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
ATRNL1	26033	broad.mit.edu	36	10	117051465	117051465	+	Nonsense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:117051465C>T	uc001lcg.1	+	c.2740C>T	c.(2740-2742)CGA>TGA	p.R914*		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1	914	PSI 4.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)												0.442529	231.855928	232.35574	77	97	CC		KEEP	---	---	---	---	capture		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	Nonsense_Mutation	SNP	117051465	117051465	1226	10	C	T	T	19	19	ATRNL1	T	5	1
FANK1	92565	broad.mit.edu	36	10	127575202	127575202	+	Missense_Mutation	SNP	A	T	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127575202A>T	uc009yan.1	+	c.1A>T	c.(1-3)ATG>TTG	p.M1L	DHX32_uc001ljg.1_5'Flank|FANK1_uc001ljh.2_Missense_Mutation_p.M1L	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	1						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)												0.181818	7.988644	10.079842	4	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127575202	127575202	5908	10	A	T	T	8	8	FANK1	T	4	4
KIAA1462	57608	broad.mit.edu	36	10	30355270	30355270	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30355270C>T	uc009xle.1	-	c.3813G>A	c.(3811-3813)ATG>ATA	p.M1271I	KIAA1462_uc001iuz.2_Missense_Mutation_p.M1133I|KIAA1462_uc001iux.2_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1271										ovary(4)	4														0.462185	167.111591	167.259954	55	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30355270	30355270	8543	10	C	T	T	29	29	KIAA1462	T	2	2
RET	5979	broad.mit.edu	36	10	42924503	42924503	+	Missense_Mutation	SNP	A	T	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42924503A>T	uc001jal.1	+	c.1082A>T	c.(1081-1083)AAC>ATC	p.N361I	RET_uc001jak.1_Missense_Mutation_p.N361I	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	361	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.461538	91.44804	91.531123	30	35	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42924503	42924503	13705	10	A	T	T	2	2	RET	T	4	4
GPRIN2	9721	broad.mit.edu	36	10	46420014	46420014	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46420014G>A	uc001jec.1	+	c.1128G>A	c.(1126-1128)CCG>CCA	p.P376P	GPRIN2_uc009xmz.1_Silent_p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	376											0														0.169811	50.951016	67.336025	27	132	GG		KEEP	---	---	---	---	capture			Silent	SNP	46420014	46420014	7006	10	G	A	A	40	40	GPRIN2	A	1	1
OR10G8	219869	broad.mit.edu	36	11	123406261	123406261	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123406261C>G	uc001pzp.1	+	c.722C>G	c.(721-723)GCC>GGC	p.A241G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.588785	207.170893	207.895881	63	44	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	Missense_Mutation	SNP	123406261	123406261	11309	11	C	G	G	26	26	OR10G8	G	3	3
RCN1	5954	broad.mit.edu	36	11	32076540	32076540	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32076540A>G	uc001mtj.1	+	c.517A>G	c.(517-519)AGA>GGA	p.R173G	RCN1_uc001mtk.1_Missense_Mutation_p.R7G	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	173	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)													0.46875	106.54777	106.60199	30	34	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32076540	32076540	13648	11	A	G	G	11	11	RCN1	G	4	4
OR51S1	119692	broad.mit.edu	36	11	4826821	4826821	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4826821C>T	uc001lzo.1	-	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)												0.333333	76.078718	78.14183	28	56	CC		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4826821	4826821	11515	11	C	T	T	27	27	OR51S1	T	1	1
OR4C16	219428	broad.mit.edu	36	11	55096809	55096809	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55096809C>T	uc001nhp.1	+	c.630C>T	c.(628-630)GTC>GTT	p.V210V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.494845	145.092809	145.095121	48	49	CC		KEEP	---	---	---	---	capture			Silent	SNP	55096809	55096809	11455	11	C	T	T	29	29	OR4C16	T	2	2
OR5D18	219438	broad.mit.edu	36	11	55344403	55344403	+	Missense_Mutation	SNP	C	A	A	rs55843616	unknown	TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55344403C>A	uc001nhx.1	+	c.722C>A	c.(721-723)ACC>AAC	p.T241N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.506024	131.947054	131.949619	42	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55344403	55344403	11567	11	C	A	A	18	18	OR5D18	A	3	3
TSPAN4	7106	broad.mit.edu	36	11	856600	856600	+	Silent	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:856600A>G	uc001lsd.1	+	c.687A>G	c.(685-687)CAA>CAG	p.Q229Q	TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	229	Cytoplasmic (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)												0.228571	23.182895	25.546946	8	27	AA		KEEP	---	---	---	---	capture		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	856600	856600	17200	11	A	G	G	3	3	TSPAN4	G	4	4
TYR	7299	broad.mit.edu	36	11	88551236	88551236	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:88551236A>G	uc001pcs.1	+	c.467A>G	c.(466-468)TAT>TGT	p.Y156C		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	156	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.284884	150.111407	157.250545	49	123	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88551236	88551236	17370	11	A	G	G	16	16	TYR	G	4	4
CREBL2	1389	broad.mit.edu	36	12	12656387	12656387	+	Missense_Mutation	SNP	A	C	C			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12656387A>C	uc001rap.1	+	c.14A>C	c.(13-15)AAG>ACG	p.K5T		NM_001310	NP_001301	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	5					cell cycle|regulation of transcription, DNA-dependent|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Prostate(47;0.0684)												0.56044	161.725661	162.014117	51	40	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0503)	Missense_Mutation	SNP	12656387	12656387	4001	12	A	C	C	3	3	CREBL2	C	4	4
CACNA1C	775	broad.mit.edu	36	12	2545892	2545892	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2545892C>T	uc009zdu.1	+	c.1552C>T	c.(1552-1554)CGC>TGC	p.R518C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	518	II.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11					Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.75	20.553995	21.008776	6	2	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Missense_Mutation	SNP	2545892	2545892	2656	12	C	T	T	23	23	CACNA1C	T	1	1
CNTN1	1272	broad.mit.edu	36	12	39696801	39696801	+	Silent	SNP	A	T	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:39696801A>T	uc001rmm.1	+	c.2235A>T	c.(2233-2235)GCA>GCT	p.A745A	CNTN1_uc001rmn.1_Silent_p.A734A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	745	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.269231	80.255053	85.251858	28	76	AA		KEEP	---	---	---	---	capture			Silent	SNP	39696801	39696801	3778	12	A	T	T	8	8	CNTN1	T	4	4
SRGAP1	57522	broad.mit.edu	36	12	62777378	62777378	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:62777378C>T	uc001sru.1	+	c.1769C>T	c.(1768-1770)CCC>CTC	p.P590L	SRGAP1_uc001srv.1_Missense_Mutation_p.P527L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	590	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4														0.625	180.5315	181.735391	55	33	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	Missense_Mutation	SNP	62777378	62777378	15659	12	C	T	T	22	22	SRGAP1	T	2	2
PTPRB	5787	broad.mit.edu	36	12	69235951	69235951	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69235951C>T	uc001swc.2	-	c.4959G>A	c.(4957-4959)GAG>GAA	p.E1653E	PTPRB_uc001swb.2_Silent_p.E1435E|PTPRB_uc001swa.2_Silent_p.E1565E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1435	Fibronectin type-III 16.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)													0.212766	22.921522	26.507215	10	37	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		Silent	SNP	69235951	69235951	13253	12	C	T	T	24	24	PTPRB	T	2	2
