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	TCGAscape_Amplification_Peaks	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_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
ITGA8	8516	broad.mit.edu	37	10	15688876	15688876	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15688876G>A	uc001ioc.1	-	c.1176C>T	c.(1174-1176)CAC>CAT	p.H392H	ITGA8_uc010qcb.1_Silent_p.H377H	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	392	Extracellular (Potential).|FG-GAP 6.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.H392H(1)		ovary(3)|lung(3)	6														0.2	28.227124	33.697215	13	52	KEEP	---	---	---	---	capture		Silent	SNP	15688876	15688876	8186	10	G	A	A	A	464	36	ITGA8	2	2
ARMC3	219681	broad.mit.edu	37	10	23270397	23270397	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23270397A>T	uc001irm.3	+	c.1045A>T	c.(1045-1047)AGC>TGC	p.S349C	ARMC3_uc010qcv.1_Missense_Mutation_p.S349C|ARMC3_uc010qcw.1_Missense_Mutation_p.S86C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	349	ARM 9.						binding				0														0.270833	110.464346	117.282956	39	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23270397	23270397	970	10	A	T	T	T	91	7	ARMC3	3	3
THNSL1	79896	broad.mit.edu	37	10	25313016	25313016	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25313016C>T	uc001isi.3	+	c.864C>T	c.(862-864)TAC>TAT	p.Y288Y	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	288					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)									0.136691	30.537988	48.293267	19	120	KEEP	---	---	---	---	capture		Silent	SNP	25313016	25313016	16390	10	C	T	T	T	246	19	THNSL1	1	1
RASGEF1A	221002	broad.mit.edu	37	10	43696229	43696229	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43696229C>T	uc001jao.1	-	c.591G>A	c.(589-591)CCG>CCA	p.P197P	RASGEF1A_uc001jap.1_Silent_p.P189P	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	189					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.136364	4.314947	7.128457	3	19	KEEP	---	---	---	---	capture		Silent	SNP	43696229	43696229	13530	10	C	T	T	T	288	23	RASGEF1A	1	1
ITIH5	80760	broad.mit.edu	37	10	7627900	7627901	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7627900_7627901CA>AT	uc001ijq.2	-	c.1071_1072TG>AT	c.(1069-1074)GATGGG>GAATGG	p.357_358DG>EW	ITIH5_uc001ijp.2_Missense_Mutation_p.143_144DG>EW|ITIH5_uc001ijr.1_Missense_Mutation_p.357_358DG>EW	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	357_358	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.19802	89.024605	106.150006	40	162	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	7627900	7627901	8211	10	CA	AT	AT	AT	273	21	ITIH5	2	2
C10orf11	83938	broad.mit.edu	37	10	77795795	77795795	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:77795795G>A	uc001jxi.2	+	c.77G>A	c.(76-78)AGC>AAC	p.S26N		NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	26	LRR 2.										0	Prostate(51;0.0095)|all_epithelial(25;0.0221)											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.080268	-0.005729	53.605878	24	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77795795	77795795	1617	10	G	A	A	A	442	34	C10orf11	2	2
NRG3	10718	broad.mit.edu	37	10	83635731	83635731	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:83635731T>A	uc001kco.2	+	c.635T>A	c.(634-636)GTG>GAG	p.V212E	NRG3_uc010qlz.1_Missense_Mutation_p.V212E|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	212	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)										0.192308	10.967625	13.2605	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83635731	83635731	11054	10	T	A	A	A	767	59	NRG3	3	3
CNTN5	53942	broad.mit.edu	37	11	100211307	100211307	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100211307T>A	uc001pga.2	+	c.2843T>A	c.(2842-2844)TTC>TAC	p.F948Y	CNTN5_uc001pgb.2_Missense_Mutation_p.F874Y|CNTN5_uc010ruk.1_Missense_Mutation_p.F219Y	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	948	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.073171	-4.4223	18.621199	9	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100211307	100211307	3782	11	T	A	A	A	806	62	CNTN5	3	3
MMP12	4321	broad.mit.edu	37	11	102734913	102734913	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102734913C>A	uc001phk.2	-	c.1276G>T	c.(1276-1278)GGG>TGG	p.G426W		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	426	Hemopexin-like 3.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)									0.15	29.568444	41.303998	15	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102734913	102734913	10041	11	C	A	A	A	299	23	MMP12	1	1
OR51F1	256892	broad.mit.edu	37	11	4791125	4791125	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4791125G>T	uc010qyl.1	-	c.23C>A	c.(22-24)ACA>AAA	p.T8K		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	8						integral to membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.147541	17.194878	24.422661	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4791125	4791125	11506	11	G	T	T	T	624	48	OR51F1	2	2
OR4C13	283092	broad.mit.edu	37	11	49974694	49974694	+	Silent	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974694C>A	uc010rhz.1	+	c.720C>A	c.(718-720)TCC>TCA	p.S240S		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.204444	210.831878	247.250061	92	358	KEEP	---	---	---	---	capture		Silent	SNP	49974694	49974694	11453	11	C	A	A	A	275	22	OR4C13	2	2
OR4C46	119749	broad.mit.edu	37	11	51515552	51515552	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515552C>G	uc010ric.1	+	c.271C>G	c.(271-273)CTA>GTA	p.L91V		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.127586	50.521109	89.875495	37	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515552	51515552	11458	11	C	G	G	G	311	24	OR4C46	3	3
OR52A5	390054	broad.mit.edu	37	11	5153259	5153259	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5153259A>C	uc010qyx.1	-	c.614T>G	c.(613-615)GTT>GGT	p.V205G		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.128571	58.40996	96.039468	36	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5153259	5153259	11520	11	A	C	C	C	26	2	OR52A5	4	4
OR4C6	219432	broad.mit.edu	37	11	55432993	55432993	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55432993C>T	uc001nht.3	+	c.351C>T	c.(349-351)GCC>GCT	p.A117A	OR4C6_uc010rik.1_Silent_p.A117A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.151079	83.395174	115.794822	42	236	KEEP	---	---	---	---	capture		Silent	SNP	55432993	55432993	11459	11	C	T	T	T	301	24	OR4C6	2	2
OR4D10	390197	broad.mit.edu	37	11	59245745	59245746	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59245745_59245746GC>TT	uc001nnz.1	+	c.843_844GC>TT	c.(841-846)CTGCTC>CTTTTC	p.L282F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.216931	100.042084	114.053526	41	148	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	59245745	59245746	11461	11	GC	TT	TT	TT	587	46	OR4D10	2	2
MS4A7	58475	broad.mit.edu	37	11	60157005	60157005	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60157005A>G	uc001npe.2	+	c.482A>G	c.(481-483)TAT>TGT	p.Y161C	MS4A7_uc001npf.2_Missense_Mutation_p.Y161C|MS4A7_uc001npg.2_Missense_Mutation_p.Y116C|MS4A7_uc001nph.2_Missense_Mutation_p.Y116C|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.Y116C	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	161	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.210227	104.592841	118.252949	37	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60157005	60157005	10259	11	A	G	G	G	208	16	MS4A7	4	4
MS4A10	341116	broad.mit.edu	37	11	60557990	60557990	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60557990G>T	uc001npz.1	+	c.182G>T	c.(181-183)GGG>GTG	p.G61V		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	61	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.245614	29.785262	33.187715	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60557990	60557990	10248	11	G	T	T	T	559	43	MS4A10	2	2
ARFIP2	23647	broad.mit.edu	37	11	6500428	6500428	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6500428C>A	uc010ran.1	-	c.356G>T	c.(355-357)CGG>CTG	p.R119L	ARFIP2_uc001mdk.2_Missense_Mutation_p.R86L|ARFIP2_uc001mdl.2_Missense_Mutation_p.R86L|ARFIP2_uc010ral.1_Missense_Mutation_p.R48L|ARFIP2_uc010ram.1_Intron|ARFIP2_uc001mdm.2_Non-coding_Transcript|ARFIP2_uc009yfe.1_3'UTR|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	86					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		Melanoma(119;796 1674 9049 20480 24794)								0.234973	112.482987	124.225541	43	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6500428	6500428	866	11	C	A	A	A	299	23	ARFIP2	1	1
SUV420H1	51111	broad.mit.edu	37	11	67939111	67939111	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67939111T>C	uc001onm.1	-	c.719A>G	c.(718-720)AAC>AGC	p.N240S	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.N68S|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.N240S|SUV420H1_uc001onp.2_Missense_Mutation_p.N240S|SUV420H1_uc010rqa.1_Missense_Mutation_p.N217S|SUV420H1_uc001onq.2_Missense_Mutation_p.N240S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	240	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3														0.096774	9.004906	24.159547	9	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67939111	67939111	15934	11	T	C	C	C	780	60	SUV420H1	4	4
POLD3	10714	broad.mit.edu	37	11	74345735	74345735	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74345735G>A	uc001ovf.1	+	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I	POLD3_uc009yua.1_Missense_Mutation_p.V266I	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	372					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)													0.099476	8.074895	38.726759	19	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74345735	74345735	12620	11	G	A	A	A	624	48	POLD3	2	2
OR10A6	390093	broad.mit.edu	37	11	7950014	7950014	+	Silent	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7950014A>G	uc010rbh.1	-	c.196T>C	c.(196-198)TTA>CTA	p.L66L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.054825	-31.982746	63.181855	25	431	KEEP	---	---	---	---	capture		Silent	SNP	7950014	7950014	11300	11	A	G	G	G	37	3	OR10A6	4	4
DLG2	1740	broad.mit.edu	37	11	83177818	83177818	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83177818G>A	uc001pak.2	-	c.2662C>T	c.(2662-2664)CGG>TGG	p.R888W	DLG2_uc001pai.2_Missense_Mutation_p.R662W|DLG2_uc010rsy.1_Missense_Mutation_p.R732W|DLG2_uc001paj.2_Missense_Mutation_p.R783W|DLG2_uc010rsz.1_Missense_Mutation_p.R779W|DLG2_uc010rta.1_Missense_Mutation_p.R765W|DLG2_uc010rtb.1_Missense_Mutation_p.R750W|DLG2_uc010rsw.1_Missense_Mutation_p.R247W|DLG2_uc010rsx.1_Missense_Mutation_p.R260W	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	783	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.173432	89.368371	116.657082	47	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83177818	83177818	4735	11	G	A	A	A	493	38	DLG2	1	1
RAB38	23682	broad.mit.edu	37	11	87908545	87908545	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:87908545G>T	uc001pcj.1	-	c.8C>A	c.(7-9)GCC>GAC	p.A3D		NM_022337	NP_071732	P57729	RAB38_HUMAN	RAB38	3					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.210526	22.299321	26.629988	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87908545	87908545	13387	11	G	T	T	T	546	42	RAB38	2	2
ASCL3	56676	broad.mit.edu	37	11	8959359	8959359	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8959359C>T	uc001mhd.1	-	c.350G>A	c.(349-351)CGC>CAC	p.R117H		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	116	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription regulator activity				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)										0.290323	114.009602	120.120723	45	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8959359	8959359	1054	11	C	T	T	T	351	27	ASCL3	1	1
NAALAD2	10003	broad.mit.edu	37	11	89902143	89902143	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89902143C>T	uc001pdf.3	+	c.1325C>T	c.(1324-1326)TCG>TTG	p.S442L	NAALAD2_uc009yvx.2_Missense_Mutation_p.S409L|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.055556	-5.857498	9.102735	4	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89902143	89902143	10523	11	C	T	T	T	403	31	NAALAD2	1	1
CWC15	51503	broad.mit.edu	37	11	94704546	94704546	+	Silent	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94704546T>G	uc001pfd.3	-	c.237A>C	c.(235-237)CCA>CCC	p.P79P	CWC15_uc009ywl.1_Silent_p.P79P|KDM4D_uc001pfe.2_5'Flank	NM_016403	NP_057487	Q9P013	CWC15_HUMAN	CWC15 homolog	79					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.06383	-1.50903	7.78857	3	44	KEEP	---	---	---	---	capture		Silent	SNP	94704546	94704546	4227	11	T	G	G	G	808	63	CWC15	4	4
PTPN11	5781	broad.mit.edu	37	12	112939963	112939963	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112939963G>C	uc001ttx.2	+	c.1615G>C	c.(1615-1617)GGG>CGG	p.G539R		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	543					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388										372				0.27907	139.572942	147.165552	48	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112939963	112939963	13235	12	G	C	C	C	455	35	PTPN11	3	3
