Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PIK3AP1	118788	broad.mit.edu	36	10	98401281	98401281	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98401281G>A	uc001kmq.1	-	c.830C>T	c.(829-831)GCG>GTG	p.A277V	PIK3AP1_uc001kmp.1_Missense_Mutation_p.A99V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	277	DBB.					cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)												0.10625	13.484834	38.098177	17	143	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	Missense_Mutation	SNP	98401281	98401281	12332	10	G	A	A	38	38	PIK3AP1	A	1	1
DDI1	414301	broad.mit.edu	36	11	103413352	103413352	+	Missense_Mutation	SNP	C	G	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:103413352C>G	uc001phr.2	+	c.592C>G	c.(592-594)CTT>GTT	p.L198V	PDGFD_uc001php.1_Intron|PDGFD_uc001phq.1_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	198					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)												0.208333	46.893528	54.529116	20	76	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	Missense_Mutation	SNP	103413352	103413352	4499	11	C	G	G	28	28	DDI1	G	3	3
MUC2	4583	broad.mit.edu	36	11	1074268	1074268	+	Missense_Mutation	SNP	T	G	G			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1074268T>G	uc001lsx.1	+	c.2400T>G	c.(2398-2400)TGT>TGG	p.C800W		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	800						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)			Pranlukast(DB01411)									0.545455	6.981573	6.986434	6	5	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1074268	1074268	10369	11	T	G	G	59	59	MUC2	G	4	4
OR8A1	390275	broad.mit.edu	36	11	123945473	123945473	+	Missense_Mutation	SNP	T	A	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123945473T>A	uc001qag.1	+	c.299T>A	c.(298-300)GTG>GAG	p.V100E		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	100	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)												0.139442	61.461964	92.978314	35	216	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	Missense_Mutation	SNP	123945473	123945473	11636	11	T	A	A	59	59	OR8A1	A	4	4
CNGA4	1262	broad.mit.edu	36	11	6218040	6218040	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6218040C>T	uc001mco.2	+	c.440C>T	c.(439-441)GCG>GTG	p.A147V	CNGA4_uc001mcn.2_Missense_Mutation_p.A107V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)												0.147826	44.737668	72.130023	34	196	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6218040	6218040	3737	11	C	T	T	27	27	CNGA4	T	1	1
OASL	8638	broad.mit.edu	36	12	119949840	119949840	+	Missense_Mutation	SNP	C	G	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119949840C>G	uc001tzj.1	-	c.821G>C	c.(820-822)TGT>TCT	p.C274S	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	274					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					Colon(192;517 2041 31392 31913 39966)								0.139303	56.456981	81.725221	28	173	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119949840	119949840	11207	12	C	G	G	17	17	OASL	G	3	3
EP400	57634	broad.mit.edu	36	12	131078769	131078769	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131078769G>A	uc001ujn.1	+	c.5364G>A	c.(5362-5364)CTG>CTA	p.L1788L	EP400_uc001ujl.1_Silent_p.L1787L|EP400_uc001ujm.1_Silent_p.L1707L|SNORA49_uc001ujo.1_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1824					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.146479	78.941125	121.608549	52	303	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Silent	SNP	131078769	131078769	5342	12	G	A	A	46	46	EP400	A	2	2
OR6C3	254786	broad.mit.edu	36	12	54012637	54012637	+	Missense_Mutation	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54012637C>A	uc001sgv.1	+	c.886C>A	c.(886-888)CAA>AAA	p.Q296K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.132075	22.271657	36.215048	14	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54012637	54012637	11602	12	C	A	A	17	17	OR6C3	A	3	3
LRP1	4035	broad.mit.edu	36	12	55876248	55876248	+	Missense_Mutation	SNP	G	C	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55876248G>C	uc001snd.1	+	c.8813G>C	c.(8812-8814)GGC>GCC	p.G2938A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2938	LDL-receptor class A 20.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.4375	13.101956	13.175048	7	9	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55876248	55876248	9324	12	G	C	C	42	42	LRP1	C	3	3
PTPRB	5787	broad.mit.edu	36	12	69220022	69220022	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69220022C>T	uc001swc.2	-	c.5642G>A	c.(5641-5643)CGA>CAA	p.R1881Q	PTPRB_uc001swb.2_Missense_Mutation_p.R1663Q|PTPRB_uc001swa.2_Missense_Mutation_p.R1793Q	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1663	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)													0.111111	9.519767	21.628447	9	72	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		Missense_Mutation	SNP	69220022	69220022	13253	12	C	T	T	31	31	PTPRB	T	1	1