MYO16	23026	broad.mit.edu	36	13	108657101	108657101	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:108657101T>C	uc010agk.1	+	c.5559T>C	c.(5557-5559)CCT>CCC	p.P1853P	MYO16_uc001vqt.1_Silent_p.P1831P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1831					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)													0.215909	50.680829	57.230412	19	69	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		Silent	SNP	108657101	108657101	10459	13	T	C	C	56	56	MYO16	C	4	4
PABPC3	5042	broad.mit.edu	36	13	24569682	24569682	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24569682G>A	uc001upy.1	+	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)												0.319218	262.938871	271.856817	98	209	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	Missense_Mutation	SNP	24569682	24569682	11780	13	G	A	A	38	38	PABPC3	A	1	1
ATP8A2	51761	broad.mit.edu	36	13	25171468	25171468	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25171468C>T	uc001uqk.1	+	c.2369C>T	c.(2368-2370)GCG>GTG	p.A790V	ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	750	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)												0.439394	88.46743	88.678302	29	37	CC		KEEP	---	---	---	---	capture		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	Missense_Mutation	SNP	25171468	25171468	1212	13	C	T	T	27	27	ATP8A2	T	1	1
PCDH20	64881	broad.mit.edu	36	13	60883659	60883659	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60883659T>C	uc001vid.2	-	c.2574A>G	c.(2572-2574)AGA>AGG	p.R858R	PCDH20_uc001vie.1_Silent_p.R831R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	831	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)												0.208333	67.811017	77.261453	25	95	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000118)	Silent	SNP	60883659	60883659	11935	13	T	C	C	62	62	PCDH20	C	4	4
PLA2G4D	283748	broad.mit.edu	36	15	40151373	40151373	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40151373G>A	uc001zox.1	-	c.1464C>T	c.(1462-1464)GTC>GTT	p.V488V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	488	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)	1		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)												0.627907	86.333395	86.950725	27	16	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	Silent	SNP	40151373	40151373	12430	15	G	A	A	37	37	PLA2G4D	A	1	1
ATP8B4	79895	broad.mit.edu	36	15	47998328	47998328	+	Nonsense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47998328C>A	uc001zxu.1	-	c.2035G>T	c.(2035-2037)GAA>TAA	p.E679*	ATP8B4_uc010ber.1_Nonsense_Mutation_p.E552*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	679	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)												0.285714	100.163049	105.345764	36	90	CC		KEEP	---	---	---	---	capture		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	Nonsense_Mutation	SNP	47998328	47998328	1216	15	C	A	A	24	24	ATP8B4	A	5	3
TMEM202	338949	broad.mit.edu	36	15	70487142	70487142	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70487142G>A	uc002auq.1	+	c.676G>A	c.(676-678)GTC>ATC	p.V226I	TMEM202_uc002aur.1_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	226						integral to membrane				central_nervous_system(1)	1														0.5625	174.259368	174.585726	54	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70487142	70487142	16662	15	G	A	A	40	40	TMEM202	A	1	1
SCAMP5	192683	broad.mit.edu	36	15	73092190	73092190	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73092190C>T	uc002azn.1	+	c.127C>T	c.(127-129)CTC>TTC	p.L43F	SCAMP5_uc002azk.1_Missense_Mutation_p.L43F|SCAMP5_uc002azl.1_Missense_Mutation_p.L43F|SCAMP5_uc002azm.1_Missense_Mutation_p.L43F	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	43	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1														0.423077	70.040104	70.308883	22	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73092190	73092190	14355	15	C	T	T	24	24	SCAMP5	T	2	2
CORO1A	11151	broad.mit.edu	36	16	30106221	30106221	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30106221C>T	uc002dww.1	+	c.654C>T	c.(652-654)CAC>CAT	p.H218H	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|CORO1A_uc010bzq.1_Silent_p.H218H|CORO1A_uc010bzr.1_Silent_p.H218H|CORO1A_uc002dwx.1_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	218	WD 5.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0														0.583333	109.860875	110.235327	35	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	30106221	30106221	3891	16	C	T	T	19	19	CORO1A	T	1	1
ARMC5	79798	broad.mit.edu	36	16	31378808	31378808	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31378808C>T	uc002ecc.1	+	c.462C>T	c.(460-462)GGC>GGT	p.G154G	ARMC5_uc002ecb.1_Silent_p.G154G|ARMC5_uc002eca.2_Silent_p.G154G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	154	ARM 1.						binding			pancreas(1)	1														0.358974	105.797426	107.854405	42	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	31378808	31378808	972	16	C	T	T	25	25	ARMC5	T	2	2
LRRC50	123872	broad.mit.edu	36	16	82761179	82761179	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82761179C>T	uc002fhl.2	+	c.1244C>T	c.(1243-1245)ACC>ATC	p.T415I		NM_178452	NP_848547	Q8NEP3	LRC50_HUMAN	leucine rich repeat containing 50	415	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			ovary(4)|pancreas(1)	5														0.192308	25.729875	32.728488	15	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82761179	82761179	9384	16	C	T	T	18	18	LRRC50	T	2	2
MYH1	4619	broad.mit.edu	36	17	10360093	10360093	+	Missense_Mutation	SNP	T	A	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10360093T>A	uc002gmo.1	-	c.380A>T	c.(379-381)AAC>ATC	p.N127I		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	127	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.666667	299.287385	302.755491	94	47	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10360093	10360093	10424	17	T	A	A	60	60	MYH1	A	4	4
ACCN1	40	broad.mit.edu	36	17	28365137	28365137	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28365137G>T	uc002hht.1	-	c.1651C>A	c.(1651-1653)CTG>ATG	p.L551M	ACCN1_uc002hhu.1_Missense_Mutation_p.L500M	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	500	Cytoplasmic (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)			Amiloride(DB00594)									0.736842	45.757685	46.721263	14	5	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Missense_Mutation	SNP	28365137	28365137	129	17	G	T	T	35	35	ACCN1	T	3	3
ERBB2	2064	broad.mit.edu	36	17	35120193	35120193	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35120193G>A	uc002hso.1	+	c.834G>A	c.(832-834)ACG>ACA	p.T278T	ERBB2_uc002hsl.2_Silent_p.T248T|ERBB2_uc002hsm.1_Silent_p.T248T|ERBB2_uc002hsp.1_Silent_p.T81T|ERBB2_uc010cwb.1_Silent_p.T278T|ERBB2_uc002hsn.1_Silent_p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	erbB-2 isoform a	278	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)			Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.636364	202.325133	203.940422	63	36	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Silent	SNP	35120193	35120193	5399	17	G	A	A	40	40	ERBB2	A	1	1
TP53	7157	broad.mit.edu	36	17	7518993	7518993	+	Missense_Mutation	SNP	A	C	C			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518993A>C	uc002gim.2	-	c.581T>G	c.(580-582)CTT>CGT	p.L194R	TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.1_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.L194R(27)|p.L194P(8)|p.0?(6)|p.L194H(5)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(1)|p.?(1)|p.A189fs*53(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I195fs*52(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.L194R(GSS-Tumor)|p.H193fs(59M-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.154762	23.418297	32.987659	13	71	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518993	7518993	16923	17	A	C	C	3	3	TP53	C	4	4