PIWIL1	9271	broad.mit.edu	37	12	130832712	130832712	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130832712G>T	uc001uik.2	+	c.718G>T	c.(718-720)GAT>TAT	p.D240Y	PIWIL1_uc001uij.1_Missense_Mutation_p.D240Y	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	240					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)										0.098592	4.570148	16.016093	7	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130832712	130832712	12381	12	G	T	T	T	585	45	PIWIL1	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.459459	51.670987	51.72393	17	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
C12orf35	55196	broad.mit.edu	37	12	32138481	32138481	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32138481A>G	uc001rks.2	+	c.4592A>G	c.(4591-4593)AAC>AGC	p.N1531S	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1531										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)											0.370968	79.112498	80.018184	23	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32138481	32138481	1726	12	A	G	G	G	26	2	C12orf35	4	4
LRRK2	120892	broad.mit.edu	37	12	40734098	40734098	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40734098A>C	uc001rmg.3	+	c.5951A>C	c.(5950-5952)TAC>TCC	p.Y1984S	LRRK2_uc009zjw.2_Missense_Mutation_p.Y822S|LRRK2_uc001rmi.2_Missense_Mutation_p.Y817S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1984	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.096712	46.212581	130.512986	50	467	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40734098	40734098	9409	12	A	C	C	C	182	14	LRRK2	4	4
PFKM	5213	broad.mit.edu	37	12	48535581	48535581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48535581C>T	uc001rrb.1	+	c.1684C>T	c.(1684-1686)CAG>TAG	p.Q562*	PFKM_uc001rra.1_Nonsense_Mutation_p.Q176*|PFKM_uc001rrc.2_Nonsense_Mutation_p.Q491*|PFKM_uc001rrd.2_Nonsense_Mutation_p.Q176*|PFKM_uc001rre.1_Nonsense_Mutation_p.Q491*|PFKM_uc001rrg.1_Nonsense_Mutation_p.Q460*	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	491					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(1)|kidney(1)	2														0.114625	22.116149	59.363184	29	224	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48535581	48535581	12187	12	C	T	T	T	377	29	PFKM	5	2
KRT75	9119	broad.mit.edu	37	12	52824482	52824482	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52824482G>T	uc001saj.2	-	c.878C>A	c.(877-879)TCC>TAC	p.S293Y		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	293	Coil 1B.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)										0.227723	50.770478	57.644462	23	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52824482	52824482	8803	12	G	T	T	T	533	41	KRT75	2	2
MYO1A	4640	broad.mit.edu	37	12	57430774	57430774	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57430774C>T	uc001smw.3	-	c.2157G>A	c.(2155-2157)CTG>CTA	p.L719L	MYO1A_uc010sqz.1_Silent_p.L557L|MYO1A_uc009zpd.2_Silent_p.L719L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	719	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.107981	19.349438	51.864349	23	190	KEEP	---	---	---	---	capture		Silent	SNP	57430774	57430774	10463	12	C	T	T	T	366	29	MYO1A	2	2
VWF	7450	broad.mit.edu	37	12	6145657	6145657	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6145657C>T	uc001qnn.1	-	c.2443G>A	c.(2443-2445)GTC>ATC	p.V815I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	815	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.05	-11.940689	9.478338	5	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6145657	6145657	17818	12	C	T	T	T	234	18	VWF	2	2
NAV3	89795	broad.mit.edu	37	12	78531076	78531076	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78531076G>T	uc001syp.2	+	c.4561G>T	c.(4561-4563)GCC>TCC	p.A1521S	NAV3_uc001syo.2_Missense_Mutation_p.A1521S|NAV3_uc010sub.1_Missense_Mutation_p.A1007S|NAV3_uc009zsf.2_Missense_Mutation_p.A352S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1521	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.189655	48.847947	59.247831	22	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78531076	78531076	10581	12	G	T	T	T	598	46	NAV3	2	2
SLITRK1	114798	broad.mit.edu	37	13	84455261	84455261	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455261C>A	uc001vlk.2	-	c.382G>T	c.(382-384)GGG>TGG	p.G128W		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	128	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.058824	-15.828112	25.721327	12	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455261	84455261	15240	13	C	A	A	A	286	22	SLITRK1	2	2
CDH24	64403	broad.mit.edu	37	14	23517523	23517523	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23517523G>A	uc001wil.2	-	c.2126C>T	c.(2125-2127)GCG>GTG	p.A709V	CDH24_uc001wik.3_Non-coding_Transcript|CDH24_uc010akf.2_Missense_Mutation_p.A671V	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	709	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)										0.136364	8.4282	14.070622	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23517523	23517523	3238	14	G	A	A	A	494	38	CDH24	1	1
HEATR5A	25938	broad.mit.edu	37	14	31765218	31765218	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31765218G>T	uc001wrf.3	-	c.4637C>A	c.(4636-4638)ACA>AAA	p.T1546K	HEATR5A_uc010ami.2_Missense_Mutation_p.T1369K	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)										0.113043	11.059909	28.145936	13	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31765218	31765218	7314	14	G	T	T	T	624	48	HEATR5A	2	2
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38724650C>T	uc001wum.1	-	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)	3	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)										0.151786	28.515381	41.513292	17	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38724650	38724650	3636	14	C	T	T	T	351	27	CLEC14A	1	1
FSCB	84075	broad.mit.edu	37	14	44975840	44975840	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975840A>C	uc001wvn.2	-	c.351T>G	c.(349-351)ATT>ATG	p.I117M		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	117						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.057554	-28.87546	56.879357	24	393	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975840	44975840	6316	14	A	C	C	C	112	9	FSCB	4	4
SMOC1	64093	broad.mit.edu	37	14	70420144	70420144	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70420144C>T	uc001xlt.1	+	c.273C>T	c.(271-273)GGC>GGT	p.G91G	SMOC1_uc001xls.1_Silent_p.G91G	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	91					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			pancreas(1)	1				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)										0.156757	87.813032	129.451602	58	312	KEEP	---	---	---	---	capture		Silent	SNP	70420144	70420144	15301	14	C	T	T	T	327	26	SMOC1	2	2
POMT2	29954	broad.mit.edu	37	14	77769182	77769182	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77769182C>A	uc001xti.2	-	c.652G>T	c.(652-654)GAC>TAC	p.D218Y	POMT2_uc001xth.1_5'Flank|POMT2_uc010asr.2_Missense_Mutation_p.D107Y	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	218					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)										0.092593	0.330499	9.363179	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77769182	77769182	12675	14	C	A	A	A	403	31	POMT2	1	1
SEL1L	6400	broad.mit.edu	37	14	81943369	81943369	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81943369G>A	uc010tvv.1	-	c.2332C>T	c.(2332-2334)CGG>TGG	p.R778W		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	778	Pro-rich.|Mediates retention to the endoplasmic reticulum.|Cytoplasmic (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)										0.222973	78.005531	88.374582	33	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81943369	81943369	14496	14	G	A	A	A	519	40	SEL1L	1	1
FOXN3	1112	broad.mit.edu	37	14	89878562	89878562	+	Missense_Mutation	SNP	C	A	A	rs61754094		TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89878562C>A	uc001xxo.3	-	c.259G>T	c.(259-261)GTC>TTC	p.V87F	FOXN3_uc001xxn.3_Missense_Mutation_p.V87F|FOXN3_uc010atk.2_Missense_Mutation_p.V87F|FOXN3_uc001xxp.2_Missense_Mutation_p.V87F	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	87					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|skin(1)	2														0.125	9.700522	17.381981	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89878562	89878562	6267	14	C	A	A	A	247	19	FOXN3	1	1
SERPINA3	12	broad.mit.edu	37	14	95081053	95081053	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95081053A>G	uc001ydo.3	+	c.350A>G	c.(349-351)CAT>CGT	p.H117R	SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.H92R|SERPINA3_uc001ydp.2_Missense_Mutation_p.H92R|SERPINA3_uc001yds.2_Missense_Mutation_p.H92R|SERPINA3_uc010avg.2_Missense_Mutation_p.H92R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	92					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.24581	110.725044	121.258128	44	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95081053	95081053	14578	14	A	G	G	G	104	8	SERPINA3	4	4
CLMN	79789	broad.mit.edu	37	14	95670140	95670140	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95670140C>A	uc001yef.2	-	c.1546G>T	c.(1546-1548)GCC>TCC	p.A516S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	516						integral to membrane	actin binding				0				Epithelial(152;0.193)										0.15873	28.493858	42.395023	20	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95670140	95670140	3680	14	C	A	A	A	364	28	CLMN	2	2
ADAMTS17	170691	broad.mit.edu	37	15	100695409	100695409	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100695409C>T	uc002bvv.1	-	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	ADAMTS17_uc002bvx.1_Missense_Mutation_p.R190Q	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	433	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)										0.25	82.652462	89.915685	32	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100695409	100695409	263	15	C	T	T	T	403	31	ADAMTS17	1	1
UNC13C	440279	broad.mit.edu	37	15	54793050	54793050	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54793050G>A	uc002ack.2	+	c.5175G>A	c.(5173-5175)GAG>GAA	p.E1725E		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1725	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)					p.E1725E(SNU1040-Tumor)	2691				0.112426	25.2948	50.367816	19	150	KEEP	---	---	---	---	capture		Silent	SNP	54793050	54793050	17544	15	G	A	A	A	438	34	UNC13C	2	2
GCOM1	145781	broad.mit.edu	37	15	57953691	57953691	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57953691T>C	uc002aem.2	+	c.1163T>C	c.(1162-1164)ATA>ACA	p.I388T	GCOM1_uc002aei.2_Missense_Mutation_p.I388T|GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Non-coding_Transcript|GCOM1_uc002aeq.2_Non-coding_Transcript|GCOM1_uc002aen.2_Non-coding_Transcript|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Missense_Mutation_p.I388T|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_Non-coding_Transcript	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	GRINL1A combined protein isoform 1	388	Potential.									ovary(1)	1														0.121951	9.646504	15.384097	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57953691	57953691	6571	15	T	C	C	C	637	49	GCOM1	4	4
CILP	8483	broad.mit.edu	37	15	65489854	65489854	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65489854A>T	uc002aon.2	-	c.2770T>A	c.(2770-2772)TAC>AAC	p.Y924N		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	924					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)	6														0.372414	164.964557	167.01717	54	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65489854	65489854	3563	15	A	T	T	T	195	15	CILP	3	3
MYO9A	4649	broad.mit.edu	37	15	72119337	72119337	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72119337G>T	uc002atl.3	-	c.7231C>A	c.(7231-7233)CCT>ACT	p.P2411T	MYO9A_uc002atj.2_Missense_Mutation_p.P342T|MYO9A_uc002atk.2_Missense_Mutation_p.P1206T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2411	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3														0.108844	19.104916	41.374716	16	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72119337	72119337	10479	15	G	T	T	T	572	44	MYO9A	2	2
TMEM202	338949	broad.mit.edu	37	15	72700151	72700151	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72700151G>T	uc002auq.2	+	c.739G>T	c.(739-741)GCT>TCT	p.A247S	TMEM202_uc002aur.2_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	247						integral to membrane				central_nervous_system(1)	1														0.366667	129.664153	131.541586	44	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72700151	72700151	16662	15	G	T	T	T	598	46	TMEM202	2	2