PTPRR	5801	broad.mit.edu	36	12	69572854	69572854	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69572854G>A	uc001swi.1	-	c.229C>T	c.(229-231)CGC>TGC	p.R77C		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2														0.110429	33.021201	81.924273	36	290	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	Missense_Mutation	SNP	69572854	69572854	13268	12	G	A	A	40	40	PTPRR	A	1	1
KCNK10	54207	broad.mit.edu	36	14	87721979	87721979	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87721979G>A	uc001xwm.1	-	c.1285C>T	c.(1285-1287)CGC>TGC	p.R429C	KCNK10_uc001xwn.1_Missense_Mutation_p.R429C|KCNK10_uc001xwo.1_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.133333	21.695477	39.289794	18	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87721979	87721979	8364	14	G	A	A	38	38	KCNK10	A	1	1
ATF7IP2	80063	broad.mit.edu	36	16	10441747	10441747	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10441747G>A	uc002czu.1	+	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H	ATF7IP2_uc002czv.1_Missense_Mutation_p.R374H|ATF7IP2_uc002czw.1_Missense_Mutation_p.R374H|ATF7IP2_uc010bul.1_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	374	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0														0.176471	23.455923	30.168522	12	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10441747	10441747	1107	16	G	A	A	40	40	ATF7IP2	A	1	1
ACSM5	54988	broad.mit.edu	36	16	20350118	20350118	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20350118C>T	uc002dhe.1	+	c.1282C>T	c.(1282-1284)CCC>TCC	p.P428S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member	428					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.09375	6.461486	38.27093	18	174	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20350118	20350118	188	16	C	T	T	26	26	ACSM5	T	2	2
ITGAM	3684	broad.mit.edu	36	16	31216374	31216374	+	Silent	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31216374C>T	uc002ebr.1	+	c.1395C>T	c.(1393-1395)GAC>GAT	p.D465D	ITGAM_uc002ebq.1_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.1_De_novo_Start_OutOfFrame	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M precursor	465	FG-GAP 5.|Extracellular (Potential).|Potential.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.152263	63.836435	91.947256	37	206	CC		KEEP	---	---	---	---	capture			Silent	SNP	31216374	31216374	8191	16	C	T	T	19	19	ITGAM	T	1	1
ZFHX3	463	broad.mit.edu	36	16	71379355	71379355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71379355C>A	uc002fck.1	-	c.10321G>T	c.(10321-10323)GAG>TAG	p.E3441*	ZFHX3_uc002fcl.1_Nonsense_Mutation_p.E2527*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	3441					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.132653	50.406378	88.954837	39	255	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	71379355	71379355	18222	16	C	A	A	32	32	ZFHX3	A	5	3
MYH2	4620	broad.mit.edu	36	17	10368681	10368681	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10368681G>A	uc010coi.1	-	c.5002C>T	c.(5002-5004)CGG>TGG	p.R1668W	MYH2_uc002gmp.2_Missense_Mutation_p.R1668W|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1668	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.130081	21.823592	38.197428	16	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10368681	10368681	10430	17	G	A	A	39	39	MYH2	A	1	1
ACACA	31	broad.mit.edu	36	17	32689375	32689375	+	Missense_Mutation	SNP	C	G	G			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32689375C>G	uc002hno.1	-	c.1534G>C	c.(1534-1536)GAT>CAT	p.D512H	ACACA_uc002hnk.1_Missense_Mutation_p.D397H|ACACA_uc002hnl.1_Missense_Mutation_p.D417H|ACACA_uc002hnm.1_Missense_Mutation_p.D475H|ACACA_uc002hnn.1_Missense_Mutation_p.D475H|ACACA_uc010cuz.1_Missense_Mutation_p.D475H	NM_198834	NP_942135	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	475	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.178295	59.195714	71.723466	23	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32689375	32689375	107	17	C	G	G	30	30	ACACA	G	3	3
MKS1	54903	broad.mit.edu	36	17	53649073	53649073	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53649073C>T	uc002ivr.1	-	c.214G>A	c.(214-216)GAA>AAA	p.E72K	MKS1_uc002ivs.1_Missense_Mutation_p.E72K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	72					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1														0.121739	17.473275	33.589453	14	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53649073	53649073	9999	17	C	T	T	31	31	MKS1	T	1	1