TP53	7157	broad.mit.edu	36	17	7519267	7519267	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519267G>A	uc002gim.2	-	c.388C>T	c.(388-390)CTC>TTC	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.1_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.L130V(11)|p.L130F(6)|p.Y126_K132delYSPALNK(6)|p.0?(6)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.L130F(HCC1359-Tumor)|p.L130V(OVCAR4-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.595238	86.686748	87.021342	25	17	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519267	7519267	16923	17	G	A	A	35	35	TP53	A	2	2
ALOX12B	242	broad.mit.edu	36	17	7921170	7921170	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7921170G>A	uc002gjy.1	-	c.1138C>T	c.(1138-1140)CTA>TTA	p.L380L		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	380	Lipoxygenase.				epidermis development|leukotriene biosynthetic process|oxidation-reduction process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0											Multiple Myeloma(8;0.094)			0.181818	8.003452	10.083084	4	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	7921170	7921170	540	17	G	A	A	34	34	ALOX12B	A	2	2
USP43	124739	broad.mit.edu	36	17	9556054	9556054	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9556054G>C	uc010cod.1	+	c.2215G>C	c.(2215-2217)GGG>CGG	p.G739R	USP43_uc002gma.2_Missense_Mutation_p.G428R|USP43_uc010coe.1_Missense_Mutation_p.G536R|USP43_uc002gmc.2_Missense_Mutation_p.G251R	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	739					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|central_nervous_system(1)	2														0.173913	6.626304	8.904622	4	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9556054	9556054	17638	17	G	C	C	39	39	USP43	C	3	3
RCVRN	5957	broad.mit.edu	36	17	9748843	9748843	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9748843A>G	uc002gme.1	-	c.380T>C	c.(379-381)ATG>ACG	p.M127T		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	127	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0														0.246753	86.569734	95.568439	38	116	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9748843	9748843	13655	17	A	G	G	8	8	RCVRN	G	4	4
DSG3	1830	broad.mit.edu	36	18	27300570	27300570	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27300570C>T	uc002kws.1	+	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	497	Cadherin 4.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.454054	266.187232	266.526253	84	101	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Silent	SNP	27300570	27300570	4962	18	C	T	T	31	31	DSG3	T	1	1
DSG3	1830	broad.mit.edu	36	18	27309682	27309682	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27309682G>A	uc002kws.1	+	c.2461G>A	c.(2461-2463)GCA>ACA	p.A821T	DSG3_uc002kwt.1_Missense_Mutation_p.A103T	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	821	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.574803	228.497947	229.120726	73	54	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27309682	27309682	4962	18	G	A	A	38	38	DSG3	A	1	1
SERPINB12	89777	broad.mit.edu	36	18	59383686	59383686	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59383686C>T	uc002ljb.1	+	c.734C>T	c.(733-735)ACG>ATG	p.T245M	SERPINB12_uc002lja.1_Missense_Mutation_p.T225M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0														0.270492	87.139966	92.924828	33	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59383686	59383686	14587	18	C	T	T	19	19	SERPINB12	T	1	1
ZNF443	10224	broad.mit.edu	36	19	12404219	12404219	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12404219G>T	uc002mtu.1	-	c.163C>A	c.(163-165)CAA>AAA	p.Q55K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1														0.391304	131.045924	132.237014	45	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12404219	12404219	18509	19	G	T	T	45	45	ZNF443	T	3	3
OR7A17	26333	broad.mit.edu	36	19	14852689	14852689	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14852689C>A	uc002mzy.1	-	c.479G>T	c.(478-480)AGC>ATC	p.S160I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.343284	193.907571	198.271298	69	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14852689	14852689	11626	19	C	A	A	28	28	OR7A17	A	3	3
ZNF208	7757	broad.mit.edu	36	19	21947050	21947050	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:21947050G>T	uc002nqp.1	-	c.2326C>A	c.(2326-2328)CTT>ATT	p.L776I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.307143	118.214463	122.83428	43	97	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21947050	21947050	18357	19	G	T	T	35	35	ZNF208	T	3	3
MAG	4099	broad.mit.edu	36	19	40492840	40492840	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40492840C>T	uc002nyy.1	+	c.1455C>T	c.(1453-1455)CGC>CGT	p.R485R	MAG_uc002nyz.1_Silent_p.R485R|MAG_uc002nyx.1_Silent_p.R485R|MAG_uc010eds.1_Silent_p.R460R	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	485	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)												0.222222	28.381625	32.207415	12	42	CC		KEEP	---	---	---	---	capture	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Silent	SNP	40492840	40492840	9539	19	C	T	T	27	27	MAG	T	1	1
CGB7	94027	broad.mit.edu	36	19	54249452	54249452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54249452G>A	uc002pmd.1	-	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	CGB8_uc002pmc.1_Intron|CGB7_uc002pme.1_Nonsense_Mutation_p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	136					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			Choriogonadotropin alfa(DB00097)									0.428571	71.083838	71.334345	24	32	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Nonsense_Mutation	SNP	54249452	54249452	3433	19	G	A	A	47	47	CGB7	A	5	2
KLK12	43849	broad.mit.edu	36	19	56227119	56227119	+	Silent	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56227119G>T	uc002pvh.1	-	c.282C>A	c.(280-282)ACC>ACA	p.T94T	KLK12_uc002pvi.1_Silent_p.T94T|KLK12_uc002pvj.1_Intron|KLK12_uc002pvk.1_Intron|KLK12_uc002pvg.1_Silent_p.T94T	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 1	94	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)												0.363636	10.496097	10.676415	4	7	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	Silent	SNP	56227119	56227119	8714	19	G	T	T	43	43	KLK12	T	3	3
ZNF28	7576	broad.mit.edu	36	19	57995861	57995861	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57995861G>T	uc002qad.1	-	c.1049C>A	c.(1048-1050)ACT>AAT	p.T350N	ZNF28_uc002qac.1_Missense_Mutation_p.T297N|ZNF28_uc010eqe.1_Missense_Mutation_p.T296N|ZNF28_uc010eqf.1_Missense_Mutation_p.T297N	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1														0.525862	195.976301	196.043449	61	55	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	Missense_Mutation	SNP	57995861	57995861	18405	19	G	T	T	36	36	ZNF28	T	3	3
VMAC	400673	broad.mit.edu	36	19	5860016	5860016	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5860016G>A	uc002mds.2	+	c.373G>A	c.(373-375)GAG>AAG	p.E125K		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	vimentin-type IF-associated coiled-coil protein	125						cytoplasm					0														0.384615	14.471822	14.623595	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5860016	5860016	17743	19	G	A	A	45	45	VMAC	A	2	2
NLRP7	199713	broad.mit.edu	36	19	60143080	60143080	+	Missense_Mutation	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60143080T>C	uc010esl.1	-	c.1003A>G	c.(1003-1005)AGG>GGG	p.R335G	NLRP7_uc002qig.2_Missense_Mutation_p.R307G|NLRP7_uc002qii.2_Missense_Mutation_p.R307G|NLRP7_uc002qih.2_Missense_Mutation_p.R307G|NLRP7_uc010esk.1_Missense_Mutation_p.R307G	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	307	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.342857	38.889615	39.653068	12	23	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60143080	60143080	10885	19	T	C	C	54	54	NLRP7	C	4	4