ISLR2	57611	broad.mit.edu	37	15	74426123	74426123	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74426123C>A	uc002axd.2	+	c.1028C>A	c.(1027-1029)CCC>CAC	p.P343H	ISLR2_uc002axe.2_Missense_Mutation_p.P343H|ISLR2_uc010bjg.2_Missense_Mutation_p.P343H|ISLR2_uc010bjf.2_Missense_Mutation_p.P343H	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	343	Ig-like.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.217391	22.974475	26.327209	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74426123	74426123	8163	15	C	A	A	A	286	22	ISLR2	2	2
PPCDC	60490	broad.mit.edu	37	15	75340919	75340919	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75340919G>A	uc002azo.2	+	c.386G>A	c.(385-387)CGC>CAC	p.R129H		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	129					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity				0														0.058824	-5.1492	8.707089	4	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75340919	75340919	12734	15	G	A	A	A	494	38	PPCDC	1	1
XYLT1	64131	broad.mit.edu	37	16	17228543	17228543	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17228543T>G	uc002dfa.2	-	c.1814A>C	c.(1813-1815)AAT>ACT	p.N605T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	605	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.100917	47.792537	117.086855	44	392	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17228543	17228543	18046	16	T	G	G	G	676	52	XYLT1	4	4
STX1B	112755	broad.mit.edu	37	16	31008314	31008314	+	Silent	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31008314G>T	uc010cad.2	-	c.421C>A	c.(421-423)CGG>AGG	p.R141R	STX1B_uc010vfd.1_Silent_p.R141R	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	141	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0														0.102041	5.960673	13.676633	5	44	KEEP	---	---	---	---	capture		Silent	SNP	31008314	31008314	15864	16	G	T	T	T	506	39	STX1B	1	1
ITGAX	3687	broad.mit.edu	37	16	31391671	31391671	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31391671G>T	uc002ebt.2	+	c.3145G>T	c.(3145-3147)GGC>TGC	p.G1049C	ITGAX_uc002ebu.1_Missense_Mutation_p.G1049C	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1049	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.47619	32.255635	32.265377	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31391671	31391671	8193	16	G	T	T	T	559	43	ITGAX	2	2
NKD1	85407	broad.mit.edu	37	16	50667594	50667594	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50667594G>C	uc002egg.1	+	c.1315G>C	c.(1315-1317)GTG>CTG	p.V439L		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	439					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)										0.333333	6.787795	7.026724	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50667594	50667594	10842	16	G	C	C	C	572	44	NKD1	3	3
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55730216C>T	uc002eif.2	+	c.1227C>T	c.(1225-1227)TTC>TTT	p.F409F	SLC6A2_uc010ccd.2_Silent_p.F409F|SLC6A2_uc002eig.2_Silent_p.F409F|SLC6A2_uc002eih.2_Silent_p.F409F|SLC6A2_uc002eii.2_Silent_p.F304F|SLC6A2_uc002eij.2_Silent_p.F123F	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	409	Helical; Name=8; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.132184	71.556559	117.285651	46	302	KEEP	---	---	---	---	capture		Silent	SNP	55730216	55730216	15180	16	C	T	T	T	402	31	SLC6A2	1	1
PMFBP1	83449	broad.mit.edu	37	16	72158693	72158693	+	Silent	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72158693T>C	uc002fcc.3	-	c.2577A>G	c.(2575-2577)AAA>AAG	p.K859K	PMFBP1_uc002fcd.2_Silent_p.K854K|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_Silent_p.K709K|PMFBP1_uc010cgo.1_Silent_p.K150K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	859	Potential.									ovary(1)	1		Ovarian(137;0.179)										OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.170648	116.555415	146.632687	50	243	KEEP	---	---	---	---	capture		Silent	SNP	72158693	72158693	12560	16	T	C	C	C	725	56	PMFBP1	4	4
SLC47A2	146802	broad.mit.edu	37	17	19607464	19607464	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19607464A>T	uc002gwe.3	-	c.1045T>A	c.(1045-1047)TGT>AGT	p.C349S	SLC47A2_uc002gwg.3_Missense_Mutation_p.C313S|SLC47A2_uc002gwf.3_Missense_Mutation_p.C327S|SLC47A2_uc002gwh.3_Non-coding_Transcript|SLC47A2_uc002gwi.2_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	349	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)													0.125	4.308544	7.605796	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19607464	19607464	15145	17	A	T	T	T	91	7	SLC47A2	3	3
LGALS9	3965	broad.mit.edu	37	17	25972923	25972923	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25972923G>T	uc002gzp.2	+	c.613G>T	c.(613-615)GGA>TGA	p.G205*	LGALS9_uc002gzq.2_Nonsense_Mutation_p.G173*|LGALS9_uc002gzr.2_Nonsense_Mutation_p.G116*|LGALS9_uc010waa.1_Nonsense_Mutation_p.G148*|LGALS9_uc002gzs.2_Nonsense_Mutation_p.G173*	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	205					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)								0.18	18.343199	23.160882	9	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25972923	25972923	9074	17	G	T	T	T	611	47	LGALS9	5	2
TMEM132E	124842	broad.mit.edu	37	17	32964224	32964224	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32964224A>G	uc002hif.2	+	c.1928A>G	c.(1927-1929)TAC>TGC	p.Y643C		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	643	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.194444	85.682377	101.311349	35	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32964224	32964224	16580	17	A	G	G	G	182	14	TMEM132E	4	4
CCT6B	10693	broad.mit.edu	37	17	33288358	33288358	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33288358C>A	uc002hig.2	-	c.55G>T	c.(55-57)GCT>TCT	p.A19S	CCT6B_uc010ctg.2_Missense_Mutation_p.A19S|CCT6B_uc010wcc.1_Missense_Mutation_p.A19S|ZNF830_uc002hih.3_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	19				AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347).	chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.12069	7.793537	15.968586	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33288358	33288358	3085	17	C	A	A	A	364	28	CCT6B	2	2
CCL23	6368	broad.mit.edu	37	17	34340259	34340259	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34340259C>T	uc002hks.1	-	c.392G>A	c.(391-393)CGG>CAG	p.R131Q	CCL23_uc002hkt.1_Missense_Mutation_p.R114Q	NM_005064	NP_005055	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8-1	114					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)									0.224719	52.559852	58.751772	20	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34340259	34340259	3020	17	C	T	T	T	299	23	CCL23	1	1
MYO19	80179	broad.mit.edu	37	17	34861146	34861146	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34861146A>G	uc010wcy.1	-	c.1895T>C	c.(1894-1896)CTC>CCC	p.L632P	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	632	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)										0.069767	-1.007733	7.208761	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34861146	34861146	10462	17	A	G	G	G	143	11	MYO19	4	4
TMEM49	81671	broad.mit.edu	37	17	57917156	57917156	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57917156G>C	uc002ixu.3	+	c.1105G>C	c.(1105-1107)GAA>CAA	p.E369Q	TMEM49_uc010wog.1_Missense_Mutation_p.E177Q|TMEM49_uc010woh.1_Missense_Mutation_p.E313Q|TMEM49_uc010woi.1_Missense_Mutation_p.E272Q|TMEM49_uc010woj.1_Missense_Mutation_p.E235Q|TMEM49_uc002ixv.2_Non-coding_Transcript|MIR21_hsa-mir-21|MI0000077_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	369	Helical; (Potential).					endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)											0.107468	92.51084	176.412624	59	490	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57917156	57917156	16712	17	G	C	C	C	585	45	TMEM49	3	3
ENPP7	339221	broad.mit.edu	37	17	77709208	77709208	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77709208G>A	uc002jxa.2	+	c.766G>A	c.(766-768)GCT>ACT	p.A256T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	256					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.081081	-0.005722	6.612465	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77709208	77709208	5328	17	G	A	A	A	546	42	ENPP7	2	2
CBX2	84733	broad.mit.edu	37	17	77753163	77753163	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77753163A>G	uc002jxc.2	+	c.119A>G	c.(118-120)CAT>CGT	p.H40R	CBX2_uc002jxb.1_Missense_Mutation_p.H40R	NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	40	Chromo.				cell differentiation|chromatin assembly or disassembly|chromatin modification|development of primary sexual characteristics|transcription, DNA-dependent		DNA binding|transcription repressor activity				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.230769	6.217938	7.082022	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77753163	77753163	2837	17	A	G	G	G	104	8	CBX2	4	4
CCDC40	55036	broad.mit.edu	37	17	78073488	78073488	+	Silent	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78073488C>A	uc010dht.2	+	c.3343C>A	c.(3343-3345)CGG>AGG	p.R1115R	CCDC40_uc002jxm.3_Silent_p.R898R|CCDC40_uc002jxn.3_Silent_p.R511R|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1115					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)											0.367347	52.822041	53.585233	18	31	KEEP	---	---	---	---	capture		Silent	SNP	78073488	78073488	2934	17	C	A	A	A	347	27	CCDC40	1	1
FAM38B	63895	broad.mit.edu	37	18	10672859	10672859	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10672859T>A	uc002kor.3	-	c.1705A>T	c.(1705-1707)ATG>TTG	p.M569L	FAM38B_uc002koq.2_Missense_Mutation_p.M404L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2612						integral to membrane	ion channel activity			ovary(1)	1														0.059701	-7.610451	19.561018	8	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10672859	10672859	5776	18	T	A	A	A	663	51	FAM38B	3	3
CDH2	1000	broad.mit.edu	37	18	25593716	25593716	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25593716C>T	uc002kwg.2	-	c.330G>A	c.(328-330)GAG>GAA	p.E110E	CDH2_uc010xbn.1_Silent_p.E79E	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	110					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.122783	135.237386	237.318296	90	643	KEEP	---	---	---	---	capture		Silent	SNP	25593716	25593716	3234	18	C	T	T	T	415	32	CDH2	2	2
RAB27B	5874	broad.mit.edu	37	18	52556570	52556570	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52556570C>T	uc002lfr.2	+	c.583C>T	c.(583-585)CCT>TCT	p.P195S		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	195					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)										0.157143	42.85966	58.561547	22	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52556570	52556570	13374	18	C	T	T	T	286	22	RAB27B	2	2
ZNF532	55205	broad.mit.edu	37	18	56620951	56620951	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56620951G>T	uc002lho.2	+	c.3070G>T	c.(3070-3072)GGG>TGG	p.G1024W	ZNF532_uc002lhp.2_Missense_Mutation_p.G1022W|ZNF532_uc010xeg.1_Missense_Mutation_p.G1022W|ZNF532_uc002lhr.2_Missense_Mutation_p.G1022W|ZNF532_uc002lhs.2_Missense_Mutation_p.G1022W|ZNF532_uc010xeh.1_Missense_Mutation_p.G116W	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1024					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.155405	43.573821	60.324425	23	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56620951	56620951	18566	18	G	T	T	T	611	47	ZNF532	2	2
SERPINB5	5268	broad.mit.edu	37	18	61170631	61170631	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61170631G>T	uc002liz.3	+	c.804G>T	c.(802-804)AAG>AAT	p.K268N		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	268					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1														0.168831	26.824192	34.82182	13	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61170631	61170631	14592	18	G	T	T	T	451	35	SERPINB5	2	2
SERPINB4	6318	broad.mit.edu	37	18	61324185	61324185	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61324185G>T	uc002ljg.2	-	c.648C>A	c.(646-648)TAC>TAA	p.Y216*	SERPINB3_uc002lji.2_Nonsense_Mutation_p.Y216*|SERPINB3_uc010dqa.2_Intron	SERPINB4		P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	216					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.094017	7.585784	26.924542	11	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61324185	61324185	14591	18	G	T	T	T	620	48	SERPINB4	5	2
LDLR	3949	broad.mit.edu	37	19	11227547	11227547	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11227547G>T	uc002mqk.3	+	c.1718G>T	c.(1717-1719)GGC>GTC	p.G573V	LDLR_uc010xlk.1_Missense_Mutation_p.G573V|LDLR_uc010xll.1_Missense_Mutation_p.G532V|LDLR_uc010xlm.1_Missense_Mutation_p.G426V|LDLR_uc010xln.1_Missense_Mutation_p.G446V|LDLR_uc010xlo.1_Missense_Mutation_p.G405V	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	573	LDL-receptor class B 5.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)	2		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GBM(18;201 575 7820 21545)				1109				0.161765	30.686606	45.229511	22	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11227547	11227547	9028	19	G	T	T	T	546	42	LDLR	2	2