CDR2L	30850	broad.mit.edu	36	17	70511648	70511648	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70511648C>T	uc002jml.2	+	c.1282C>T	c.(1282-1284)CGG>TGG	p.R428W		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	428											0	all_lung(278;0.226)													0.25	11.775775	12.905278	5	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70511648	70511648	3302	17	C	T	T	27	27	CDR2L	T	1	1
ITGB4	3691	broad.mit.edu	36	17	71237024	71237024	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71237024G>A	uc002jpg.1	+	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	ITGB4_uc002jph.1_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.2_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.1_Missense_Mutation_p.R217Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	217	VWFA.|Extracellular (Potential).				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)									754				0.268817	68.178311	72.636713	25	68	GG		KEEP	---	---	---	---	capture	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71237024	71237024	8201	17	G	A	A	39	39	ITGB4	A	1	1
ROCK1	6093	broad.mit.edu	36	18	16801743	16801743	+	Nonsense_Mutation	SNP	T	A	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:16801743T>A	uc002kte.1	-	c.3160A>T	c.(3160-3162)AAA>TAA	p.K1054*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1054	Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.101176	26.923558	94.373888	43	382	TT		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	16801743	16801743	13996	18	T	A	A	62	62	ROCK1	A	5	4
CTAGE1	64693	broad.mit.edu	36	18	18250796	18250796	+	Missense_Mutation	SNP	T	A	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18250796T>A	uc002ktv.1	-	c.977A>T	c.(976-978)AAT>ATT	p.N326I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	326	Potential.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)													0.113475	18.495029	39.280574	16	125	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18250796	18250796	4151	18	T	A	A	52	52	CTAGE1	A	4	4
DSC2	1824	broad.mit.edu	36	18	26927539	26927539	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26927539G>A	uc002kwl.2	-	c.135C>T	c.(133-135)GCC>GCT	p.A45A	DSC2_uc002kwk.2_Silent_p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	45					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(1)	1														0.111111	29.519295	63.158183	25	200	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		Silent	SNP	26927539	26927539	4950	18	G	A	A	39	39	DSC2	A	1	1
SERPINB4	6318	broad.mit.edu	36	18	59456064	59456064	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59456064C>T	uc002ljf.1	-	c.1042G>A	c.(1042-1044)GCT>ACT	p.A348T	SERPINB4_uc002lje.1_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.1_Missense_Mutation_p.A348T|SERPINB4_uc002ljh.1_Missense_Mutation_p.A348T	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	348					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.137097	24.411749	40.200268	17	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59456064	59456064	14591	18	C	T	T	27	27	SERPINB4	T	1	1
RTBDN	83546	broad.mit.edu	36	19	12800705	12800705	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12800705G>A	uc002mvj.1	-	c.328C>T	c.(328-330)CGC>TGC	p.R110C	RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvi.1_Missense_Mutation_p.R78C	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 2	78						extracellular region					0														0.116667	30.027725	64.729001	28	212	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12800705	12800705	14197	19	G	A	A	40	40	RTBDN	A	1	1
GTPBP3	84705	broad.mit.edu	36	19	17311006	17311006	+	Missense_Mutation	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17311006C>A	uc002ngg.2	+	c.835C>A	c.(835-837)CGC>AGC	p.R279S	GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.2_Missense_Mutation_p.R247S|GTPBP3_uc010eas.1_Missense_Mutation_p.R247S|GTPBP3_uc002ngi.2_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	247					tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.118644	9.099119	17.512475	7	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17311006	17311006	7161	19	C	A	A	23	23	GTPBP3	A	3	3
ZFP28	140612	broad.mit.edu	36	19	61752192	61752192	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61752192G>A	uc002qnj.1	+	c.577G>A	c.(577-579)GAA>AAA	p.E193K	ZFP28_uc002qni.2_Missense_Mutation_p.E193K	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)				Ovarian(124;554 1662 19430 21141 52494)								0.135802	18.1714	28.576696	11	70	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0302)	Missense_Mutation	SNP	61752192	61752192	18230	19	G	A	A	37	37	ZFP28	A	1	1
MUC16	94025	broad.mit.edu	36	19	8929764	8929764	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8929764G>T	uc002mkp.1	-	c.18682C>A	c.(18682-18684)CTT>ATT	p.L6228I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6230	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														0.097938	12.690381	44.072609	19	175	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8929764	8929764	10367	19	G	T	T	35	35	MUC16	T	3	3