MUC16	94025	broad.mit.edu	36	19	8827765	8827765	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8827765C>T	uc002mkp.1	-	c.43188G>A	c.(43186-43188)TCG>TCA	p.S14396S	MUC16_uc010dwh.1_Non-coding_Transcript|MUC16_uc010dwi.1_Non-coding_Transcript|MUC16_uc010dwj.1_Silent_p.S1196S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14494	SEA 16.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	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														0.238095	11.16315	12.480319	5	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	8827765	8827765	10367	19	C	T	T	27	27	MUC16	T	1	1
MUC16	94025	broad.mit.edu	36	19	8918573	8918573	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8918573G>A	uc002mkp.1	-	c.29873C>T	c.(29872-29874)ACC>ATC	p.T9958I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9960	Ser-rich.|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														0.293033	377.250516	395.954742	143	345	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8918573	8918573	10367	19	G	A	A	44	44	MUC16	A	2	2
PDE4DIP	9659	broad.mit.edu	36	1	143565971	143565971	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:143565971C>T	uc001elw.2	-	c.6856G>A	c.(6856-6858)GTA>ATA	p.V2286I	NBPF9_uc001ekm.1_Intron|NBPF9_uc001eld.2_Intron|NBPF9_uc001elj.2_Intron|NBPF9_uc009wij.1_Intron|NBPF9_uc009wik.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.2_Intron|PDE4DIP_uc001eln.2_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elq.1_Intron|PDE4DIP_uc001elx.2_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.2_Missense_Mutation_p.V1293I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2286	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3										595				0.202703	37.584106	43.657224	15	59	CC		KEEP	---	---	---	---	capture		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	Missense_Mutation	SNP	143565971	143565971	12064	1	C	T	T	20	20	PDE4DIP	T	2	2
LCE1E	353135	broad.mit.edu	36	1	151026668	151026668	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151026668C>A	uc001fan.1	+	c.269C>A	c.(268-270)CCC>CAC	p.P90H	LCE1E_uc009wno.1_Missense_Mutation_p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	90	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.561404	195.222702	195.604236	64	50	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	151026668	151026668	8986	1	C	A	A	22	22	LCE1E	A	3	3
C1orf129	80133	broad.mit.edu	36	1	169195311	169195311	+	Silent	SNP	T	G	G			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169195311T>G	uc001ghg.1	+	c.237T>G	c.(235-237)CTT>CTG	p.L79L	C1orf129_uc009wvy.1_5'UTR	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133	79							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.222222	39.118312	43.588137	14	49	TT		KEEP	---	---	---	---	capture			Silent	SNP	169195311	169195311	2063	1	T	G	G	63	63	C1orf129	G	4	4
CACNA1E	777	broad.mit.edu	36	1	179960279	179960279	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179960279G>A	uc001gow.1	+	c.2125G>A	c.(2125-2127)GCC>ACC	p.A709T	CACNA1E_uc009wxs.1_Missense_Mutation_p.A616T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	709	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.388889	19.323421	19.517131	7	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179960279	179960279	2658	1	G	A	A	38	38	CACNA1E	A	1	1
C4BPA	722	broad.mit.edu	36	1	205366826	205366826	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205366826T>C	uc001hfo.1	+	c.852T>C	c.(850-852)GAT>GAC	p.D284D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)	2														0.5	241.701004	241.701004	68	68	TT		KEEP	---	---	---	---	capture			Silent	SNP	205366826	205366826	2344	1	T	C	C	49	49	C4BPA	C	4	4
RYR2	6262	broad.mit.edu	36	1	235855643	235855643	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235855643C>T	uc001hyl.1	+	c.6082C>T	c.(6082-6084)CGT>TGT	p.R2028C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2028	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.662162	165.098449	166.820563	49	25	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235855643	235855643	14249	1	C	T	T	27	27	RYR2	T	1	1
EPHA10	284656	broad.mit.edu	36	1	38000098	38000098	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38000098C>T	uc009vvi.1	-	c.416G>A	c.(415-417)CGT>CAT	p.R139H	EPHA10_uc001cbw.2_Missense_Mutation_p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	139	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.824561	147.450848	153.110112	47	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38000098	38000098	5359	1	C	T	T	19	19	EPHA10	T	1	1
KIAA0467	23334	broad.mit.edu	36	1	43678185	43678185	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43678185G>A	uc001cjk.1	+	c.4392G>A	c.(4390-4392)GGG>GGA	p.G1464G		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2363						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.82	132.796145	137.607453	41	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	43678185	43678185	8485	1	G	A	A	41	41	KIAA0467	A	2	2
DAB1	1600	broad.mit.edu	36	1	57307687	57307687	+	Splice_Site_SNP	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57307687C>T	uc001cys.1	-	c.598_splice	c.e10-1	p.Y200_splice	DAB1_uc001cyt.1_Splice_Site_SNP_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Splice_Site_SNP_p.Y200_splice	NM_021080	NP_066566			disabled homolog 1						cell differentiation|nervous system development					ovary(1)	1										395				0.820896	190.963433	197.456656	55	12	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	57307687	57307687	4383	1	C	T	T	20	20	DAB1	T	5	2
TNNI3K	51086	broad.mit.edu	36	1	74438055	74438055	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:74438055C>T	uc001dge.1	+	c.202C>T	c.(202-204)CTT>TTT	p.L68F	TNNI3K_uc001dgc.1_Missense_Mutation_p.L68F|TNNI3K_uc001dgd.2_Missense_Mutation_p.L68F|LRRIQ3_uc001dfy.2_5'Flank|LRRIQ3_uc001dfz.2_5'Flank|FPGT_uc001dgb.1_Missense_Mutation_p.L68F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	Error:Variant_position_missing_in_Q59H18_after_alignment					protein phosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10										765				0.761468	295.079559	301.883906	83	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74438055	74438055	16870	1	C	T	T	24	24	TNNI3K	T	2	2
ST6GALNAC3	256435	broad.mit.edu	36	1	76650340	76650340	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:76650340C>T	uc001dhh.1	+	c.273C>T	c.(271-273)GGC>GGT	p.G91G	ST6GALNAC3_uc001dhg.2_Silent_p.G91G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	ST6	91	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.787879	173.93376	178.987958	52	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	76650340	76650340	15743	1	C	T	T	26	26	ST6GALNAC3	T	2	2
BPIL3	128859	broad.mit.edu	36	20	31094333	31094333	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31094333C>A	uc002wyk.1	+	c.1240C>A	c.(1240-1242)CCA>ACA	p.P414T	BPIL3_uc002wyl.1_Missense_Mutation_p.P353T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	414						extracellular region	lipid binding			ovary(1)|pancreas(1)	2														0.526882	151.674111	151.732138	49	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31094333	31094333	1521	20	C	A	A	22	22	BPIL3	A	3	3
TSHZ2	128553	broad.mit.edu	36	20	51304068	51304068	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:51304068G>A	uc002xwo.2	+	c.664G>A	c.(664-666)GCG>ACG	p.A222T		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222	C2H2-type 1.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4														0.145833	11.599668	17.383718	7	41	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(23;0.1)		Missense_Mutation	SNP	51304068	51304068	17175	20	G	A	A	38	38	TSHZ2	A	1	1
