	uc003enc.1	+	c.694C>T	c.(694-696)CGG>TGG	p.R232W		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						Esophageal Squamous(60;321 1330 17401 41911)								0.451613	39.3178	39.383983	14	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131178714	131178714	17022	3	C	T	T	27	27	TRH	T	1	1
CNTN6	27255	broad.mit.edu	36	3	1314608	1314608	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:1314608C>T	uc003boz.1	+	c.694C>T	c.(694-696)CGT>TGT	p.R232C	CNTN6_uc010hbo.1_Missense_Mutation_p.R227C|CNTN6_uc003bpa.1_Missense_Mutation_p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)								1038				0.264	83.310027	89.617817	33	92	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	Missense_Mutation	SNP	1314608	1314608	3783	3	C	T	T	27	27	CNTN6	T	1	1
FBLN2	2199	broad.mit.edu	36	3	13588046	13588046	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13588046C>A	uc003bya.1	+	c.1190C>A	c.(1189-1191)GCC>GAC	p.A397D	FBLN2_uc003byb.1_Missense_Mutation_p.A397D	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	397	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.210526	9.388842	10.862129	4	15	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Missense_Mutation	SNP	13588046	13588046	5935	3	C	A	A	26	26	FBLN2	A	3	3
HLTF	6596	broad.mit.edu	36	3	150250795	150250795	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:150250795C>T	uc003ewq.1	-	c.1531G>A	c.(1531-1533)GGT>AGT	p.G511S	HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	511	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding				0														0.322222	81.640447	84.167908	29	61	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Missense_Mutation	SNP	150250795	150250795	7506	3	C	T	T	21	21	HLTF	T	2	2
RPS3A	6189	broad.mit.edu	36	4	152243588	152243588	+	Missense_Mutation	SNP	A	C	C			TCGA-76-6285-01	TCGA-76-6285-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:152243588A>C	uc003ilz.1	+	c.470A>C	c.(469-471)CAG>CCG	p.Q157P	SNORD73A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	ribosomal protein S3a	157					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_hematologic(180;0.093)													0.166667	6.413733	8.309806	3	15	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152243588	152243588	14124	4	A	C	C	7	7	RPS3A	C	4	4
ACCN5	51802	broad.mit.edu	36	4	156984357	156984357	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156984357C>A	uc003ipe.1	-	c.787G>T	c.(787-789)GTG>TTG	p.V263L		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	263	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.676471	76.132853	77.07145	23	11	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	Missense_Mutation	SNP	156984357	156984357	133	4	C	A	A	18	18	ACCN5	A	3	3
SLC27A6	28965	broad.mit.edu	36	5	128396853	128396853	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:128396853G>T	uc003kuy.1	+	c.1839G>T	c.(1837-1839)ATG>ATT	p.M613I	SLC27A6_uc003kuz.1_Missense_Mutation_p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	613					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)												0.413043	58.069575	58.383688	19	27	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	Missense_Mutation	SNP	128396853	128396853	15027	5	G	T	T	48	48	SLC27A6	T	3	3
ITGA2	3673	broad.mit.edu	36	5	52379999	52379999	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:52379999C>T	uc003joy.1	+	c.437C>T	c.(436-438)ACG>ATG	p.T146M		NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	146	Extracellular (Potential).|FG-GAP 2.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.322581	55.678253	57.411155	20	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52379999	52379999	8179	5	C	T	T	19	19	ITGA2	T	1	1
ACTBL2	345651	broad.mit.edu	36	5	56814180	56814180	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56814180G>A	uc003jrm.1	-	c.112C>T	c.(112-114)CGT>TGT	p.R38C		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	38						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)												0.333333	20.689932	21.281384	8	16	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	Missense_Mutation	SNP	56814180	56814180	195	5	G	A	A	38	38	ACTBL2	A	1	1