LPHN1	22859	broad.mit.edu	37	19	14273658	14273658	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14273658C>T	uc010xnn.1	-	c.970G>A	c.(970-972)GTC>ATC	p.V324I	LPHN1_uc010xno.1_Missense_Mutation_p.V319I	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	324	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.263158	12.968169	13.930939	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14273658	14273658	9288	19	C	T	T	T	234	18	LPHN1	2	2
EPS15L1	58513	broad.mit.edu	37	19	16472709	16472709	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16472709C>A	uc002ndx.2	-	c.2467G>T	c.(2467-2469)GAC>TAC	p.D823Y	EPS15L1_uc002ndy.2_Non-coding_Transcript|EPS15L1_uc010xpe.1_3'UTR|EPS15L1_uc002ndz.1_Missense_Mutation_p.D823Y|EPS15L1_uc010xpf.1_Missense_Mutation_p.D726Y|EPS15L1_uc002nea.1_3'UTR|EPS15L1_uc010eah.1_3'UTR	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	823	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)	3														0.147059	6.136442	10.253637	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16472709	16472709	5386	19	C	A	A	A	403	31	EPS15L1	1	1
THEG	51298	broad.mit.edu	37	19	367181	367181	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:367181G>C	uc002lol.2	-	c.797C>G	c.(796-798)TCG>TGG	p.S266W	THEG_uc002lom.2_Missense_Mutation_p.S242W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	266	THEG 4.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.090909	3.32406	8.868473	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	367181	367181	16385	19	G	C	C	C	481	37	THEG	3	3
ZFP14	57677	broad.mit.edu	37	19	36831147	36831147	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36831147C>G	uc010xtd.1	-	c.1584G>C	c.(1582-1584)CAG>CAC	p.Q528H	ZFP14_uc002odx.1_Missense_Mutation_p.Q527H|ZFP14_uc010eex.1_Missense_Mutation_p.Q527H	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	527	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)													0.09375	10.809159	26.724953	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36831147	36831147	18227	19	C	G	G	G	415	32	ZFP14	3	3
ZNF540	163255	broad.mit.edu	37	19	38102901	38102901	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38102901G>C	uc002ogq.2	+	c.720G>C	c.(718-720)GAG>GAC	p.E240D	ZNF540_uc002ogu.2_Missense_Mutation_p.E240D|ZNF540_uc010efq.2_Missense_Mutation_p.E208D	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.080645	3.323352	14.438069	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38102901	38102901	18569	19	G	C	C	C	425	33	ZNF540	3	3
RYR1	6261	broad.mit.edu	37	19	38958369	38958369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38958369C>A	uc002oit.2	+	c.3298C>A	c.(3298-3300)CGC>AGC	p.R1100S	RYR1_uc002oiu.2_Missense_Mutation_p.R1100S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1100	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.155844	93.954166	128.760687	48	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38958369	38958369	14248	19	C	A	A	A	351	27	RYR1	1	1
SELV	348303	broad.mit.edu	37	19	40009752	40009752	+	Silent	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40009752T>A	uc010xvc.1	+	c.1005T>A	c.(1003-1005)ATT>ATA	p.I335I		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	335					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.177778	18.472107	22.871754	8	37	KEEP	---	---	---	---	capture		Silent	SNP	40009752	40009752	14509	19	T	A	A	A	809	63	SELV	3	3
PSG7	5676	broad.mit.edu	37	19	43430703	43430703	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43430703T>A	uc002ovl.3	-	c.875A>T	c.(874-876)AAC>ATC	p.N292I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.N170I	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	292	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.121053	83.772836	164.082953	69	501	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43430703	43430703	13113	19	T	A	A	A	780	60	PSG7	3	3
KLK11	11012	broad.mit.edu	37	19	51527394	51527394	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51527394A>G	uc002pvd.1	-	c.466T>C	c.(466-468)TGG>CGG	p.W156R	KLK11_uc002pvb.1_Missense_Mutation_p.W149R|KLK11_uc002pve.1_Missense_Mutation_p.W13R|KLK11_uc002pvf.1_Missense_Mutation_p.W124R|KLK11_uc002pvc.3_Missense_Mutation_p.W124R|KLK11_uc010eom.2_3'UTR	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	156	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)										0.202614	62.545789	75.111646	31	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51527394	51527394	8713	19	A	G	G	G	91	7	KLK11	4	4
VN1R2	317701	broad.mit.edu	37	19	53761893	53761893	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53761893G>T	uc002qbi.2	+	c.265G>T	c.(265-267)GGG>TGG	p.G89W		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	89	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)										0.193548	12.637353	15.350492	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53761893	53761893	17746	19	G	T	T	T	559	43	VN1R2	2	2
CACNG8	59283	broad.mit.edu	37	19	54466477	54466477	+	Silent	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54466477C>G	uc002qcs.1	+	c.78C>G	c.(76-78)GGC>GGG	p.G26G		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	27	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|postsynaptic density|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)										0.25	10.115305	11.009188	4	12	KEEP	---	---	---	---	capture		Silent	SNP	54466477	54466477	2679	19	C	G	G	G	340	27	CACNG8	3	3
ZSCAN4	201516	broad.mit.edu	37	19	58190008	58190008	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58190008A>G	uc002qpu.2	+	c.1037A>G	c.(1036-1038)CAA>CGA	p.Q346R		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	346	C2H2-type 2.				regulation of transcription, DNA-dependent|telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.208791	45.787414	52.924077	19	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58190008	58190008	18841	19	A	G	G	G	65	5	ZSCAN4	4	4
OR2Z1	284383	broad.mit.edu	37	19	8841802	8841802	+	Missense_Mutation	SNP	C	T	T	rs58741481	by1000genomes	TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8841802C>T	uc010xkg.1	+	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.134328	29.258467	46.635131	18	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8841802	8841802	11442	19	C	T	T	T	247	19	OR2Z1	1	1
MUC16	94025	broad.mit.edu	37	19	9087721	9087721	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9087721G>T	uc002mkp.2	-	c.4094C>A	c.(4093-4095)TCT>TAT	p.S1365Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1365	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														0.125	41.216642	79.708941	35	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9087721	9087721	10367	19	G	T	T	T	429	33	MUC16	2	2
EPS8L3	79574	broad.mit.edu	37	1	110293388	110293388	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110293388G>A	uc001dyq.1	-	c.1667C>T	c.(1666-1668)ACG>ATG	p.T556M	EPS8L3_uc001dys.1_Missense_Mutation_p.T525M|EPS8L3_uc001dyr.1_Missense_Mutation_p.T555M|EPS8L3_uc009wfm.1_Missense_Mutation_p.T492M	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	555						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)										0.323944	57.490439	59.451417	23	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110293388	110293388	5390	1	G	A	A	A	520	40	EPS8L3	1	1
BCL9	607	broad.mit.edu	37	1	147094256	147094256	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147094256C>G	uc001epq.2	+	c.3087C>G	c.(3085-3087)ATC>ATG	p.I1029M	BCL9_uc010ozr.1_Missense_Mutation_p.I955M	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1029	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.048913	-53.62964	65.704718	27	525	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147094256	147094256	1402	1	C	G	G	G	369	29	BCL9	3	3
SEMA6C	10500	broad.mit.edu	37	1	151111935	151111935	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151111935T>A	uc001ewv.2	-	c.320A>T	c.(319-321)GAT>GTT	p.D107V	SEMA6C_uc001ewu.2_Missense_Mutation_p.D107V|SEMA6C_uc001eww.2_Missense_Mutation_p.D107V|SEMA6C_uc010pcq.1_Missense_Mutation_p.D107V|SEMA6C_uc009wml.1_Non-coding_Transcript	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	107	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)											0.043478	-24.342516	16.7402	8	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151111935	151111935	14527	1	T	A	A	A	650	50	SEMA6C	3	3
FLG2	388698	broad.mit.edu	37	1	152328427	152328427	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328427C>G	uc001ezw.3	-	c.1835G>C	c.(1834-1836)AGA>ACA	p.R612T		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	612	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.120968	103.21981	173.112746	60	436	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152328427	152328427	6161	1	C	G	G	G	416	32	FLG2	3	3
LCE1C	353133	broad.mit.edu	37	1	152777925	152777925	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152777925G>A	uc001fap.1	-	c.30C>T	c.(28-30)TGC>TGT	p.C10C		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	10					keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.060606	-7.031096	12.938779	6	93	KEEP	---	---	---	---	capture		Silent	SNP	152777925	152777925	8984	1	G	A	A	A	542	42	LCE1C	2	2
CD5L	922	broad.mit.edu	37	1	157805761	157805761	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157805761C>A	uc001frk.3	-	c.240G>T	c.(238-240)GAG>GAT	p.E80D		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	80	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.104308	35.208556	103.929319	46	395	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157805761	157805761	3155	1	C	A	A	A	363	28	CD5L	2	2
ASPM	259266	broad.mit.edu	37	1	197074076	197074076	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197074076C>T	uc001gtu.2	-	c.4305G>A	c.(4303-4305)AAG>AAA	p.K1435K	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1435					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.065217	-5.828315	12.237441	6	86	KEEP	---	---	---	---	capture		Silent	SNP	197074076	197074076	1075	1	C	T	T	T	363	28	ASPM	2	2
CAMSAP1L1	23271	broad.mit.edu	37	1	200818276	200818276	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200818276G>C	uc001gvl.2	+	c.2412G>C	c.(2410-2412)AAG>AAC	p.K804N	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K793N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K777N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	804						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4														0.117647	47.434213	81.62758	28	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200818276	200818276	2729	1	G	C	C	C	425	33	CAMSAP1L1	3	3
CR2	1380	broad.mit.edu	37	1	207648401	207648401	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207648401C>T	uc001hfv.2	+	c.2556C>T	c.(2554-2556)GTC>GTT	p.V852V	CR2_uc001hfw.2_Silent_p.V793V|CR2_uc009xch.2_Silent_p.V793V	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	917	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.088235	5.180964	45.993917	21	217	KEEP	---	---	---	---	capture		Silent	SNP	207648401	207648401	3981	1	C	T	T	T	366	29	CR2	2	2
TRAF5	7188	broad.mit.edu	37	1	211529716	211529716	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211529716A>C	uc010psx.1	+	c.284A>C	c.(283-285)AAA>ACA	p.K95T	TRAF5_uc001hih.2_Missense_Mutation_p.K95T|TRAF5_uc001hii.2_Missense_Mutation_p.K95T|TRAF5_uc010psy.1_Missense_Mutation_p.K95T|TRAF5_uc001hij.2_Missense_Mutation_p.K95T	NM_145759	NP_665702	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	95					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|cytoplasm|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)										0.164021	68.669965	89.006216	31	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211529716	211529716	16988	1	A	C	C	C	13	1	TRAF5	4	4
EPHA8	2046	broad.mit.edu	37	1	22927468	22927468	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22927468C>T	uc001bfx.1	+	c.2616C>T	c.(2614-2616)CTC>CTT	p.L872L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	872	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)					p.L872L(JVM3-Tumor)	520				0.184615	25.562516	31.625761	12	53	KEEP	---	---	---	---	capture		Silent	SNP	22927468	22927468	5366	1	C	T	T	T	392	31	EPHA8	1	1
NLRP3	114548	broad.mit.edu	37	1	247586536	247586536	+	Silent	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247586536A>C	uc001icr.2	+	c.288A>C	c.(286-288)TCA>TCC	p.S96S	NLRP3_uc001ics.2_Silent_p.S96S|NLRP3_uc001icu.2_Silent_p.S96S|NLRP3_uc001icw.2_Silent_p.S96S|NLRP3_uc001icv.2_Silent_p.S96S|NLRP3_uc010pyw.1_Silent_p.S94S|NLRP3_uc001ict.1_Silent_p.S94S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	96					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.188742	125.949912	153.299946	57	245	KEEP	---	---	---	---	capture		Silent	SNP	247586536	247586536	10881	1	A	C	C	C	80	7	NLRP3	4	4
OR1C1	26188	broad.mit.edu	37	1	247920884	247920884	+	Silent	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247920884G>T	uc010pza.1	-	c.825C>A	c.(823-825)ACC>ACA	p.T275T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.26087	225.700528	242.338227	84	238	KEEP	---	---	---	---	capture		Silent	SNP	247920884	247920884	11358	1	G	T	T	T	600	47	OR1C1	2	2