GRIK1	2897	broad.mit.edu	36	21	29871256	29871256	+	Missense_Mutation	SNP	C	G	G			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:29871256C>G	uc002yno.1	-	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	GRIK1_uc002ynn.1_Missense_Mutation_p.E662Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.471591	285.917035	286.040341	83	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29871256	29871256	7052	21	C	G	G	32	32	GRIK1	G	3	3
C21orf29	54084	broad.mit.edu	36	21	44774228	44774228	+	Missense_Mutation	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44774228T>C	uc002zfe.1	-	c.671A>G	c.(670-672)GAC>GGC	p.D224G	C21orf29_uc010gpv.1_Missense_Mutation_p.D156G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29	224					cell adhesion	extracellular region	structural molecule activity				0														0.428571	67.866904	68.084854	21	28	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44774228	44774228	2204	21	T	C	C	58	58	C21orf29	C	4	4
IL1F6	27179	broad.mit.edu	36	2	113480115	113480115	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113480115G>A	uc002tip.1	+	c.104G>A	c.(103-105)AGG>AAG	p.R35K		NM_014440	NP_055255	Q9UHA7	IL1F6_HUMAN	interleukin 1 family, member 6 (epsilon)	35					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(2)	2														0.308824	61.949698	64.164386	21	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113480115	113480115	7955	2	G	A	A	35	35	IL1F6	A	2	2
XIRP2	129446	broad.mit.edu	36	2	167814637	167814637	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167814637G>A	uc002udx.1	+	c.8489G>A	c.(8488-8490)CGA>CAA	p.R2830Q	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.1_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R176Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2655					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.295918	80.141699	83.78964	29	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167814637	167814637	18011	2	G	A	A	37	37	XIRP2	A	1	1
TTN	7273	broad.mit.edu	36	2	179139966	179139966	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179139966A>G	uc002umr.1	-	c.71435T>C	c.(71434-71436)ATG>ACG	p.M23812T	TTN_uc002ums.1_Missense_Mutation_p.M17507T|TTN_uc010frc.1_Missense_Mutation_p.M17440T|TTN_uc010frd.1_Missense_Mutation_p.M17315T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24739										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				0.325714	155.412065	160.129703	57	118	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179139966	179139966	17290	2	A	G	G	8	8	TTN	G	4	4
TTN	7273	broad.mit.edu	36	2	179165113	179165113	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179165113C>T	uc002umr.1	-	c.52060G>A	c.(52060-52062)GCC>ACC	p.A17354T	TTN_uc002ums.1_Missense_Mutation_p.A11049T|TTN_uc010frc.1_Missense_Mutation_p.A10982T|TTN_uc010frd.1_Missense_Mutation_p.A10857T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18281										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				0.309524	36.158779	37.516812	13	29	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179165113	179165113	17290	2	C	T	T	27	27	TTN	T	1	1
NCOA1	8648	broad.mit.edu	36	2	24783381	24783381	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24783381C>T	uc002rfk.1	+	c.1538C>T	c.(1537-1539)TCG>TTG	p.S513L	NCOA1_uc010eye.1_Missense_Mutation_p.S513L|NCOA1_uc002rfi.1_Missense_Mutation_p.S362L|NCOA1_uc002rfj.1_Missense_Mutation_p.S513L|NCOA1_uc002rfl.1_Missense_Mutation_p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	513	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.280303	97.415025	103.14582	37	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24783381	24783381	10627	2	C	T	T	31	31	NCOA1	T	1	1
FAM179A	165186	broad.mit.edu	36	2	29121722	29121722	+	Silent	SNP	T	A	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29121722T>A	uc010ezl.1	+	c.2664T>A	c.(2662-2664)GCT>GCA	p.A888A	FAM179A_uc002rmr.2_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	888							binding			ovary(3)|skin(1)	4														0.232143	67.596155	74.952354	26	86	TT		KEEP	---	---	---	---	capture			Silent	SNP	29121722	29121722	5711	2	T	A	A	55	55	FAM179A	A	4	4
CYP1B1	1545	broad.mit.edu	36	2	38155849	38155849	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38155849C>T	uc002rqo.2	-	c.187G>A	c.(187-189)GCG>ACG	p.A63T		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	63					oxidation-reduction process|visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)					68				0.454545	13.398548	13.414216	5	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38155849	38155849	4316	2	C	T	T	27	27	CYP1B1	T	1	1
ALMS1	7840	broad.mit.edu	36	2	73505387	73505387	+	Silent	SNP	T	A	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73505387T>A	uc002sje.1	+	c.1089T>A	c.(1087-1089)GCT>GCA	p.A363A	ALMS1_uc002sjf.1_Silent_p.A320A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	ALMS1	362					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.283951	65.089679	68.485308	23	58	TT		KEEP	---	---	---	---	capture			Silent	SNP	73505387	73505387	538	2	T	A	A	55	55	ALMS1	A	4	4
DQX1	165545	broad.mit.edu	36	2	74600651	74600651	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74600651C>T	uc010ffk.1	-	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	DQX1_uc002smc.1_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	505						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2														0.256881	71.491124	77.30485	28	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74600651	74600651	4935	2	C	T	T	19	19	DQX1	T	1	1
MRPL30	51263	broad.mit.edu	36	2	99178068	99178068	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99178068G>C	uc002szu.1	+	c.337G>C	c.(337-339)GTT>CTT	p.V113L	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.2_Missense_Mutation_p.V113L|MRPL30_uc002szt.1_Non-coding_Transcript|MRPL30_uc002szv.1_Missense_Mutation_p.V113L	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	113					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1														0.269841	105.493779	111.515214	34	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99178068	99178068	10187	2	G	C	C	36	36	MRPL30	C	3	3
MORC1	27136	broad.mit.edu	36	3	110261353	110261353	+	Nonsense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110261353C>A	uc003dxl.1	-	c.1021G>T	c.(1021-1023)GAG>TAG	p.E341*		NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	341	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.349206	59.327286	60.593051	22	41	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	110261353	110261353	10092	3	C	A	A	32	32	MORC1	A	5	3
GOLGB1	2804	broad.mit.edu	36	3	122893622	122893622	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122893622C>T	uc010hrc.1	-	c.7279G>A	c.(7279-7281)GAG>AAG	p.E2427K	GOLGB1_uc003eei.2_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.2_Missense_Mutation_p.E2388K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2422	Cytoplasmic (Potential).|Potential.|Poly-Glu.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8														0.472906	308.991542	309.120689	96	107	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0989)	Missense_Mutation	SNP	122893622	122893622	6838	3	C	T	T	32	32	GOLGB1	T	2	2
CASR	846	broad.mit.edu	36	3	123486713	123486713	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123486713C>T	uc003eew.2	+	c.3252C>T	c.(3250-3252)AAC>AAT	p.N1084N	CASR_uc003eev.2_Silent_p.N1074N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1074	Cytoplasmic (Potential).				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)									0.383234	183.20385	185.183791	64	103	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.226)	Silent	SNP	123486713	123486713	2801	3	C	T	T	19	19	CASR	T	1	1