TAS2R1	50834	broad.mit.edu	36	5	9682468	9682468	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:9682468G>A	uc003jem.1	-	c.677C>T	c.(676-678)GCG>GTG	p.A226V		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	226	Helical; Name=6; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.425532	59.792587	60.019832	20	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9682468	9682468	16087	5	G	A	A	38	38	TAS2R1	A	1	1
TPD52L1	7164	broad.mit.edu	36	6	125582942	125582942	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:125582942G>A	uc003pzu.1	+	c.39G>A	c.(37-39)CCG>CCA	p.P13P	TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	13					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0														0.833333	104.07302	107.866038	30	6	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	Silent	SNP	125582942	125582942	16942	6	G	A	A	40	40	TPD52L1	A	1	1
LAMA2	3908	broad.mit.edu	36	6	129555539	129555539	+	Missense_Mutation	SNP	T	G	G			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129555539T>G	uc003qbn.1	+	c.1630T>G	c.(1630-1632)TAT>GAT	p.Y544D	LAMA2_uc003qbo.1_Missense_Mutation_p.Y544D|LAMA2_uc010kfe.1_Missense_Mutation_p.Y544D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	544	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.4	9.295713	9.383159	4	6	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129555539	129555539	8929	6	T	G	G	57	57	LAMA2	G	4	4
SYNJ2	8871	broad.mit.edu	36	6	158374490	158374490	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158374490C>T	uc003qqx.1	+	c.501C>T	c.(499-501)CAC>CAT	p.H167H	SYNJ2_uc003qqw.1_Silent_p.H167H|SYNJ2_uc003qqy.1_De_novo_Start_OutOfFrame|SYNJ2_uc010kjo.1_Silent_p.H116H	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	167	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.733333	33.921487	34.655699	11	4	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Silent	SNP	158374490	158374490	15974	6	C	T	T	19	19	SYNJ2	T	1	1
SYNJ2	8871	broad.mit.edu	36	6	158403037	158403037	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158403037C>T	uc003qqx.1	+	c.980C>T	c.(979-981)GCG>GTG	p.A327V	SYNJ2_uc003qqw.1_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.1_Missense_Mutation_p.A87V|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	327	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.75	266.772265	273.108461	84	28	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158403037	158403037	15974	6	C	T	T	27	27	SYNJ2	T	1	1
AGPAT4	56895	broad.mit.edu	36	6	161507279	161507279	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:161507279C>T	uc003qtr.1	-	c.339G>A	c.(337-339)GGG>GGA	p.G113G	AGPAT4_uc003qts.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	113					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)												0.818182	26.475015	27.519196	9	2	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	Silent	SNP	161507279	161507279	392	6	C	T	T	26	26	AGPAT4	T	2	2
HLA-DOA	3111	broad.mit.edu	36	6	33083102	33083102	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33083102G>A	uc003ocr.1	-	c.577C>T	c.(577-579)CAC>TAC	p.H193Y	HLA-DOA_uc010jui.1_Missense_Mutation_p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	193	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0														0.431579	113.175286	113.558699	41	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33083102	33083102	7491	6	G	A	A	46	46	HLA-DOA	A	2	2
TBX18	9096	broad.mit.edu	36	6	85503593	85503593	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:85503593C>T	uc003pkl.1	-	c.1353G>A	c.(1351-1353)CCG>CCA	p.P451P	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	451					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)								300				0.71875	68.08684	69.448639	23	9	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0267)	Silent	SNP	85503593	85503593	16179	6	C	T	T	27	27	TBX18	T	1	1
RELN	5649	broad.mit.edu	36	7	103128619	103128619	+	Silent	SNP	C	T	T			TCGA-76-6285-01	TCGA-76-6285-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:103128619C>T	uc003vca.1	-	c.876G>A	c.(874-876)GCG>GCA	p.A292A	RELN_uc010liz.1_Silent_p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.220588	76.497442	86.257255	30	106	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Silent	SNP	103128619	103128619	13689	7	C	T	T	23	23	RELN	T	1	1