TRIM58	25893	broad.mit.edu	37	1	248028109	248028109	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248028109G>T	uc001ido.2	+	c.619G>T	c.(619-621)GAG>TAG	p.E207*		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	207	Potential.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.176471	10.626751	13.983702	6	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248028109	248028109	17077	1	G	T	T	T	533	41	TRIM58	5	2
OR2T33	391195	broad.mit.edu	37	1	248436666	248436666	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436666C>T	uc010pzi.1	-	c.451G>A	c.(451-453)GCA>ACA	p.A151T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.093496	5.9733	46.838708	23	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248436666	248436666	11430	1	C	T	T	T	325	25	OR2T33	2	2
EIF2C3	192669	broad.mit.edu	37	1	36411406	36411406	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36411406G>A	uc001bzp.2	+	c.133G>A	c.(133-135)GAT>AAT	p.D45N	EIF2C3_uc001bzn.1_Missense_Mutation_p.D45N|EIF2C3_uc001bzo.2_Non-coding_Transcript|EIF2C3_uc001bzq.2_5'UTR	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	45					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				Colon(144;60 2363 31043 40539)								0.042105	-13.385493	8.011509	4	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36411406	36411406	5196	1	G	A	A	A	585	45	EIF2C3	2	2
CHD5	26038	broad.mit.edu	37	1	6202265	6202265	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6202265G>A	uc001amb.1	-	c.2359C>T	c.(2359-2361)CGC>TGC	p.R787C	CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	787	Helicase ATP-binding.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.074074	-1.356018	13.683579	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6202265	6202265	3462	1	G	A	A	A	507	39	CHD5	1	1
PLEKHG5	57449	broad.mit.edu	37	1	6529654	6529654	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6529654C>T	uc001anp.1	-	c.2114G>A	c.(2113-2115)AGG>AAG	p.R705K	PLEKHG5_uc001ann.1_Missense_Mutation_p.R665K|PLEKHG5_uc001ano.1_Missense_Mutation_p.R684K|PLEKHG5_uc001anq.1_Missense_Mutation_p.R705K|PLEKHG5_uc001anj.1_Missense_Mutation_p.R189K|PLEKHG5_uc009vma.1_Missense_Mutation_p.R468K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R697K|PLEKHG5_uc001ank.1_Missense_Mutation_p.R628K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R628K|PLEKHG5_uc001anl.1_Missense_Mutation_p.R628K|PLEKHG5_uc001anm.1_Missense_Mutation_p.R628K|PLEKHG5_uc001anr.1_5'Flank	NM_198681	NP_941374	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	684	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)										0.168675	25.260658	33.960401	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6529654	6529654	12499	1	C	T	T	T	312	24	PLEKHG5	2	2
FPGT	8790	broad.mit.edu	37	1	74670318	74670318	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74670318G>A	uc001dgb.1	+	c.587G>A	c.(586-588)AGT>AAT	p.S196N	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	196					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding				0														0.13242	45.60984	74.364831	29	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74670318	74670318	6283	1	G	A	A	A	468	36	FPGT	2	2
SLC44A5	204962	broad.mit.edu	37	1	75716951	75716951	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75716951G>A	uc010oqz.1	-	c.406C>T	c.(406-408)CTG>TTG	p.L136L	SLC44A5_uc001dgt.2_Silent_p.L97L|SLC44A5_uc001dgs.2_Silent_p.L55L|SLC44A5_uc001dgr.2_Silent_p.L55L|SLC44A5_uc001dgu.2_Silent_p.L97L|SLC44A5_uc010ora.1_Silent_p.L91L|SLC44A5_uc010orb.1_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	97	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.0625	-7.758961	17.741929	8	120	KEEP	---	---	---	---	capture		Silent	SNP	75716951	75716951	15136	1	G	A	A	A	451	35	SLC44A5	2	2
RERE	473	broad.mit.edu	37	1	8416207	8416207	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8416207A>C	uc001ape.2	-	c.4439T>G	c.(4438-4440)CTT>CGT	p.L1480R	RERE_uc001apf.2_Missense_Mutation_p.L1480R|RERE_uc001apd.2_Missense_Mutation_p.L926R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1480	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)										0.133333	5.929475	13.844383	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8416207	8416207	13700	1	A	C	C	C	39	3	RERE	4	4
IDH3B	3420	broad.mit.edu	37	20	2639447	2639447	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2639447T>C	uc002wgp.2	-	c.1108A>G	c.(1108-1110)ACC>GCC	p.T370A	IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.T218A	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	370					isocitrate metabolic process|response to stimulus|tricarboxylic acid cycle|visual perception	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)									0.125	24.022841	40.569523	15	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2639447	2639447	7797	20	T	C	C	C	780	60	IDH3B	4	4
PTPRA	5786	broad.mit.edu	37	20	2968709	2968709	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2968709T>A	uc010zqd.1	+	c.592T>A	c.(592-594)TCC>ACC	p.S198T	PTPRA_uc002whj.2_Missense_Mutation_p.S187T|PTPRA_uc010zqb.1_3'UTR|PTPRA_uc010zqc.1_Missense_Mutation_p.S72T|PTPRA_uc002whk.2_Missense_Mutation_p.S178T|PTPRA_uc002whl.2_Missense_Mutation_p.S178T|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.S178T|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	178	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.144737	64.81897	101.736738	44	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2968709	2968709	13252	20	T	A	A	A	806	62	PTPRA	3	3
PTPRA	5786	broad.mit.edu	37	20	2968983	2968983	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2968983G>A	uc010zqd.1	+	c.635_splice	c.e8-1	p.E212_splice	PTPRA_uc002whj.2_Splice_Site_SNP_p.E201_splice|PTPRA_uc010zqc.1_Splice_Site_SNP_p.E86_splice|PTPRA_uc002whk.2_Splice_Site_SNP_p.E192_splice|PTPRA_uc002whl.2_Splice_Site_SNP_p.E192_splice|PTPRA_uc002whm.2_Splice_Site_SNP|PTPRA_uc002whn.2_Splice_Site_SNP_p.E192_splice|PTPRA_uc002who.2_Splice_Site_SNP	NM_002836	NP_002827			protein tyrosine phosphatase, receptor type, A						axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.159722	46.946708	62.815861	23	121	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2968983	2968983	13252	20	G	A	A	A	429	33	PTPRA	5	2
SLC4A11	83959	broad.mit.edu	37	20	3214930	3214930	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3214930T>C	uc010zqe.1	-	c.451A>G	c.(451-453)ATC>GTC	p.I151V	SLC4A11_uc002wig.2_Missense_Mutation_p.I124V|SLC4A11_uc002wih.2_Non-coding_Transcript|SLC4A11_uc010zqf.1_Missense_Mutation_p.I108V	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	124	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						NSCLC(190;922 2139 10266 10292 38692)								0.255814	30.709056	33.031842	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3214930	3214930	15149	20	T	C	C	C	650	50	SLC4A11	4	4
ZBTB46	140685	broad.mit.edu	37	20	62407080	62407080	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62407080G>A	uc002ygv.1	-	c.1173C>T	c.(1171-1173)GAC>GAT	p.D391D	ZBTB46_uc002ygu.2_Non-coding_Transcript	NM_025224	NP_079500	Q6ZMU8	Q6ZMU8_HUMAN	zinc finger and BTB domain containing 46	391						nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.085714	0.746682	6.792239	3	32	KEEP	---	---	---	---	capture		Silent	SNP	62407080	62407080	18134	20	G	A	A	A	516	40	ZBTB46	1	1
KRTAP10-8	386681	broad.mit.edu	37	21	46032170	46032170	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46032170C>T	uc002zfo.1	+	c.153C>T	c.(151-153)TGC>TGT	p.C51C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	51	19 X 5 AA repeats of C-C-X(3).|1.					keratin filament				large_intestine(1)|breast(1)	2														0.312883	133.319053	138.374444	51	112	KEEP	---	---	---	---	capture		Silent	SNP	46032170	46032170	8830	21	C	T	T	T	350	27	KRTAP10-8	1	1
LZTR1	8216	broad.mit.edu	37	22	21349176	21349176	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21349176C>G	uc002zto.2	+	c.1803C>G	c.(1801-1803)TTC>TTG	p.F601L	LZTR1_uc002ztn.2_Missense_Mutation_p.F560L|LZTR1_uc011ahy.1_Missense_Mutation_p.F582L|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	601					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)							1299				0.107143	7.708606	16.284212	6	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21349176	21349176	9514	22	C	G	G	G	402	31	LZTR1	3	3
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258349	45258349	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45258349G>A	uc003bfd.2	+	c.1806G>A	c.(1804-1806)CTG>CTA	p.L602L	PRR5-ARHGAP8_uc003bfc.2_Silent_p.L523L|PRR5-ARHGAP8_uc011aqi.1_Silent_p.L514L|PRR5-ARHGAP8_uc011aqj.1_Silent_p.L445L|ARHGAP8_uc010gzv.2_3'UTR|ARHGAP8_uc003bfj.2_Silent_p.L423L|ARHGAP8_uc003bfk.2_Silent_p.L392L|ARHGAP8_uc003bfl.2_Non-coding_Transcript	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2												0														0.115385	5.410949	12.997934	6	46	KEEP	---	---	---	---	capture		Silent	SNP	45258349	45258349	13050	22	G	A	A	A	600	47	PRR5-ARHGAP8	2	2
NCKAP5	344148	broad.mit.edu	37	2	133489353	133489353	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133489353C>T	uc002ttp.2	-	c.5400G>A	c.(5398-5400)GGG>GGA	p.G1800G	NCKAP5_uc002ttq.2_Silent_p.G481G	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1800							protein binding				0														0.120567	22.585987	42.482246	17	124	KEEP	---	---	---	---	capture		Silent	SNP	133489353	133489353	10622	2	C	T	T	T	379	30	NCKAP5	2	2
LRP1B	53353	broad.mit.edu	37	2	141130658	141130658	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141130658C>A	uc002tvj.1	-	c.10687G>T	c.(10687-10689)GGT>TGT	p.G3563C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3563	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.201365	131.024695	155.351486	59	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141130658	141130658	9328	2	C	A	A	A	273	21	LRP1B	2	2
MYO3B	140469	broad.mit.edu	37	2	171258115	171258115	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171258115C>T	uc002ufy.2	+	c.2043C>T	c.(2041-2043)GAC>GAT	p.D681D	MYO3B_uc002ufv.2_Silent_p.D668D|MYO3B_uc010fqb.1_Silent_p.D668D|MYO3B_uc002ufz.2_Silent_p.D681D|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	681	Myosin head-like.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.05	-28.223363	23.289274	12	228	KEEP	---	---	---	---	capture		Silent	SNP	171258115	171258115	10472	2	C	T	T	T	246	19	MYO3B	1	1
TTN	7273	broad.mit.edu	37	2	179393630	179393630	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179393630C>A	uc010zfg.1	-	c.99144G>T	c.(99142-99144)ATG>ATT	p.M33048I	TTN_uc010zfh.1_Missense_Mutation_p.M26743I|TTN_uc010zfi.1_Missense_Mutation_p.M26676I|TTN_uc010zfj.1_Missense_Mutation_p.M26551I|TTN_uc002umq.2_Missense_Mutation_p.M65I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1752										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			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.071429	-4.993935	24.151119	11	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179393630	179393630	17290	2	C	A	A	A	377	29	TTN	2	2
COL5A2	1290	broad.mit.edu	37	2	189904079	189904079	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189904079T>C	uc002uqk.2	-	c.3844A>G	c.(3844-3846)ATG>GTG	p.M1282V	COL5A2_uc010frx.2_Missense_Mutation_p.M858V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1282	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.158621	38.834691	54.943294	23	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189904079	189904079	3835	2	T	C	C	C	663	51	COL5A2	4	4
STK17B	9262	broad.mit.edu	37	2	197002250	197002250	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197002250C>A	uc002utk.2	-	c.1040G>T	c.(1039-1041)AGC>ATC	p.S347I	STK17B_uc010fsh.2_Missense_Mutation_p.S347I	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	347					apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)							94				0.241573	103.828711	114.681014	43	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197002250	197002250	15811	2	C	A	A	A	364	28	STK17B	2	2
AOX1	316	broad.mit.edu	37	2	201464399	201464399	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201464399G>A	uc002uvx.2	+	c.366G>A	c.(364-366)GTG>GTA	p.V122V		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	122					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.10219	8.860975	30.474063	14	123	KEEP	---	---	---	---	capture		Silent	SNP	201464399	201464399	739	2	G	A	A	A	574	45	AOX1	2	2
CASP10	843	broad.mit.edu	37	2	202074033	202074033	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202074033G>C	uc002uxj.1	+	c.1163G>C	c.(1162-1164)AGA>ACA	p.R388T	CASP10_uc002uxk.1_Missense_Mutation_p.R345T|CASP10_uc010fta.1_Missense_Mutation_p.R321T|CASP10_uc002uxl.1_Missense_Mutation_p.R388T|CASP10_uc002uxm.1_Missense_Mutation_p.R345T|CASP10_uc010ftb.1_Non-coding_Transcript	NM_032977	NP_116759	Q92851	CASPA_HUMAN	caspase 10 isoform d preproprotein	388					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)	5										219				0.101351	20.047743	43.479389	15	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202074033	202074033	2788	2	G	C	C	C	429	33	CASP10	3	3