TRA2B	6434	broad.mit.edu	36	3	187121663	187121663	+	Missense_Mutation	SNP	G	C	C			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187121663G>C	uc003fpv.1	-	c.645C>G	c.(643-645)AGC>AGG	p.S215R	TRA2B_uc003fpt.1_Non-coding_Transcript|TRA2B_uc003fpu.1_Non-coding_Transcript|TRA2B_uc003fpw.1_Missense_Mutation_p.S215R|TRA2B_uc010hym.1_Missense_Mutation_p.S115R	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	215	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.375	12.639518	12.86119	6	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	187121663	187121663	16978	3	G	C	C	34	34	TRA2B	C	3	3
ALS2CL	259173	broad.mit.edu	36	3	46695755	46695755	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46695755G>A	uc003cqa.1	-	c.1575C>T	c.(1573-1575)GAC>GAT	p.D525D	ALS2CL_uc003cpx.1_5'Flank|ALS2CL_uc003cpy.1_5'Flank|ALS2CL_uc003cpz.1_Silent_p.D40D|ALS2CL_uc003cqb.1_Silent_p.D525D|ALS2CL_uc003cqc.1_Non-coding_Transcript	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	525	MORN 7.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)	4														0.421053	24.997193	25.100451	8	11	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	Silent	SNP	46695755	46695755	554	3	G	A	A	40	40	ALS2CL	A	1	1
ARFIP1	27236	broad.mit.edu	36	4	154028898	154028898	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154028898G>A	uc003imz.1	+	c.955G>A	c.(955-957)GAA>AAA	p.E319K	ARFIP1_uc003ina.1_Missense_Mutation_p.E287K|ARFIP1_uc003inb.1_Missense_Mutation_p.E287K|ARFIP1_uc003inc.1_Missense_Mutation_p.E319K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	319	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)													0.475	59.721837	59.743652	19	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154028898	154028898	865	4	G	A	A	33	33	ARFIP1	A	2	2
ACCN5	51802	broad.mit.edu	36	4	156984400	156984400	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:156984400G>A	uc003ipe.1	-	c.744C>T	c.(742-744)TTC>TTT	p.F248F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	248	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)												0.4	104.533123	105.276526	34	51	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	Silent	SNP	156984400	156984400	133	4	G	A	A	37	37	ACCN5	A	1	1
FSTL5	56884	broad.mit.edu	36	4	162678898	162678898	+	Silent	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:162678898A>G	uc003iqh.1	-	c.1182T>C	c.(1180-1182)AAT>AAC	p.N394N	FSTL5_uc003iqi.1_Silent_p.N393N|FSTL5_uc010iqv.1_Silent_p.N393N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	394	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)													0.47541	377.998238	378.125469	116	128	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.179)	Silent	SNP	162678898	162678898	6331	4	A	G	G	8	8	FSTL5	G	4	4
TLR1	7096	broad.mit.edu	36	4	38474990	38474990	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38474990G>A	uc003gtl.1	-	c.1858C>T	c.(1858-1860)CGG>TGG	p.R620W	TLR1_uc010iff.1_Missense_Mutation_p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1	620	Cytoplasmic (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity				0						GBM(5;216 373 40795 46382)								0.462687	298.870096	299.111797	93	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38474990	38474990	16479	4	G	A	A	39	39	TLR1	A	1	1
APC	324	broad.mit.edu	36	5	112202181	112202181	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112202181T>C	uc010jby.1	+	c.2991T>C	c.(2989-2991)TAT>TAC	p.Y997Y	APC_uc003kpz.2_Silent_p.Y997Y|APC_uc003kpy.2_Silent_p.Y997Y|APC_uc010jbz.1_Silent_p.Y714Y|APC_uc010jca.1_Silent_p.Y297Y	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	997	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.477419	224.926807	224.995985	74	81	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	Silent	SNP	112202181	112202181	773	5	T	C	C	51	51	APC	C	4	4
MAML1	9794	broad.mit.edu	36	5	179134283	179134283	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179134283C>T	uc003mkm.1	+	c.2850C>T	c.(2848-2850)GGC>GGT	p.G950G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	950					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(3)|ovary(2)	5	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)								189				0.428571	39.812587	39.969327	15	20	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	179134283	179134283	9588	5	C	T	T	27	27	MAML1	T	1	1
IRX2	153572	broad.mit.edu	36	5	2802779	2802779	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:2802779G>A	uc003jda.2	-	c.372C>T	c.(370-372)GAC>GAT	p.D124D	IRX2_uc003jdb.1_Silent_p.D124D|C5orf38_uc003jdc.1_5'Flank	NM_033267	NP_150366	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	124	Homeobox; TALE-type.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			skin(1)	1														0.457447	115.692088	115.842128	43	51	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(108;0.204)	Silent	SNP	2802779	2802779	8148	5	G	A	A	40	40	IRX2	A	1	1
BDP1	55814	broad.mit.edu	36	5	70848971	70848971	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:70848971G>A	uc003kbp.1	+	c.4927G>A	c.(4927-4929)GAA>AAA	p.E1643K	BDP1_uc003kbo.2_Missense_Mutation_p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1643					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)												0.418803	137.545649	138.220716	49	68	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	Missense_Mutation	SNP	70848971	70848971	1417	5	G	A	A	45	45	BDP1	A	2	2
JMY	133746	broad.mit.edu	36	5	78647811	78647811	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78647811T>C	uc003kfv.1	+	c.2064T>C	c.(2062-2064)CTT>CTC	p.L688L		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	964					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)												0.483333	103.577417	103.591668	29	31	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	Silent	SNP	78647811	78647811	8261	5	T	C	C	61	61	JMY	C	4	4
HOMER1	9456	broad.mit.edu	36	5	78733527	78733527	+	Missense_Mutation	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:78733527T>C	uc003kfy.1	-	c.635A>G	c.(634-636)AAA>AGA	p.K212R	HOMER1_uc010jab.1_Intron|HOMER1_uc010jac.1_Intron|HOMER1_uc010jad.1_Missense_Mutation_p.K38R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	212	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)												0.477941	448.433098	448.548165	130	142	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	Missense_Mutation	SNP	78733527	78733527	7570	5	T	C	C	64	64	HOMER1	C	4	4
ELL2	22936	broad.mit.edu	36	5	95259892	95259892	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:95259892G>T	uc003klr.2	-	c.1333C>A	c.(1333-1335)CTA>ATA	p.L445I		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	445					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)												0.22069	160.342393	181.171049	64	226	GG		KEEP	---	---	---	---	capture		all cancers(79;2.16e-15)	Missense_Mutation	SNP	95259892	95259892	5255	5	G	T	T	36	36	ELL2	T	3	3
HIVEP1	3096	broad.mit.edu	36	6	12272536	12272536	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:12272536T>C	uc003nac.1	+	c.8013T>C	c.(8011-8013)GTT>GTC	p.V2671V		NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2671					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.4375	43.645115	43.75404	14	18	TT		KEEP	---	---	---	---	capture			Silent	SNP	12272536	12272536	7477	6	T	C	C	64	64	HIVEP1	C	4	4
MYLK4	340156	broad.mit.edu	36	6	2630572	2630572	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2630572C>A	uc003mty.2	-	c.502G>T	c.(502-504)GAT>TAT	p.D168Y		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	168	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)								535				0.446429	371.125092	371.826575	125	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2630572	2630572	10454	6	C	A	A	31	31	MYLK4	A	3	3