FLG	2312	broad.mit.edu	36	1	150542280	150542280	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150542280G>A	uc001ezu.1	-	c.11706C>T	c.(11704-11706)CCC>CCT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.154412	34.298051	49.823578	21	115	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150542280	150542280	6160	1	G	A	A	39	39	FLG	A	1	1
FLG2	388698	broad.mit.edu	36	1	150596060	150596060	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150596060G>A	uc001ezw.2	-	c.826C>T	c.(826-828)CGA>TGA	p.R276*		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	276	Ser-rich.|Filaggrin 1.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.123919	32.88702	80.745145	43	304	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Nonsense_Mutation	SNP	150596060	150596060	6161	1	G	A	A	38	38	FLG2	A	5	1
HMCN1	83872	broad.mit.edu	36	1	184381580	184381580	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184381580G>A	uc001grq.1	+	c.14510G>A	c.(14509-14511)CGG>CAG	p.R4837Q	HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	4837	TSP type-1 6.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.106061	13.354357	33.699078	14	118	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184381580	184381580	7511	1	G	A	A	39	39	HMCN1	A	1	1
CACNA1S	779	broad.mit.edu	36	1	199313784	199313784	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199313784G>A	uc001gvv.1	-	c.1465C>T	c.(1465-1467)CGC>TGC	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	489	II.|Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.109244	10.387184	28.394874	13	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199313784	199313784	2663	1	G	A	A	38	38	CACNA1S	A	1	1
ZFYVE9	9372	broad.mit.edu	36	1	52476683	52476683	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52476683G>T	uc001cto.1	+	c.1006G>T	c.(1006-1008)GGT>TGT	p.G336C	ZFYVE9_uc001ctn.1_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.1_Missense_Mutation_p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	336					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.113095	19.293615	44.124408	19	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52476683	52476683	18261	1	G	T	T	47	47	ZFYVE9	T	3	3
SNX21	90203	broad.mit.edu	36	20	43902970	43902970	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43902970C>T	uc002xpv.1	+	c.733C>T	c.(733-735)CGG>TGG	p.R245W	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc002xpx.2_Missense_Mutation_p.R235W|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	245	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.1125	7.484205	19.292436	9	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43902970	43902970	15393	20	C	T	T	27	27	SNX21	T	1	1
PREX1	57580	broad.mit.edu	36	20	46709928	46709928	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:46709928C>T	uc002xtw.1	-	c.1817G>A	c.(1816-1818)AGC>AAC	p.S606N		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	606					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6														0.111111	22.629325	50.895879	21	168	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		Missense_Mutation	SNP	46709928	46709928	12919	20	C	T	T	28	28	PREX1	T	2	2
ZNF831	128611	broad.mit.edu	36	20	57200472	57200472	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57200472C>T	uc002yan.1	+	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	335						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.170732	11.430501	15.618563	7	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57200472	57200472	18784	20	C	T	T	23	23	ZNF831	T	1	1
PSD4	23550	broad.mit.edu	36	2	113656750	113656750	+	Silent	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113656750C>T	uc002tjc.1	+	c.246C>T	c.(244-246)GAC>GAT	p.D82D	PSD4_uc002tjd.1_De_novo_Start_InFrame|PSD4_uc002tje.1_Silent_p.D81D|PSD4_uc002tjf.1_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.130435	9.370245	18.521405	9	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	113656750	113656750	13102	2	C	T	T	19	19	PSD4	T	1	1
TTN	7273	broad.mit.edu	36	2	179178138	179178138	+	Missense_Mutation	SNP	T	G	G			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179178138T>G	uc002umr.1	-	c.46307A>C	c.(46306-46308)GAA>GCA	p.E15436A	TTN_uc002ums.1_Missense_Mutation_p.E9131A|TTN_uc010frc.1_Missense_Mutation_p.E9064A|TTN_uc010frd.1_Missense_Mutation_p.E8939A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16363										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.217054	77.83436	87.353409	28	101	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179178138	179178138	17290	2	T	G	G	62	62	TTN	G	4	4