APOB	338	broad.mit.edu	37	2	21257726	21257726	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21257726T>C	uc002red.2	-	c.866A>G	c.(865-867)GAA>GGA	p.E289G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	289	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.130058	78.552227	124.614309	45	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21257726	21257726	796	2	T	C	C	C	806	62	APOB	4	4
CDK5R2	8941	broad.mit.edu	37	2	219825306	219825306	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219825306C>A	uc002vjf.2	+	c.764C>A	c.(763-765)GCC>GAC	p.A255D		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	255					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.08	-8.915853	27.125593	16	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219825306	219825306	3273	2	C	A	A	A	338	26	CDK5R2	2	2
ANKMY1	51281	broad.mit.edu	37	2	241468860	241468860	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241468860C>T	uc010fzd.1	-	c.547G>A	c.(547-549)GTG>ATG	p.V183M	ANKMY1_uc002vyz.1_Missense_Mutation_p.V94M|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	94							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)										0.258065	19.586865	21.230504	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241468860	241468860	637	2	C	T	T	T	247	19	ANKMY1	1	1
LTBP1	4052	broad.mit.edu	37	2	33614353	33614353	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33614353A>T	uc002ros.2	+	c.4817A>T	c.(4816-4818)GAT>GTT	p.D1606V	LTBP1_uc002rot.2_Missense_Mutation_p.D1280V|LTBP1_uc002rou.2_Missense_Mutation_p.D1279V|LTBP1_uc002rov.2_Missense_Mutation_p.D1226V|LTBP1_uc010ymz.1_Missense_Mutation_p.D1237V|LTBP1_uc010yna.1_Missense_Mutation_p.D1184V|LTBP1_uc010ynb.1_Missense_Mutation_p.D503V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1605					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.148305	58.595234	86.597332	35	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33614353	33614353	9449	2	A	T	T	T	156	12	LTBP1	3	3
BCL11A	53335	broad.mit.edu	37	2	60688844	60688844	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60688844G>A	uc002sae.1	-	c.1203C>T	c.(1201-1203)GGC>GGT	p.G401G	BCL11A_uc002sab.2_Silent_p.G401G|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.G70G|BCL11A_uc010ypj.1_Silent_p.G367G|BCL11A_uc002sad.1_Silent_p.G249G|BCL11A_uc002saf.1_Silent_p.G367G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	401					protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.060606	-13.183426	13.48043	8	124	KEEP	---	---	---	---	capture		Silent	SNP	60688844	60688844	1384	2	G	A	A	A	483	38	BCL11A	1	1
USP34	9736	broad.mit.edu	37	2	61577741	61577741	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61577741G>A	uc002sbe.2	-	c.1339C>T	c.(1339-1341)CTG>TTG	p.L447L		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	447					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.043478	-11.358142	9.167433	4	88	KEEP	---	---	---	---	capture		Silent	SNP	61577741	61577741	17629	2	G	A	A	A	425	33	USP34	2	2
RNF144A	9781	broad.mit.edu	37	2	7164554	7164554	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:7164554C>T	uc002qys.2	+	c.564C>T	c.(562-564)TGC>TGT	p.C188C	RNF144A_uc002qyt.2_Silent_p.C37C	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	188	RING-type 2; degenerate.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)										0.096774	2.505195	12.608369	6	56	KEEP	---	---	---	---	capture		Silent	SNP	7164554	7164554	13922	2	C	T	T	T	324	25	RNF144A	2	2
SLC4A5	57835	broad.mit.edu	37	2	74477526	74477526	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74477526T>C	uc002sko.1	-	c.1597A>G	c.(1597-1599)ATC>GTC	p.I533V	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.2_Missense_Mutation_p.I533V|SLC4A5_uc010ffc.1_Missense_Mutation_p.I533V|SLC4A5_uc002skp.1_Missense_Mutation_p.I469V|SLC4A5_uc002sks.1_Missense_Mutation_p.I533V	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	533	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7												OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.034146	-33.620897	14.795752	7	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74477526	74477526	15154	2	T	C	C	C	637	49	SLC4A5	4	4
ANKRD36B	57730	broad.mit.edu	37	2	98129748	98129748	+	Silent	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98129748T>G	uc010yvc.1	-	c.2700A>C	c.(2698-2700)ATA>ATC	p.I900I	ANKRD36B_uc010fid.1_5'Flank|ANKRD36B_uc002sxx.1_5'Flank|ANKRD36B_uc010yvd.1_5'UTR	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	900	Potential.										0														0.109091	9.837878	18.135829	6	49	KEEP	---	---	---	---	capture		Silent	SNP	98129748	98129748	674	2	T	G	G	G	784	61	ANKRD36B	4	4
DPPA2	151871	broad.mit.edu	37	3	109027099	109027099	+	Silent	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:109027099A>G	uc003dxo.2	-	c.438T>C	c.(436-438)TGT>TGC	p.C146C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	146						nucleus	nucleic acid binding			ovary(2)	2														0.158537	27.926177	37.035281	13	69	KEEP	---	---	---	---	capture		Silent	SNP	109027099	109027099	4918	3	A	G	G	G	24	2	DPPA2	4	4
ZBTB20	26137	broad.mit.edu	37	3	114070151	114070151	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:114070151C>G	uc003ebi.2	-	c.774G>C	c.(772-774)GAG>GAC	p.E258D	ZBTB20_uc003ebj.2_Missense_Mutation_p.E185D|ZBTB20_uc010hqp.2_Missense_Mutation_p.E185D|ZBTB20_uc003ebk.2_Missense_Mutation_p.E185D|ZBTB20_uc003ebl.2_Missense_Mutation_p.E185D|ZBTB20_uc003ebm.2_Missense_Mutation_p.E185D|ZBTB20_uc003ebn.2_Missense_Mutation_p.E185D	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		NSCLC(69;748 1344 9802 11203 30933)								0.042735	-14.680199	11.521133	5	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114070151	114070151	18115	3	C	G	G	G	363	28	ZBTB20	3	3
GPR156	165829	broad.mit.edu	37	3	119905545	119905545	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119905545T>C	uc011bjf.1	-	c.560A>G	c.(559-561)GAT>GGT	p.D187G	GPR156_uc011bjg.1_Missense_Mutation_p.D187G	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	187	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.19)										0.0875	11.372361	52.612713	21	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119905545	119905545	6936	3	T	C	C	C	650	50	GPR156	4	4
COL6A6	131873	broad.mit.edu	37	3	130290029	130290029	+	Silent	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130290029C>A	uc010htl.2	+	c.2769C>A	c.(2767-2769)TCC>TCA	p.S923S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	923	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.073171	-2.2193	28.491892	12	152	KEEP	---	---	---	---	capture		Silent	SNP	130290029	130290029	3841	3	C	A	A	A	275	22	COL6A6	2	2
P2RY1	5028	broad.mit.edu	37	3	152553814	152553814	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:152553814G>A	uc003ezq.2	+	c.243G>A	c.(241-243)AAG>AAA	p.K81K		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	81	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)											0.134146	12.7845	23.434322	11	71	KEEP	---	---	---	---	capture		Silent	SNP	152553814	152553814	11759	3	G	A	A	A	438	34	P2RY1	2	2
LEKR1	389170	broad.mit.edu	37	3	156742693	156742693	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156742693C>A	uc003fba.1	+	c.436C>A	c.(436-438)CAA>AAA	p.Q146K		NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	114											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)											0.147368	24.982309	36.332418	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156742693	156742693	9041	3	C	A	A	A	221	17	LEKR1	2	2
SMC4	10051	broad.mit.edu	37	3	160120513	160120513	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160120513T>C	uc003fdh.2	+	c.368T>C	c.(367-369)ATT>ACT	p.I123T	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.I123T|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.I98T|SMC4_uc003fdj.2_Missense_Mutation_p.I123T|SMC4_uc010hwd.2_Missense_Mutation_p.I123T|MIR15B_hsa-mir-15b|MI0000438_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	123					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.14966	47.560944	64.857254	22	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160120513	160120513	15283	3	T	C	C	C	676	52	SMC4	4	4
KPNA4	3840	broad.mit.edu	37	3	160243897	160243897	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160243897T>A	uc003fdn.2	-	c.557_splice	c.e9-1	p.G186_splice		NM_002268	NP_002259			karyopherin alpha 4						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)											0.165217	43.456868	55.684122	19	96	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	160243897	160243897	8746	3	T	A	A	A	715	55	KPNA4	5	3
SI	6476	broad.mit.edu	37	3	164758796	164758796	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164758796G>A	uc003fei.2	-	c.2091C>T	c.(2089-2091)CCC>CCT	p.P697P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	697	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.229097	369.262521	409.439606	137	461	KEEP	---	---	---	---	capture		Silent	SNP	164758796	164758796	14792	3	G	A	A	A	444	35	SI	2	2
HTR3C	170572	broad.mit.edu	37	3	183772675	183772675	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183772675G>A	uc003fmk.2	+	c.234G>A	c.(232-234)GTG>GTA	p.V78V		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	78	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)											0.297619	63.137263	66.216436	25	59	KEEP	---	---	---	---	capture		Silent	SNP	183772675	183772675	7746	3	G	A	A	A	600	47	HTR3C	2	2
RARB	5915	broad.mit.edu	37	3	25215902	25215902	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25215902G>A	uc011awl.1	+	c.14G>A	c.(13-15)GGC>GAC	p.G5D		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	5	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|pancreas(1)	2					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)					250				0.093923	18.211369	78.175461	34	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25215902	25215902	13513	3	G	A	A	A	534	42	RARB	2	2
DOCK3	1795	broad.mit.edu	37	3	51400017	51400017	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51400017G>A	uc011bds.1	+	c.5205G>A	c.(5203-5205)TCG>TCA	p.S1735S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)						1034				0.191781	28.906312	35.386893	14	59	KEEP	---	---	---	---	capture		Silent	SNP	51400017	51400017	4872	3	G	A	A	A	509	40	DOCK3	1	1
TTLL3	26140	broad.mit.edu	37	3	9877074	9877074	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9877074G>C	uc003btg.2	+	c.2220G>C	c.(2218-2220)AAG>AAC	p.K740N	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	740					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)													0.153846	73.836427	99.131304	34	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9877074	9877074	17283	3	G	C	C	C	425	33	TTLL3	3	3
C4orf21	55345	broad.mit.edu	37	4	113533734	113533734	+	Silent	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113533734T>G	uc003iau.2	-	c.2613A>C	c.(2611-2613)CCA>CCC	p.P871P	C4orf21_uc003iaw.2_Silent_p.P871P	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.082192	1.383182	14.39386	6	67	KEEP	---	---	---	---	capture		Silent	SNP	113533734	113533734	2349	4	T	G	G	G	652	51	C4orf21	4	4
KIAA1109	84162	broad.mit.edu	37	4	123122203	123122203	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123122203C>T	uc003ieh.2	+	c.1420C>T	c.(1420-1422)CCG>TCG	p.P474S	KIAA1109_uc003iei.1_Missense_Mutation_p.P228S|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	474					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.102857	15.217772	42.718538	18	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123122203	123122203	8516	4	C	T	T	T	338	26	KIAA1109	2	2
PCDH18	54510	broad.mit.edu	37	4	138450846	138450846	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138450846G>C	uc003ihe.3	-	c.2397C>G	c.(2395-2397)CAC>CAG	p.H799Q	PCDH18_uc003ihf.3_Missense_Mutation_p.H792Q|PCDH18_uc011cgz.1_Missense_Mutation_p.H10Q|PCDH18_uc003ihg.3_Missense_Mutation_p.H579Q|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	799	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.04902	-9.142632	12.826141	5	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138450846	138450846	11933	4	G	C	C	C	568	44	PCDH18	3	3
HTT	3064	broad.mit.edu	37	4	3189587	3189587	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3189587G>C	uc011bvq.1	+	c.5205G>C	c.(5203-5205)AAG>AAC	p.K1735N		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1733					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			ovary(1)|lung(1)	2		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)										0.130719	39.693846	59.984241	20	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3189587	3189587	7757	4	G	C	C	C	425	33	HTT	3	3