RNF5	6048	broad.mit.edu	36	6	32255860	32255860	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32255860G>A	uc003oaj.2	+	c.424G>A	c.(424-426)GAG>AAG	p.E142K	AGPAT1_uc003oaf.1_5'Flank|AGPAT1_uc003oag.1_5'Flank|AGPAT1_uc003oah.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	142					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.334842	195.462677	200.806608	74	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32255860	32255860	13976	6	G	A	A	45	45	RNF5	A	2	2
COL11A2	1302	broad.mit.edu	36	6	33241380	33241380	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33241380C>A	uc003ocx.1	-	c.4674G>T	c.(4672-4674)AGG>AGT	p.R1558S	COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1558	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.372263	137.59758	139.557612	51	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33241380	33241380	3806	6	C	A	A	26	26	COL11A2	A	3	3
DUS4L	11062	broad.mit.edu	36	7	107005191	107005191	+	Missense_Mutation	SNP	T	G	G			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107005191T>G	uc003veh.1	+	c.904T>G	c.(904-906)TCA>GCA	p.S302A	DUS4L_uc003veg.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.1_Missense_Mutation_p.S212A|BCAP29_uc003vei.1_5'Flank|BCAP29_uc003vej.1_5'Flank|BCAP29_uc003vek.1_5'Flank|BCAP29_uc003vel.1_5'Flank|BCAP29_uc003vem.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like	302					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0														0.283784	126.811813	133.009987	42	106	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107005191	107005191	4993	7	T	G	G	58	58	DUS4L	G	4	4
TES	26136	broad.mit.edu	36	7	115676493	115676493	+	Silent	SNP	T	A	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115676493T>A	uc003vho.1	+	c.297T>A	c.(295-297)GCT>GCA	p.A99A	TES_uc010lka.1_Silent_p.A90A|TES_uc003vhp.1_Silent_p.A90A	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	testin isoform 1	99	PET.					cytoplasm|focal adhesion|nucleus	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)												0.177419	97.343767	121.65359	44	204	TT		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Silent	SNP	115676493	115676493	16292	7	T	A	A	55	55	TES	A	4	4
GRM8	2918	broad.mit.edu	36	7	126329927	126329927	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:126329927C>T	uc003vlr.2	-	c.1061G>A	c.(1060-1062)CGA>CAA	p.R354Q	GRM8_uc003vls.2_Missense_Mutation_p.R354Q|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	354	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.305732	132.381038	137.704921	48	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126329927	126329927	7082	7	C	T	T	31	31	GRM8	T	1	1
AGAP3	116988	broad.mit.edu	36	7	150471383	150471383	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150471383C>T	uc003wjg.1	+	c.2296C>T	c.(2296-2298)CGG>TGG	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	730	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.263158	65.863504	70.662781	25	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150471383	150471383	371	7	C	T	T	19	19	AGAP3	T	1	1
C7orf31	136895	broad.mit.edu	36	7	25148804	25148804	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:25148804G>A	uc003sxn.1	-	c.839C>T	c.(838-840)TCG>TTG	p.S280L	C7orf31_uc003sxm.1_Missense_Mutation_p.S122L	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	280											0														0.209581	83.642739	96.670888	35	132	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25148804	25148804	2494	7	G	A	A	37	37	C7orf31	A	1	1
VPS41	27072	broad.mit.edu	36	7	38782851	38782851	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38782851C>T	uc003tgy.1	-	c.835G>A	c.(835-837)GAT>AAT	p.D279N	VPS41_uc003tgz.1_Missense_Mutation_p.D254N|VPS41_uc010kxn.1_Missense_Mutation_p.D190N	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	279					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			central_nervous_system(1)	1														0.236111	41.135287	45.721524	17	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38782851	38782851	17777	7	C	T	T	29	29	VPS41	T	2	2
URGCP	55665	broad.mit.edu	36	7	43884065	43884065	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43884065C>T	uc003tiw.1	-	c.1522G>A	c.(1522-1524)GAG>AAG	p.E508K	URGCP_uc003tiv.1_Missense_Mutation_p.E433K|URGCP_uc003tix.1_Missense_Mutation_p.E499K|URGCP_uc003tiy.1_Missense_Mutation_p.E465K|URGCP_uc003tiz.1_Missense_Mutation_p.E465K|URGCP_uc003tiu.1_Missense_Mutation_p.E465K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	508					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)	3														0.159236	44.020021	61.354527	25	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43884065	43884065	17588	7	C	T	T	30	30	URGCP	T	2	2
POM121L12	285877	broad.mit.edu	36	7	53071284	53071284	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53071284G>A	uc003tpz.1	+	c.426G>A	c.(424-426)GCG>GCA	p.A142A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	142											0														0.363636	64.177096	65.258731	24	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	53071284	53071284	12669	7	G	A	A	38	38	POM121L12	A	1	1
POM121L12	285877	broad.mit.edu	36	7	53071409	53071409	+	Missense_Mutation	SNP	A	T	T			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53071409A>T	uc003tpz.1	+	c.551A>T	c.(550-552)CAG>CTG	p.Q184L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	184											0														0.104167	7.891218	22.850233	10	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53071409	53071409	12669	7	A	T	T	7	7	POM121L12	T	4	4
CLVS1	157807	broad.mit.edu	36	8	62375360	62375360	+	Silent	SNP	T	C	C			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:62375360T>C	uc003xuh.1	+	c.420T>C	c.(418-420)ATT>ATC	p.I140I	CLVS1_uc003xug.1_Silent_p.I140I|CLVS1_uc003xui.1_Intron|CLVS1_uc010lyp.1_Silent_p.I140I	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	140	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(1)|skin(1)	2														0.471429	114.872056	114.92162	33	37	TT		KEEP	---	---	---	---	capture			Silent	SNP	62375360	62375360	3709	8	T	C	C	62	62	CLVS1	C	4	4
C8orf84	157869	broad.mit.edu	36	8	74144624	74144624	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:74144624C>T	uc003xzf.1	-	c.632G>A	c.(631-633)CGT>CAT	p.R211H		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	RPE-spondin	216					immune response	extracellular region	polysaccharide binding|scavenger receptor activity				0														0.36	77.303726	78.598089	27	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74144624	74144624	2553	8	C	T	T	19	19	C8orf84	T	1	1
KCNT1	57582	broad.mit.edu	36	9	137796855	137796855	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137796855G>A	uc004cgn.1	+	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	KCNT1_uc010nbf.1_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	NM_020822	NP_065873	B9EGP2	B9EGP2_HUMAN	potassium channel, subfamily T, member 1	398						membrane	binding|calcium-activated potassium channel activity|catalytic activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)												0.446667	211.912786	212.283112	67	83	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	Missense_Mutation	SNP	137796855	137796855	8396	9	G	A	A	39	39	KCNT1	A	1	1
OCRL	4952	broad.mit.edu	36	X	128548755	128548755	+	Silent	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128548755A>G	uc004euq.1	+	c.2235A>G	c.(2233-2235)CTA>CTG	p.L745L	OCRL_uc004eur.1_Silent_p.L737L|OCRL_uc010nrb.1_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	745	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.333333	221.921521	227.238797	72	144	AA		KEEP	---	---	---	---	capture			Silent	SNP	128548755	128548755	11228	23	A	G	G	16	16	OCRL	G	4	4