ZNF804A	91752	broad.mit.edu	36	2	185510682	185510682	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:185510682C>T	uc002uph.1	+	c.2314C>T	c.(2314-2316)CGT>TGT	p.R772C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.114754	15.762567	33.606314	14	108	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	185510682	185510682	18768	2	C	T	T	19	19	ZNF804A	T	1	1
NRXN1	9378	broad.mit.edu	36	2	50619085	50619085	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:50619085G>A	uc002rxe.2	-	c.1953C>T	c.(1951-1953)GGC>GGT	p.G651G	NRXN1_uc010fbq.1_Silent_p.G338G|NRXN1_uc002rxb.2_Silent_p.G323G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha1 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)												0.13278	81.578065	144.548757	64	418	GG		KEEP	---	---	---	---	capture	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		Silent	SNP	50619085	50619085	11070	2	G	A	A	42	42	NRXN1	A	2	2
MYLK	4638	broad.mit.edu	36	3	124815813	124815813	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124815813G>A	uc003ego.1	-	c.5574C>T	c.(5572-5574)GAC>GAT	p.D1858D	MYLK_uc003egp.1_Silent_p.D1789D|MYLK_uc003egq.1_Silent_p.D1807D|MYLK_uc003egr.1_Silent_p.D1738D|MYLK_uc003egs.1_Silent_p.D1682D|MYLK_uc003egl.1_Silent_p.D98D|MYLK_uc003egm.1_Silent_p.D97D|MYLK_uc010hrr.1_Silent_p.D293D|MYLK_uc003egn.1_Silent_p.D1048D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1858	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)								766				0.147321	51.11178	77.89787	33	191	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0736)	Silent	SNP	124815813	124815813	10451	3	G	A	A	36	36	MYLK	A	2	2
ZBBX	79740	broad.mit.edu	36	3	168518063	168518063	+	Missense_Mutation	SNP	G	C	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:168518063G>C	uc003fep.1	-	c.1000C>G	c.(1000-1002)CTT>GTT	p.L334V	ZBBX_uc003feq.1_Missense_Mutation_p.L305V|ZBBX_uc003feo.1_Missense_Mutation_p.L100V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	334						intracellular	zinc ion binding			ovary(2)	2														0.127273	39.855607	62.209726	21	144	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	168518063	168518063	18100	3	G	C	C	36	36	ZBBX	C	3	3
ABCC5	10057	broad.mit.edu	36	3	185147833	185147833	+	Silent	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185147833C>A	uc003fmg.1	-	c.3387G>T	c.(3385-3387)GCG>GCT	p.A1129A	ABCC5_uc010hxl.1_Silent_p.A1086A|ABCC5_uc003fmf.1_Silent_p.A657A	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1129	ABC transmembrane type-1 2.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)													0.190476	18.675305	22.43662	8	34	CC		KEEP	---	---	---	---	capture	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Silent	SNP	185147833	185147833	57	3	C	A	A	23	23	ABCC5	A	3	3
EIF4G1	1981	broad.mit.edu	36	3	185527035	185527035	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185527035G>A	uc010hxx.1	+	c.3270G>A	c.(3268-3270)CAG>CAA	p.Q1090Q	EIF4G1_uc003fnp.1_Silent_p.Q1083Q|EIF4G1_uc003fnt.1_Silent_p.Q794Q|EIF4G1_uc003fnq.1_Silent_p.Q996Q|EIF4G1_uc003fnr.1_Silent_p.Q919Q|EIF4G1_uc003fns.1_Silent_p.Q1043Q|EIF4G1_uc010hxy.1_Silent_p.Q1090Q|EIF4G1_uc003fnu.2_Silent_p.Q1083Q|EIF4G1_uc003fnv.2_Silent_p.Q1084Q|EIF4G1_uc003fnw.1_Silent_p.Q1090Q|EIF4G1_uc003fnx.2_Silent_p.Q888Q|EIF4G1_uc003fny.2_Silent_p.Q887Q|EIF4G1_uc003foa.1_5'Flank	NM_004953	NP_004944	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1083	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|large_intestine(1)|central_nervous_system(1)	6	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)									439				0.163522	48.340567	65.453371	26	133	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Silent	SNP	185527035	185527035	5227	3	G	A	A	34	34	EIF4G1	A	2	2
ENPEP	2028	broad.mit.edu	36	4	111650376	111650376	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111650376G>T	uc003iab.2	+	c.1158G>T	c.(1156-1158)AGG>AGT	p.R386S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	386	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)			L-Glutamic Acid(DB00142)									0.112676	15.257716	36.241414	16	126	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	Missense_Mutation	SNP	111650376	111650376	5321	4	G	T	T	43	43	ENPEP	T	3	3
ALPK1	80216	broad.mit.edu	36	4	113573016	113573016	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:113573016G>A	uc003ian.2	+	c.2864G>A	c.(2863-2865)GGG>GAG	p.G955E	ALPK1_uc003iap.2_Missense_Mutation_p.G955E|ALPK1_uc003iao.2_Intron|ALPK1_uc010imo.1_Missense_Mutation_p.G783E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)								252				0.102362	12.078119	32.093944	13	114	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	Missense_Mutation	SNP	113573016	113573016	547	4	G	A	A	43	43	ALPK1	A	2	2