APBB2	323	broad.mit.edu	37	4	40936703	40936703	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40936703G>A	uc003gvn.2	-	c.1121C>T	c.(1120-1122)GCC>GTC	p.A374V	APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.A352V|APBB2_uc003gvl.2_Missense_Mutation_p.A373V|APBB2_uc011byt.1_Missense_Mutation_p.A335V	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	373					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						Ovarian(3;20 75 16686 49997)								0.076923	-0.706505	6.44115	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40936703	40936703	771	4	G	A	A	A	546	42	APBB2	2	2
SPATA18	132671	broad.mit.edu	37	4	52943204	52943204	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52943204G>C	uc003gzl.2	+	c.1018G>C	c.(1018-1020)GTG>CTG	p.V340L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Missense_Mutation_p.V308L|SPATA18_uc003gzk.1_Missense_Mutation_p.V340L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	340					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)											0.09375	3.021386	8.310492	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52943204	52943204	15511	4	G	C	C	C	468	36	SPATA18	3	3
KIAA1211	57482	broad.mit.edu	37	4	57182422	57182422	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57182422G>A	uc003hbk.2	+	c.2754G>A	c.(2752-2754)AGG>AGA	p.R918R	KIAA1211_uc010iha.2_Silent_p.R911R|KIAA1211_uc011bzz.1_Silent_p.R828R|KIAA1211_uc003hbm.1_Silent_p.R804R	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	918										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.107143	6.329865	14.886755	6	50	KEEP	---	---	---	---	capture		Silent	SNP	57182422	57182422	8523	4	G	A	A	A	555	43	KIAA1211	2	2
YTHDC1	91746	broad.mit.edu	37	4	69203448	69203448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69203448G>A	uc003hdx.2	-	c.301C>T	c.(301-303)CAA>TAA	p.Q101*	YTHDC1_uc003hdy.2_Nonsense_Mutation_p.Q101*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	101										ovary(1)	1														0.142857	21.736005	34.698071	15	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69203448	69203448	18079	4	G	A	A	A	585	45	YTHDC1	5	2
UGT2B7	7364	broad.mit.edu	37	4	69962880	69962880	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69962880G>T	uc003heg.3	+	c.642G>T	c.(640-642)ATG>ATT	p.M214I	UGT2B7_uc010ihq.2_Missense_Mutation_p.M214I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	214					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.067164	-9.920638	16.099151	9	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69962880	69962880	17520	4	G	T	T	T	585	45	UGT2B7	2	2
UGT2B28	54490	broad.mit.edu	37	4	70152596	70152596	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70152596C>A	uc003hej.2	+	c.997C>A	c.(997-999)CAA>AAA	p.Q333K	UGT2B28_uc010ihr.2_Missense_Mutation_p.Q333K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	333					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0					Flunitrazepam(DB01544)									0.252927	288.696096	312.364136	108	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70152596	70152596	17518	4	C	A	A	A	221	17	UGT2B28	2	2
ABCG2	9429	broad.mit.edu	37	4	89034566	89034566	+	Silent	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89034566G>T	uc003hrg.2	-	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	ABCG2_uc003hrh.2_Silent_p.I361I|ABCG2_uc003hrf.2_Silent_p.I229I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	361	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)									0.095376	17.722697	74.579647	33	313	KEEP	---	---	---	---	capture		Silent	SNP	89034566	89034566	70	4	G	T	T	T	577	45	ABCG2	2	2
TSSK1B	83942	broad.mit.edu	37	5	112769609	112769609	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112769609T>A	uc003kqm.2	-	c.928A>T	c.(928-930)ACC>TCC	p.T310S	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	310					cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(1)	3		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)						32				0.204082	22.621853	26.605164	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112769609	112769609	17221	5	T	A	A	A	767	59	TSSK1B	3	3
HSD17B4	3295	broad.mit.edu	37	5	118813117	118813117	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118813117A>T	uc003ksj.2	+	c.355A>T	c.(355-357)ATC>TTC	p.I119F	HSD17B4_uc011cwg.1_Missense_Mutation_p.I95F|HSD17B4_uc011cwh.1_Missense_Mutation_p.I101F|HSD17B4_uc011cwi.1_Missense_Mutation_p.I144F|HSD17B4_uc003ksk.3_5'UTR|HSD17B4_uc011cwj.1_5'UTR|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	119	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	Colon(35;490 801 34689 41394 43344)								0.121429	19.570753	39.243262	17	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118813117	118813117	7681	5	A	T	T	T	52	4	HSD17B4	3	3
KDM3B	51780	broad.mit.edu	37	5	137759816	137759816	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137759816C>A	uc003lcy.1	+	c.4025C>A	c.(4024-4026)TCA>TAA	p.S1342*	KDM3B_uc010jew.1_Nonsense_Mutation_p.S998*|KDM3B_uc011cys.1_Nonsense_Mutation_p.S374*	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1342					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.040462	-27.437085	11.952416	7	166	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	137759816	137759816	8433	5	C	A	A	A	377	29	KDM3B	5	2
MATR3	9782	broad.mit.edu	37	5	138643661	138643661	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138643661G>A	uc003ldw.2	+	c.557G>A	c.(556-558)AGA>AAA	p.R186K	MATR3_uc003lds.2_Missense_Mutation_p.R186K|MATR3_uc010jfb.2_Missense_Mutation_p.R186K|MATR3_uc003ldt.2_Intron|MATR3_uc003ldu.2_Missense_Mutation_p.R186K|MATR3_uc003ldx.2_Missense_Mutation_p.R186K|MATR3_uc010jfc.2_Missense_Mutation_p.R186K|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.R186K|MATR3_uc003lea.2_Missense_Mutation_p.R186K	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	186						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.141844	32.898118	50.348525	20	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138643661	138643661	9721	5	G	A	A	A	429	33	MATR3	2	2
DNAH5	1767	broad.mit.edu	37	5	13868090	13868090	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13868090G>A	uc003jfd.2	-	c.3846C>T	c.(3844-3846)GCC>GCT	p.A1282A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1282	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.28125	54.723455	57.475127	18	46	KEEP	---	---	---	---	capture		Silent	SNP	13868090	13868090	4787	5	G	A	A	A	548	43	DNAH5	2	2
PCDHGA2	56113	broad.mit.edu	37	5	140720282	140720282	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140720282G>A	uc003ljk.1	+	c.1744G>A	c.(1744-1746)GCA>ACA	p.A582T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A582T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	582	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.252101	136.147686	149.412173	60	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140720282	140720282	11974	5	G	A	A	A	494	38	PCDHGA2	1	1
ARAP3	64411	broad.mit.edu	37	5	141039358	141039358	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141039358G>A	uc003llm.2	-	c.3255C>T	c.(3253-3255)ATC>ATT	p.I1085I	ARAP3_uc003lll.2_Silent_p.I36I|ARAP3_uc011dbe.1_Silent_p.I747I|ARAP3_uc003lln.2_Silent_p.I916I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1085	Rho-GAP.		I -> M (in a breast cancer sample; somatic mutation).		cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.I1085M(2)		breast(5)|ovary(1)|large_intestine(1)	7														0.211268	36.183654	41.658806	15	56	KEEP	---	---	---	---	capture		Silent	SNP	141039358	141039358	851	5	G	A	A	A	421	33	ARAP3	2	2
ODZ2	57451	broad.mit.edu	37	5	167642095	167642095	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167642095C>T	uc010jjd.2	+	c.3869C>T	c.(3868-3870)TCG>TTG	p.S1290L	ODZ2_uc003lzr.3_Missense_Mutation_p.S1060L|ODZ2_uc003lzt.3_Missense_Mutation_p.S663L|ODZ2_uc010jje.2_Missense_Mutation_p.S554L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.151515	25.866364	37.376275	15	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167642095	167642095	11240	5	C	T	T	T	403	31	ODZ2	1	1
SLIT3	6586	broad.mit.edu	37	5	168233477	168233477	+	Silent	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168233477G>T	uc010jjg.2	-	c.909C>A	c.(907-909)GCC>GCA	p.A303A	SLIT3_uc003mab.2_Silent_p.A303A|SLIT3_uc010jji.2_Silent_p.A303A|SLIT3_uc003mac.1_Silent_p.A100A	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	303	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.129964	50.880887	87.918637	36	241	KEEP	---	---	---	---	capture		Silent	SNP	168233477	168233477	15239	5	G	T	T	T	600	47	SLIT3	2	2
MYO10	4651	broad.mit.edu	37	5	16877805	16877805	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16877805G>A	uc003jft.3	-	c.33C>T	c.(31-33)GTC>GTT	p.V11V	MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Silent_p.V11V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	11	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.085714	2.693204	14.872905	6	64	KEEP	---	---	---	---	capture		Silent	SNP	16877805	16877805	10457	5	G	A	A	A	418	33	MYO10	2	2
SLC34A1	6569	broad.mit.edu	37	5	176815190	176815190	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176815190G>T	uc003mgk.3	+	c.840G>T	c.(838-840)CAG>CAT	p.Q280H		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	280	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.142857	6.971609	12.247591	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176815190	176815190	15064	5	G	T	T	T	451	35	SLC34A1	2	2
OR2V2	285659	broad.mit.edu	37	5	180582009	180582009	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582009A>G	uc011dhj.1	+	c.67A>G	c.(67-69)ACT>GCT	p.T23A		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.108586	61.259026	121.363214	43	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180582009	180582009	11437	5	A	G	G	G	182	14	OR2V2	4	4
PRDM9	56979	broad.mit.edu	37	5	23526760	23526760	+	Silent	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23526760T>A	uc003jgo.2	+	c.1563T>A	c.(1561-1563)ATT>ATA	p.I521I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	521					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.264264	237.665323	254.384828	88	245	KEEP	---	---	---	---	capture		Silent	SNP	23526760	23526760	12906	5	T	A	A	A	809	63	PRDM9	3	3
CDH9	1007	broad.mit.edu	37	5	26881306	26881306	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26881306C>A	uc003jgs.1	-	c.2309G>T	c.(2308-2310)TGG>TTG	p.W770L	CDH9_uc011cnv.1_Missense_Mutation_p.W363L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	770	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.220472	261.952029	298.488091	112	396	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26881306	26881306	3246	5	C	A	A	A	273	21	CDH9	2	2
TRIM23	373	broad.mit.edu	37	5	64920031	64920031	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64920031G>C	uc003jty.2	-	c.71C>G	c.(70-72)GCT>GGT	p.A24G	TRIM23_uc003jtw.2_Missense_Mutation_p.A24G|TRIM23_uc003jtx.2_Missense_Mutation_p.A24G|C5orf44_uc010iwu.1_5'Flank|C5orf44_uc003jtz.3_5'Flank|C5orf44_uc003jua.3_5'Flank|C5orf44_uc003juc.3_5'Flank|C5orf44_uc010iwv.2_5'Flank	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	24					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)										0.111111	5.471943	10.85557	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64920031	64920031	17041	5	G	C	C	C	442	34	TRIM23	3	3
CD180	4064	broad.mit.edu	37	5	66492427	66492427	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66492427A>G	uc003juy.2	-	c.43T>C	c.(43-45)TCT>CCT	p.S15P		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	15					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)										0.126437	47.388148	82.974583	33	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66492427	66492427	3099	5	A	G	G	G	117	9	CD180	4	4
PHACTR1	221692	broad.mit.edu	37	6	13228216	13228216	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:13228216C>T	uc010jpc.2	+	c.1155C>T	c.(1153-1155)TAC>TAT	p.Y385Y	PHACTR1_uc011dir.1_Silent_p.Y454Y|PHACTR1_uc003nag.1_Silent_p.Y385Y|PHACTR1_uc003nah.1_Silent_p.Y385Y	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	385						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)											0.041199	-38.137877	22.256414	11	256	KEEP	---	---	---	---	capture		Silent	SNP	13228216	13228216	12232	6	C	T	T	T	246	19	PHACTR1	1	1
FOXF2	2295	broad.mit.edu	37	6	1390695	1390695	+	Silent	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:1390695C>T	uc003mtm.2	+	c.513C>T	c.(511-513)GGC>GGT	p.G171G	FOXF2_uc003mtn.2_Silent_p.G171G	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	171	Fork-head.				epithelial to mesenchymal transition|genitalia development|negative regulation of gene-specific transcription from RNA polymerase II promoter|palate development|pattern specification process|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)										0.175926	34.394668	44.99042	19	89	KEEP	---	---	---	---	capture		Silent	SNP	1390695	1390695	6251	6	C	T	T	T	327	26	FOXF2	2	2