HTATSF1	27336	broad.mit.edu	36	X	135421275	135421275	+	Missense_Mutation	SNP	G	T	T			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135421275G>T	uc004ezw.1	+	c.1705G>T	c.(1705-1707)GGT>TGT	p.G569C	HTATSF1_uc004ezx.1_Missense_Mutation_p.G569C	NM_014500	NP_055315	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.355263	79.202828	80.606043	27	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135421275	135421275	7733	23	G	T	T	47	47	HTATSF1	T	3	3
SOX3	6658	broad.mit.edu	36	X	139414470	139414470	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:139414470C>T	uc004fbd.1	-	c.422G>A	c.(421-423)CGG>CAG	p.R141Q		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	141	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)													0.315789	49.570338	51.269121	18	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139414470	139414470	15451	23	C	T	T	23	23	SOX3	T	1	1
MTM1	4534	broad.mit.edu	36	X	149590604	149590604	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:149590604C>T	uc004fef.2	+	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	MTM1_uc010nte.1_Missense_Mutation_p.R432C	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	564					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.240964	48.070648	53.144359	20	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149590604	149590604	10330	23	C	T	T	19	19	MTM1	T	1	1
GABRE	2564	broad.mit.edu	36	X	150879102	150879102	+	Missense_Mutation	SNP	A	G	G			TCGA-19-1390-01	TCGA-19-1390-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150879102A>G	uc004ffi.1	-	c.649T>C	c.(649-651)TCC>CCC	p.S217P	GABRE_uc004ffg.1_Missense_Mutation_p.S72P|GABRE_uc004fff.1_Missense_Mutation_p.S104P|GABRE_uc004ffh.1_Missense_Mutation_p.S104P|MIR224_hsa-mir-224|MI0000301_5'Flank	NM_004961	NP_068830	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	217	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.277027	124.417609	131.036417	41	107	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150879102	150879102	6421	23	A	G	G	9	9	GABRE	G	4	4
PLXNB3	5365	broad.mit.edu	36	X	152686906	152686906	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152686906C>T	uc004fii.1	+	c.1095C>T	c.(1093-1095)CCC>CCT	p.P365P	PLXNB3_uc010nuk.1_Silent_p.P388P	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3	365	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.214953	55.274869	63.299169	23	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	152686906	152686906	12551	23	C	T	T	23	23	PLXNB3	T	1	1
ACE2	59272	broad.mit.edu	36	X	15492080	15492080	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15492080C>T	uc004cwz.1	-	c.2297G>A	c.(2296-2298)AGA>AAA	p.R766K	ACE2_uc004cxa.1_Missense_Mutation_p.R766K|ACE2_uc004cxb.1_Missense_Mutation_p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	766	Cytoplasmic (Potential).				angiotensin catabolic process in blood|angiotensin-mediated drinking behavior|oxygen and reactive oxygen species metabolic process|proteolysis|receptor biosynthetic process|regulation of cell proliferation|regulation of cytokine production|regulation of inflammatory response|regulation of vasoconstriction|regulation of vasodilation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)									0.254386	229.985963	248.692477	87	255	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15492080	15492080	138	23	C	T	T	32	32	ACE2	T	2	2
KLHL34	257240	broad.mit.edu	36	X	21583928	21583928	+	Missense_Mutation	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21583928C>T	uc004czz.1	-	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	634										ovary(1)	1														0.325	33.255499	34.345587	13	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21583928	21583928	8701	23	C	T	T	32	32	KLHL34	T	2	2
BCOR	54880	broad.mit.edu	36	X	39817248	39817248	+	Silent	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39817248G>A	uc004den.2	-	c.2295C>T	c.(2293-2295)TCC>TCT	p.S765S	BCOR_uc004dep.2_Silent_p.S765S|BCOR_uc004deo.2_Silent_p.S765S|BCOR_uc004dem.2_Silent_p.S765S|BCOR_uc004deq.2_Silent_p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	765					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.298893	235.878897	245.668412	81	190	GG		KEEP	---	---	---	---	capture			Silent	SNP	39817248	39817248	1407	23	G	A	A	39	39	BCOR	A	1	1
BMP15	9210	broad.mit.edu	36	X	50670685	50670685	+	Silent	SNP	C	T	T			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50670685C>T	uc004dpg.1	+	c.162C>T	c.(160-162)GGC>GGT	p.G54G		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	54					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)													0.466667	19.748642	19.759961	7	8	CC		KEEP	---	---	---	---	capture			Silent	SNP	50670685	50670685	1483	23	C	T	T	27	27	BMP15	T	1	1
KDM5C	8242	broad.mit.edu	36	X	53247639	53247639	+	Missense_Mutation	SNP	G	A	A			TCGA-19-1390-01	TCGA-19-1390-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53247639G>A	uc004drz.1	-	c.1879C>T	c.(1879-1881)CGC>TGC	p.R627C	KDM5C_uc004dsa.1_Missense_Mutation_p.R626C|KDM5C_uc010nkb.1_Missense_Mutation_p.R52C	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C	627	JmjC.				chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.307692	31.995533	33.275703	12	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53247639	53247639	8441	23	G	A	A	38	38	KDM5C	A	1	1
YIPF6	286451	broad.mit.edu	36	X	67648523	67648523	+	Missense_Mutation	SNP	T	A	A			TCGA-19-1390-01	TCGA-19-1390-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67648523T>A	uc004dwy.1	+	c.165T>A	c.(163-165)AAT>AAA	p.N55K		NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	55						endoplasmic reticulum|integral to membrane					0														0.254777	111.227082	119.791756	40	117	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67648523	67648523	18065	23	T	A	A	51	51	YIPF6	A	4	4
PCDH11X	27328	broad.mit.edu	36	X	91019818	91019818	+	Missense_Mutation	SNP	C	A	A			TCGA-19-1390-01	TCGA-19-1390-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:91019818C>A	uc004efk.1	+	c.1923C>A	c.(1921-1923)TTC>TTA	p.F641L	PCDH11X_uc004efl.1_Missense_Mutation_p.F641L|PCDH11X_uc004efn.1_Missense_Mutation_p.F641L|PCDH11X_uc004efo.1_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.1_Missense_Mutation_p.F641L|PCDH11X_uc004efm.1_Missense_Mutation_p.F641L|PCDH11X_uc004efh.1_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	641	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.282609	61.903732	65.815011	26	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91019818	91019818	11928	23	C	A	A	32	32	PCDH11X	A	3	3
NACA	4666	broad.mit.edu	36	12	55398199	55398206	+	Frame_Shift_Del	DEL	TTGTGGGT	-	-			TCGA-19-1390-01	TCGA-19-1390-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55398199_55398206delTTGTGGGT	uc009zoy.1	-	c.3375_3382delACCCACAA	c.(3373-3384)GCACCCACAACCfs	p.A1125fs	NACA_uc001slz.2_Intron|NACA_uc001sly.2_Intron|NACA_uc001smc.2_Intron|NACA_uc001sma.2_Intron|NACA_uc001smb.2_Intron	NM_001113203	NP_001106674	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	Error:Variant_position_missing_in_Q13765_after_alignment					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1									p.A1125fs(SW837-Tumor)|p.A1125fs(KYSE180-Tumor)|p.A1125fs(NCIH684-Tumor)|p.T1127I(BICR31-Tumor)|p.A1125fs(DMS273-Tumor)	449				0.88			23	3				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	55398199	55398206	10528	12	TTGTGGGT	-	-	60	60	NACA	-	5	5
FAM123B	139285	broad.mit.edu	36	X	63328931	63328931	+	Frame_Shift_Del	DEL	T	-	-			TCGA-19-1390-01	TCGA-19-1390-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63328931_63328931delT	uc004dvo.1	-	c.961_961delA	c.(961-963)AGCfs	p.S321fs	FAM123B_uc010nkm.1_Frame_Shift_Del_p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	321					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.30			53	122				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	63328931	63328931	5620	23	T	-	-	56	56	FAM123B	-	5	5