FGFBP1	9982	broad.mit.edu	36	4	15547020	15547020	+	Missense_Mutation	SNP	A	G	G			TCGA-28-2513-01	TCGA-28-2513-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15547020A>G	uc003gom.1	-	c.334T>C	c.(334-336)TAT>CAT	p.Y112H	FGFBP1_uc010iea.1_Missense_Mutation_p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	112					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0														0.131579	46.343379	71.405534	25	165	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15547020	15547020	6097	4	A	G	G	15	15	FGFBP1	G	4	4
PPID	5481	broad.mit.edu	36	4	159857737	159857737	+	Missense_Mutation	SNP	A	C	C			TCGA-28-2513-01	TCGA-28-2513-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159857737A>C	uc003iqc.1	-	c.399T>G	c.(397-399)TTT>TTG	p.F133L		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)													0.17619	93.583933	114.305397	37	173	AA		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0159)	Missense_Mutation	SNP	159857737	159857737	12756	4	A	C	C	13	13	PPID	C	4	4
ARAP2	116984	broad.mit.edu	36	4	35845039	35845039	+	Missense_Mutation	SNP	G	C	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:35845039G>C	uc003gsq.1	-	c.1883C>G	c.(1882-1884)ACC>AGC	p.T628S	ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	NM_015230	NP_631921	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	628	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.181818	55.27431	66.7836	22	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35845039	35845039	850	4	G	C	C	44	44	ARAP2	C	3	3
CSN1S1	1446	broad.mit.edu	36	4	70842868	70842868	+	Missense_Mutation	SNP	A	C	C			TCGA-28-2513-01	TCGA-28-2513-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70842868A>C	uc003hep.1	+	c.386A>C	c.(385-387)AAC>ACC	p.N129T	CSN1S1_uc003heq.1_Missense_Mutation_p.N120T|CSN1S1_uc003her.1_Missense_Mutation_p.N121T	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	129						extracellular region	protein binding|transporter activity				0														0.5	6.349792	6.349792	5	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70842868	70842868	4088	4	A	C	C	2	2	CSN1S1	C	4	4
CCDC96	257236	broad.mit.edu	36	4	7094597	7094597	+	Nonsense_Mutation	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7094597C>A	uc003gjv.1	-	c.970G>T	c.(970-972)GAG>TAG	p.E324*	TADA2B_uc003gjw.2_5'Flank|TADA2B_uc010idi.1_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	324	Potential.										0														0.116041	25.711611	68.214793	34	259	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7094597	7094597	2999	4	C	A	A	30	30	CCDC96	A	5	3
TMEM150C	441027	broad.mit.edu	36	4	83636319	83636319	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:83636319G>T	uc003hmy.1	-	c.289C>A	c.(289-291)CCG>ACG	p.P97T		NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	hypothetical protein LOC441027	97						integral to membrane				ovary(1)	1														0.16	35.928801	49.682309	20	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83636319	83636319	16601	4	G	T	T	43	43	TMEM150C	T	3	3
FAT2	2196	broad.mit.edu	36	5	150902114	150902114	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150902114C>T	uc003lue.2	-	c.8767G>A	c.(8767-8769)GAA>AAA	p.E2923K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2923	Extracellular (Potential).|Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.205056	165.433619	194.120678	73	283	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150902114	150902114	5926	5	C	T	T	31	31	FAT2	T	1	1
HK3	3101	broad.mit.edu	36	5	176241119	176241119	+	Missense_Mutation	SNP	A	C	C			TCGA-28-2513-01	TCGA-28-2513-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176241119A>C	uc003mfa.1	-	c.2417T>G	c.(2416-2418)GTC>GGC	p.V806G	HK3_uc003mez.1_Missense_Mutation_p.V362G	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	806	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.307692	7.69137	8.122596	4	9	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176241119	176241119	7483	5	A	C	C	10	10	HK3	C	4	4
PIK3R1	5295	broad.mit.edu	36	5	67626841	67626841	+	Missense_Mutation	SNP	G	C	C			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:67626841G>C	uc003jva.1	+	c.1678G>C	c.(1678-1680)GAC>CAC	p.D560H	PIK3R1_uc003jvb.1_Missense_Mutation_p.D560H|PIK3R1_uc003jvc.1_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.1_Missense_Mutation_p.D290H|PIK3R1_uc003jve.1_Missense_Mutation_p.D239H	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)			Isoproterenol(DB01064)				p.D560Y(JHUEM7-Tumor)|p.557_561REIDK>Q(AN3CA-Tumor)	370	TCGA GBM(4;<1E-8)			0.105263	17.54726	38.147103	14	119	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Missense_Mutation	SNP	67626841	67626841	12342	5	G	C	C	45	45	PIK3R1	C	3	3