SPAM1	6677	broad.mit.edu	36	7	123382369	123382369	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123382369G>A	uc003vle.1	+	c.1037G>A	c.(1036-1038)CGA>CAA	p.R346Q	SPAM1_uc003vld.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.2_Missense_Mutation_p.R346Q|SPAM1_uc010lku.1_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 1	346					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)									0.226415	120.295691	134.859451	48	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123382369	123382369	15489	7	G	A	A	37	37	SPAM1	A	1	1
CHRM2	1129	broad.mit.edu	36	7	136351240	136351240	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:136351240G>A	uc003vtf.1	+	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc010lmw.1_Missense_Mutation_p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	363	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.2125	36.939405	43.047131	17	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136351240	136351240	3511	7	G	A	A	38	38	CHRM2	A	1	1
TYW1	55253	broad.mit.edu	36	7	66169796	66169796	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:66169796G>A	uc003tvn.1	+	c.1245G>A	c.(1243-1245)GCG>GCA	p.A415A	TYW1_uc010lai.1_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	415					oxidation-reduction process|tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0		Lung NSC(55;0.0846)|all_lung(88;0.183)								1				0.391667	136.898032	138.13134	47	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	66169796	66169796	17375	7	G	A	A	40	40	TYW1	A	1	1
EIF3E	3646	broad.mit.edu	36	8	109309723	109309723	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:109309723T>C	uc003ymu.1	-	c.671A>G	c.(670-672)AAT>AGT	p.N224S	EIF3E_uc003ymt.1_Missense_Mutation_p.N175S|EIF3E_uc003ymv.1_Missense_Mutation_p.N131S|EIF3E_uc010mci.1_Missense_Mutation_p.N224S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	224					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding|translation initiation factor activity			ovary(2)|kidney(1)	3						GBM(15;360 410 8460 34179 52246)								0.402299	119.409698	120.135355	35	52	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		Missense_Mutation	SNP	109309723	109309723	5206	8	T	C	C	52	52	EIF3E	C	4	4
METTL11A	28989	broad.mit.edu	36	9	131434796	131434796	+	De_novo_Start_OutOfFrame	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:131434796G>A	uc004byd.1	+	c.-7G>A	c.(-9--5)TGGTG>TGATG		METTL11A_uc010myw.1_Non-coding_Transcript	NM_014064	NP_054783			methyltransferase like 11A						chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0														0.36	26.471012	26.901125	9	16	GG		KEEP	---	---	---	---	capture			De_novo_Start_OutOfFrame	SNP	131434796	131434796	9884	9	G	A	A	44	44	METTL11A	A	5	2
ANKRD20A3	441425	broad.mit.edu	36	9	67554944	67554944	+	Silent	SNP	G	T	T	rs1060854	unknown	TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:67554944G>T	uc004aeu.1	+	c.1272G>T	c.(1270-1272)ACG>ACT	p.T424T	ANKRD20A3_uc010mnn.1_Silent_p.T423T	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	424											0														0.21978	53.36183	59.934235	20	71	GG		KEEP	---	---	---	---	capture			Silent	SNP	67554944	67554944	654	9	G	T	T	40	40	ANKRD20A3	T	3	3
USP51	158880	broad.mit.edu	36	X	55531367	55531367	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6285-01	TCGA-76-6285-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55531367T>C	uc004dun.1	-	c.731A>G	c.(730-732)AAC>AGC	p.N244S	USP51_uc010nke.1_Missense_Mutation_p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	244	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1														0.9	106.955306	111.747123	27	3	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55531367	55531367	17647	23	T	C	C	60	60	USP51	C	4	4
POF1B	79983	broad.mit.edu	36	X	84448870	84448870	+	Silent	SNP	G	A	A			TCGA-76-6285-01	TCGA-76-6285-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84448870G>A	uc004ees.2	-	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y	POF1B_uc004eer.2_Silent_p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	373	Potential.						actin binding				0														0.809524	56.985441	58.865504	17	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	84448870	84448870	12610	23	G	A	A	40	40	POF1B	A	1	1