TULP4	56995	broad.mit.edu	37	6	158870115	158870115	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158870115G>T	uc003qrf.2	+	c.631G>T	c.(631-633)GGT>TGT	p.G211C	TULP4_uc011efo.1_Missense_Mutation_p.G211C|TULP4_uc003qrg.2_Missense_Mutation_p.G211C	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	211					intracellular signal transduction|regulation of transcription, DNA-dependent|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)										0.431818	113.055162	113.405613	38	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158870115	158870115	17331	6	G	T	T	T	507	39	TULP4	1	1
NKAPL	222698	broad.mit.edu	37	6	28227729	28227729	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28227729T>A	uc003nkt.2	+	c.580T>A	c.(580-582)TCT>ACT	p.S194T	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	194	Lys-rich.									ovary(1)	1														0.175258	30.812568	40.466796	17	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28227729	28227729	10841	6	T	A	A	A	754	58	NKAPL	3	3
RREB1	6239	broad.mit.edu	37	6	7229614	7229614	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7229614C>G	uc003mxb.2	+	c.1282C>G	c.(1282-1284)CCC>GCC	p.P428A	RREB1_uc003mxc.2_Missense_Mutation_p.P428A|RREB1_uc010jnx.2_Missense_Mutation_p.P428A	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	428					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.140187	22.044279	35.439879	15	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7229614	7229614	14159	6	C	G	G	G	286	22	RREB1	3	3
TBX18	9096	broad.mit.edu	37	6	85466432	85466432	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:85466432A>G	uc003pkl.1	-	c.755T>C	c.(754-756)CTG>CCG	p.L252P	TBX18_uc010kbq.1_Missense_Mutation_p.L94P	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	252	T-box.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)						300				0.32	46.780367	48.220995	16	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85466432	85466432	16179	6	A	G	G	G	91	7	TBX18	4	4
KIAA0776	23376	broad.mit.edu	37	6	97000501	97000501	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97000501C>T	uc003por.2	+	c.2129C>T	c.(2128-2130)CCA>CTA	p.P710L	KIAA0776_uc010kck.2_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	710					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)										0.238095	85.673266	94.86975	35	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97000501	97000501	8500	6	C	T	T	T	273	21	KIAA0776	2	2
AGAP3	116988	broad.mit.edu	37	7	150839715	150839715	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150839715C>T	uc003wjg.1	+	c.2267C>T	c.(2266-2268)GCC>GTC	p.A756V	AGAP3_uc003wje.1_Missense_Mutation_p.A425V|AGAP3_uc003wjj.1_Missense_Mutation_p.A255V|AGAP3_uc003wjk.1_Missense_Mutation_p.A174V	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	720	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														0.425532	55.450165	55.684998	20	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150839715	150839715	371	7	C	T	T	T	338	26	AGAP3	2	2
CREB5	9586	broad.mit.edu	37	7	28843965	28843965	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:28843965G>A	uc003szq.2	+	c.852G>A	c.(850-852)CTG>CTA	p.L284L	CREB5_uc003szo.2_Silent_p.L251L|CREB5_uc003szr.2_Silent_p.L277L|CREB5_uc003szs.2_Silent_p.L145L	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	284					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.244898	28.174175	31.080685	12	37	KEEP	---	---	---	---	capture		Silent	SNP	28843965	28843965	3999	7	G	A	A	A	587	46	CREB5	2	2
CPVL	54504	broad.mit.edu	37	7	29112024	29112024	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29112024A>G	uc003szv.2	-	c.625T>C	c.(625-627)TAT>CAT	p.Y209H	CPVL_uc003szw.2_Missense_Mutation_p.Y209H|CPVL_uc003szx.2_Missense_Mutation_p.Y209H	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	209					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2														0.315789	311.689421	321.359797	102	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29112024	29112024	3974	7	A	G	G	G	208	16	CPVL	4	4
FOXK1	221937	broad.mit.edu	37	7	4780505	4780505	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4780505C>G	uc003snc.1	+	c.597C>G	c.(595-597)ATC>ATG	p.I199M	FOXK1_uc003sna.1_Missense_Mutation_p.I36M|FOXK1_uc003snb.1_Missense_Mutation_p.I199M	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	199					cell differentiation|embryo development|muscle organ development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)										0.031818	-72.187719	33.247678	14	426	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4780505	4780505	6260	7	C	G	G	G	382	30	FOXK1	3	3
ABCA13	154664	broad.mit.edu	37	7	48318356	48318356	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48318356T>C	uc003toq.2	+	c.7565T>C	c.(7564-7566)ATT>ACT	p.I2522T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2522					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.11509	76.158802	133.166262	45	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48318356	48318356	32	7	T	C	C	C	676	52	ABCA13	4	4
EIF2AK1	27102	broad.mit.edu	37	7	6078246	6078246	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6078246C>A	uc003spp.2	-	c.1176G>T	c.(1174-1176)TGG>TGT	p.W392C	EIF2AK1_uc003spq.2_Missense_Mutation_p.W391C|EIF2AK1_uc011jwm.1_Missense_Mutation_p.W268C	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	392	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)						253				0.168421	30.672634	40.539906	16	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6078246	6078246	5185	7	C	A	A	A	286	22	EIF2AK1	2	2
MAGI2	9863	broad.mit.edu	37	7	77764363	77764363	+	Silent	SNP	G	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77764363G>A	uc003ugx.2	-	c.3006C>T	c.(3004-3006)GTC>GTT	p.V1002V	MAGI2_uc003ugy.2_Silent_p.V988V|MAGI2_uc010ldx.1_Silent_p.V595V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1002	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.252475	126.573833	137.784574	51	151	KEEP	---	---	---	---	capture		Silent	SNP	77764363	77764363	9574	7	G	A	A	A	574	45	MAGI2	2	2
HGF	3082	broad.mit.edu	37	7	81334845	81334845	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81334845T>G	uc003uhl.2	-	c.1871A>C	c.(1870-1872)AAC>ACC	p.N624T	HGF_uc003uhm.2_Missense_Mutation_p.N619T	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	624	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.046729	-11.400016	12.018094	5	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81334845	81334845	7369	7	T	G	G	G	780	60	HGF	4	4
PKHD1L1	93035	broad.mit.edu	37	8	110455274	110455274	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110455274T>G	uc003yne.2	+	c.4493T>G	c.(4492-4494)GTT>GGT	p.V1498G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1498	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.032496	-121.604397	40.962546	22	655	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110455274	110455274	12397	8	T	G	G	G	780	60	PKHD1L1	4	4
TRPS1	7227	broad.mit.edu	37	8	116616126	116616126	+	Silent	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116616126C>G	uc003yny.2	-	c.2070G>C	c.(2068-2070)GTG>GTC	p.V690V	TRPS1_uc011lhy.1_Silent_p.V681V|TRPS1_uc010mcy.2_Silent_p.V677V|TRPS1_uc003ynz.2_Silent_p.V677V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	677	Mediates interaction with GLI3.|C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.172131	35.618176	48.172923	21	101	KEEP	---	---	---	---	capture		Silent	SNP	116616126	116616126	17144	8	C	G	G	G	262	21	TRPS1	3	3
ENPP2	5168	broad.mit.edu	37	8	120606014	120606014	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120606014G>T	uc003yos.1	-	c.1215C>A	c.(1213-1215)AAC>AAA	p.N405K	ENPP2_uc003yor.1_5'Flank|ENPP2_uc003yot.1_Missense_Mutation_p.N353K|ENPP2_uc010mdd.1_Missense_Mutation_p.N353K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	353					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			Melanoma(20;305 879 2501 4818 31020)								0.096189	48.471847	138.465583	53	498	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120606014	120606014	5323	8	G	T	T	T	516	40	ENPP2	1	1
PURG	29942	broad.mit.edu	37	8	30889679	30889679	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30889679C>A	uc003xin.2	-	c.620G>T	c.(619-621)GGC>GTC	p.G207V	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.G207V	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	207	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)										0.317881	128.938557	133.395015	48	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30889679	30889679	13287	8	C	A	A	A	338	26	PURG	2	2
CALB1	793	broad.mit.edu	37	8	91081231	91081231	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:91081231G>T	uc003yel.1	-	c.367C>A	c.(367-369)CTT>ATT	p.L123I	CALB1_uc011lge.1_Missense_Mutation_p.L66I	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	123	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			Melanoma(46;573 1182 27367 39727 48386)								0.258621	74.462973	80.551926	30	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91081231	91081231	2689	8	G	T	T	T	442	34	CALB1	2	2
SLC26A7	115111	broad.mit.edu	37	8	92307874	92307874	+	Silent	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92307874T>C	uc003yez.2	+	c.420T>C	c.(418-420)TTT>TTC	p.F140F	SLC26A7_uc003yex.2_Silent_p.F140F|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Silent_p.F140F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	140	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.112903	31.323371	68.007676	28	220	KEEP	---	---	---	---	capture		Silent	SNP	92307874	92307874	15019	8	T	C	C	C	816	63	SLC26A7	4	4
KIAA1529	57653	broad.mit.edu	37	9	100136920	100136920	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100136920C>T	uc011lut.1	+	c.5245C>T	c.(5245-5247)CGT>TGT	p.R1749C	KIAA1529_uc004axe.1_Missense_Mutation_p.R1555C|KIAA1529_uc004axg.1_Missense_Mutation_p.R1610C|KIAA1529_uc004axh.1_Non-coding_Transcript|KIAA1529_uc011luw.1_Missense_Mutation_p.R703C	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)	6		Acute lymphoblastic leukemia(62;0.154)												0.140625	15.233594	23.209663	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100136920	100136920	8549	9	C	T	T	T	247	19	KIAA1529	1	1
SVEP1	79987	broad.mit.edu	37	9	113163144	113163144	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113163144T>C	uc010mtz.2	-	c.9812A>G	c.(9811-9813)TAT>TGT	p.Y3271C	SVEP1_uc010mty.2_Missense_Mutation_p.Y1197C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3271	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.319149	48.409242	49.774868	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113163144	113163144	15940	9	T	C	C	C	637	49	SVEP1	4	4
ASTN2	23245	broad.mit.edu	37	9	119737557	119737557	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737557C>A	uc004bjs.1	-	c.1819G>T	c.(1819-1821)GAG>TAG	p.E607*	ASTN2_uc004bjr.1_Nonsense_Mutation_p.E603*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.E556*	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	607	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.129771	40.320013	75.254374	34	228	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119737557	119737557	1084	9	C	A	A	A	390	30	ASTN2	5	2
ZNF449	203523	broad.mit.edu	37	X	134494331	134494331	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134494331G>C	uc004eys.2	+	c.887G>C	c.(886-888)GGA>GCA	p.G296A	ZNF449_uc004eyt.2_Missense_Mutation_p.G176A|ZNF449_uc004eyu.2_Missense_Mutation_p.G102A	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	296					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.274725	83.237284	87.394967	25	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134494331	134494331	18513	23	G	C	C	C	533	41	ZNF449	3	3
USP51	158880	broad.mit.edu	37	X	55513782	55513782	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55513782C>G	uc004dun.1	-	c.1591G>C	c.(1591-1593)GAG>CAG	p.E531Q	USP51_uc011moo.1_Missense_Mutation_p.E235Q	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	531					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1														0.377778	56.462912	57.053159	17	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55513782	55513782	17647	23	C	G	G	G	416	32	USP51	3	3
MYOD1	4654	broad.mit.edu	37	11	17741563	17741564	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17741563_17741564insG	uc001mni.2	+	c.234_235insG	c.(232-237)GACGAGfs	p.D78fs		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	78_79					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	17741563	17741564	10483	11	-	G	G	G	246	19	MYOD1	5	5
HOOK2	29911	broad.mit.edu	37	19	12880875	12880875	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z050-01	TCGA-17-Z050-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12880875_12880875delC	uc002muy.2	-	c.924_924delG	c.(922-924)GGGfs	p.G308fs	HOOK2_uc002muz.2_Frame_Shift_Del_p.G308fs	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	308	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	12880875	12880875	7575	19	C	-	-	-	327	26	HOOK2	5	5