OPRM1	4988	broad.mit.edu	36	6	154453915	154453915	+	Missense_Mutation	SNP	G	A	A	rs1799974	unknown	TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:154453915G>A	uc003qpq.1	+	c.965G>A	c.(964-966)CGC>CAC	p.R322H	OPRM1_uc003qpn.1_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.1_Non-coding_Transcript|OPRM1_uc010kjf.1_Missense_Mutation_p.R322H|OPRM1_uc003qpr.1_Missense_Mutation_p.R260H|OPRM1_uc003qps.1_Non-coding_Transcript|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc010kjg.1_Missense_Mutation_p.R160H|OPRM1_uc003qpu.1_Missense_Mutation_p.R160H	NM_001008504	NP_001008504	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1A	260	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)			Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.151376	51.551124	76.920991	33	185	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Missense_Mutation	SNP	154453915	154453915	11293	6	G	A	A	38	38	OPRM1	A	1	1
PRSS35	167681	broad.mit.edu	36	6	84290937	84290937	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84290937G>A	uc003pjz.1	+	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H	PRSS35_uc010kbm.1_Missense_Mutation_p.R353H|PRSS35_uc010kbn.1_Missense_Mutation_p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	353	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)												0.129252	24.824477	44.498641	19	128	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0768)	Missense_Mutation	SNP	84290937	84290937	13074	6	G	A	A	40	40	PRSS35	A	1	1
PPP1R3A	5506	broad.mit.edu	36	7	113306558	113306558	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:113306558C>T	uc010ljy.1	-	c.1825G>A	c.(1825-1827)GCT>ACT	p.A609T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	609					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.12462	49.066296	94.361538	41	288	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113306558	113306558	12806	7	C	T	T	27	27	PPP1R3A	T	1	1
ZNF786	136051	broad.mit.edu	36	7	148400306	148400306	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148400306C>T	uc003wfh.2	-	c.491G>A	c.(490-492)GGA>GAA	p.G164E	ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)													0.125	8.901828	16.583067	7	49	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		Missense_Mutation	SNP	148400306	148400306	18756	7	C	T	T	30	30	ZNF786	T	2	2
KRBA1	84626	broad.mit.edu	36	7	149058455	149058455	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149058455G>A	uc003wfz.1	+	c.2010G>A	c.(2008-2010)AGG>AGA	p.R670R	KRBA1_uc010lpj.1_Non-coding_Transcript|KRBA1_uc003wga.1_Non-coding_Transcript|KRBA1_uc003wgb.1_Silent_p.R277R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	670	Pro-rich.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)													0.533333	24.207178	24.222681	8	7	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Silent	SNP	149058455	149058455	8754	7	G	A	A	43	43	KRBA1	A	2	2
RABGEF1	27342	broad.mit.edu	36	7	65877689	65877689	+	Missense_Mutation	SNP	A	T	T			TCGA-28-2513-01	TCGA-28-2513-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:65877689A>T	uc003tvh.1	+	c.220A>T	c.(220-222)AGC>TGC	p.S74C	RABGEF1_uc003tvf.1_5'UTR|RABGEF1_uc003tvg.1_5'UTR|RABGEF1_uc010lag.1_Missense_Mutation_p.S74C|RABGEF1_uc003tvi.1_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	252	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1														0.118644	15.47427	32.32411	14	104	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65877689	65877689	13425	7	A	T	T	11	11	RABGEF1	T	4	4
PKHD1L1	93035	broad.mit.edu	36	8	110566460	110566460	+	Silent	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:110566460G>A	uc003yne.1	+	c.9588G>A	c.(9586-9588)GAG>GAA	p.E3196E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L	3196	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														0.222222	41.460522	46.571528	16	56	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		Silent	SNP	110566460	110566460	12397	8	G	A	A	33	33	PKHD1L1	A	2	2
TRPS1	7227	broad.mit.edu	36	8	116495961	116495961	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:116495961G>T	uc003yny.1	-	c.3351C>A	c.(3349-3351)TTC>TTA	p.F1117L	TRPS1_uc010mcy.1_Missense_Mutation_p.F1104L|TRPS1_uc003ynz.1_Missense_Mutation_p.F1104L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1104	Mediates interaction with RNF4 (By similarity).				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)									312				0.190476	37.229121	46.645278	20	85	GG		KEEP	---	---	---	---	capture	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		Missense_Mutation	SNP	116495961	116495961	17144	8	G	T	T	41	41	TRPS1	T	3	3
COL14A1	7373	broad.mit.edu	36	8	121362463	121362463	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:121362463G>A	uc003yox.1	+	c.3808G>A	c.(3808-3810)GTT>ATT	p.V1270I	COL14A1_uc003yoz.2_Missense_Mutation_p.V235I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1270	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)									1131				0.186335	61.364069	76.201299	30	131	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		Missense_Mutation	SNP	121362463	121362463	3809	8	G	A	A	44	44	COL14A1	A	2	2
NSMAF	8439	broad.mit.edu	36	8	59675135	59675135	+	Splice_Site_SNP	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:59675135C>T	uc003xtt.1	-	c.1281_splice	c.e17-1	p.S427_splice		NM_003580	NP_003571			neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)												0.136691	31.43606	49.191597	19	120	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	59675135	59675135	11079	8	C	T	T	20	20	NSMAF	T	5	2
DDX26B	203522	broad.mit.edu	36	X	134508805	134508805	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134508805G>A	uc004eyw.2	+	c.691G>A	c.(691-693)GTA>ATA	p.V231I		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	231											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.155689	129.512513	186.25109	78	423	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134508805	134508805	4524	23	G	A	A	48	48	DDX26B	A	2	2
CSAG1	158511	broad.mit.edu	36	X	151659577	151659577	+	Missense_Mutation	SNP	C	A	A			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151659577C>A	uc004fge.1	+	c.160C>A	c.(160-162)CCA>ACA	p.P54T	CSAG1_uc004fgf.1_Missense_Mutation_p.P54T|CSAG1_uc004fgd.1_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	54										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.098901	21.678061	80.2205	36	328	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151659577	151659577	4065	23	C	A	A	18	18	CSAG1	A	3	3
MAGEB2	4113	broad.mit.edu	36	X	30146688	30146688	+	Missense_Mutation	SNP	G	T	T			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30146688G>T	uc004dbz.1	+	c.70G>T	c.(70-72)GGT>TGT	p.G24C	MAGEB2_uc010ngf.1_Missense_Mutation_p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	24							protein binding			ovary(1)	1														0.145455	12.362403	19.014252	8	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30146688	30146688	9557	23	G	T	T	43	43	MAGEB2	T	3	3
MAGEB4	4115	broad.mit.edu	36	X	30170528	30170528	+	Missense_Mutation	SNP	T	A	A			TCGA-28-2513-01	TCGA-28-2513-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:30170528T>A	uc004dcb.1	+	c.355T>A	c.(355-357)TTC>ATC	p.F119I	MAGEB1_uc004dcc.1_5'Flank|MAGEB1_uc004dcd.1_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	119	MAGE.									ovary(1)	1														0.140351	11.761923	18.880181	8	49	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30170528	30170528	9559	23	T	A	A	60	60	MAGEB4	A	4	4
DMD	1756	broad.mit.edu	36	X	32314442	32314442	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:32314442C>T	uc004dda.1	-	c.4580G>A	c.(4579-4581)CGT>CAT	p.R1527H	DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1527	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.095618	13.015433	54.200858	24	227	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32314442	32314442	4760	23	C	T	T	19	19	DMD	T	1	1
OTC	5009	broad.mit.edu	36	X	38145524	38145524	+	Missense_Mutation	SNP	G	A	A			TCGA-28-2513-01	TCGA-28-2513-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:38145524G>A	uc004def.2	+	c.439G>A	c.(439-441)GAT>AAT	p.D147N		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	147					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)									0.144737	11.912603	21.297102	11	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38145524	38145524	11713	23	G	A	A	33	33	OTC	A	2	2
PCDH19	57526	broad.mit.edu	36	X	99549168	99549168	+	Missense_Mutation	SNP	C	T	T			TCGA-28-2513-01	TCGA-28-2513-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:99549168C>T	uc010nmz.1	-	c.1084G>A	c.(1084-1086)GCC>ACC	p.A362T	PCDH19_uc004efw.2_Missense_Mutation_p.A362T|PCDH19_uc004efx.2_Missense_Mutation_p.A362T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	362	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.10274	7.527602	30.488494	15	131	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99549168	99549168	11934	23	C	T	T	27	27	PCDH19	T	1	1
MRPS26	64949	broad.mit.edu	36	20	2975090	2975090	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-2513-01	TCGA-28-2513-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2975090_2975090delC	uc002whs.1	+	c.284_284delC	c.(283-285)GCCfs	p.A95fs		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	95					DNA damage response, detection of DNA damage|peptide biosynthetic process	mitochondrial small ribosomal subunit					0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	2975090	2975090	10230	20	C	-	-	26	26	MRPS26	-	5	5
