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
HKDC1	80201	broad.mit.edu	37	10	71000488	71000488	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71000488C>A	uc001jpf.3	+	c.672C>A	c.(670-672)TGC>TGA	p.C224*	HKDC1_uc010qje.1_Nonsense_Mutation_p.C87*	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	224					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.087719	2.933458	12.730007	5	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71000488	71000488	7484	10	C	A	A	A	350	27	HKDC1	5	1
PRF1	5551	broad.mit.edu	37	10	72358889	72358889	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72358889G>A	uc009xqg.2	-	c.588C>T	c.(586-588)GCC>GCT	p.A196A	PRF1_uc001jrf.3_Silent_p.A196A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	196	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.235294	10.091029	11.180697	4	13	KEEP	---	---	---	---	capture		Silent	SNP	72358889	72358889	12921	10	G	A	A	A	548	43	PRF1	2	2
SEC24C	9632	broad.mit.edu	37	10	75526299	75526300	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75526299_75526300GG>TT	uc001juw.2	+	c.1799_splice	c.e13+1	p.S600_splice	SEC24C_uc010qkn.1_Splice_Site_DNP|SEC24C_uc009xrj.1_Splice_Site_DNP_p.S458_splice|SEC24C_uc001jux.2_Splice_Site_DNP_p.S600_splice|SEC24C_uc010qko.1_Splice_Site_DNP_p.S481_splice|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913			SEC24-related protein C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			central_nervous_system(1)	1	Prostate(51;0.0112)													0.058252	-7.935948	13.134546	6	97	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	75526299	75526300	14482	10	GG	TT	TT	TT	455	35	SEC24C	5	2
KCNMA1	3778	broad.mit.edu	37	10	78669850	78669850	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78669850G>A	uc001jxn.2	-	c.3021C>T	c.(3019-3021)AAC>AAT	p.N1007N	KCNMA1_uc001jxj.2_Silent_p.N953N|KCNMA1_uc001jxk.1_Silent_p.N625N|KCNMA1_uc009xrt.1_Silent_p.N798N|KCNMA1_uc001jxl.1_Silent_p.N632N|KCNMA1_uc001jxo.2_Silent_p.N990N|KCNMA1_uc001jxm.2_Silent_p.N949N|KCNMA1_uc001jxq.2_Silent_p.N979N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1007	Calcium bowl.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.228571	19.981789	22.346994	8	27	KEEP	---	---	---	---	capture		Silent	SNP	78669850	78669850	8378	10	G	A	A	A	516	40	KCNMA1	1	1
MMP1	4312	broad.mit.edu	37	11	102667843	102667843	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102667843A>G	uc001phi.2	-	c.401T>C	c.(400-402)ATT>ACT	p.I134T	MMP1_uc010ruv.1_Missense_Mutation_p.I68T	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	134	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)						227				0.17284	32.301165	40.487871	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102667843	102667843	10038	11	A	G	G	G	52	4	MMP1	4	4
C11orf87	399947	broad.mit.edu	37	11	109294724	109294724	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:109294724C>T	uc001pkn.2	+	c.365C>T	c.(364-366)GCC>GTC	p.A122V	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	122	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2														0.146341	7.682804	12.57074	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109294724	109294724	1709	11	C	T	T	T	338	26	C11orf87	2	2
THY1	7070	broad.mit.edu	37	11	119290907	119290907	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119290907G>T	uc001pwq.2	-	c.227C>A	c.(226-228)TCC>TAC	p.S76Y	THY1_uc001pwr.2_Missense_Mutation_p.S76Y|THY1_uc001pws.2_Non-coding_Transcript	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	76	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)										0.161616	27.035214	37.821371	16	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119290907	119290907	16413	11	G	T	T	T	533	41	THY1	2	2
SORL1	6653	broad.mit.edu	37	11	121448005	121448005	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121448005G>T	uc001pxx.2	+	c.3476G>T	c.(3475-3477)CGG>CTG	p.R1159L	SORL1_uc010rzp.1_Missense_Mutation_p.R5L	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1159	Extracellular (Potential).|LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.097222	6.079152	17.771089	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121448005	121448005	15434	11	G	T	T	T	507	39	SORL1	1	1
PLEKHA7	144100	broad.mit.edu	37	11	16812637	16812637	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16812637G>A	uc010rcu.1	-	c.2858C>T	c.(2857-2859)TCT>TTT	p.S953F	PLEKHA7_uc001mmo.2_Missense_Mutation_p.S952F|PLEKHA7_uc001mmm.2_Missense_Mutation_p.S55F|PLEKHA7_uc010rcv.1_Missense_Mutation_p.S527F|PLEKHA7_uc001mmn.2_Missense_Mutation_p.S661F	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	952					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.25	16.438255	17.801756	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16812637	16812637	12487	11	G	A	A	A	429	33	PLEKHA7	2	2
OR51G2	81282	broad.mit.edu	37	11	4936450	4936450	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936450C>A	uc001lzr.1	-	c.444G>T	c.(442-444)AGG>AGT	p.R148S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.2	11.73239	14.24467	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4936450	4936450	11509	11	C	A	A	A	389	30	OR51G2	2	2
OR4C12	283093	broad.mit.edu	37	11	50003113	50003113	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003113C>A	uc010ria.1	-	c.925G>T	c.(925-927)GAT>TAT	p.D309Y		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.2	8.887795	10.562554	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50003113	50003113	11452	11	C	A	A	A	377	29	OR4C12	2	2
OR4A15	81328	broad.mit.edu	37	11	55135511	55135511	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135511G>A	uc010rif.1	+	c.152G>A	c.(151-153)GGG>GAG	p.G51E		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	51	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.181818	15.887147	20.066696	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135511	55135511	11446	11	G	A	A	A	559	43	OR4A15	2	2
OR52E8	390079	broad.mit.edu	37	11	5878153	5878153	+	Silent	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5878153T>A	uc010qzr.1	-	c.780A>T	c.(778-780)GCA>GCT	p.A260A	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	260	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.121212	17.644	31.551906	12	87	KEEP	---	---	---	---	capture		Silent	SNP	5878153	5878153	11528	11	T	A	A	A	652	51	OR52E8	3	3
OR4D10	390197	broad.mit.edu	37	11	59245601	59245601	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59245601G>T	uc001nnz.1	+	c.699G>T	c.(697-699)AGG>AGT	p.R233S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.118812	11.324079	25.658742	12	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59245601	59245601	11461	11	G	T	T	T	529	41	OR4D10	2	2
OR4D9	390199	broad.mit.edu	37	11	59282609	59282609	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59282609C>A	uc010rkv.1	+	c.224C>A	c.(223-225)TCC>TAC	p.S75Y		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.151724	33.556089	50.4029	22	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59282609	59282609	11466	11	C	A	A	A	390	30	OR4D9	2	2
ODZ4	26011	broad.mit.edu	37	11	78433851	78433851	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78433851T>G	uc001ozl.3	-	c.3662A>C	c.(3661-3663)AAC>ACC	p.N1221T		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1221	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.115385	6.814794	14.390177	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78433851	78433851	11242	11	T	G	G	G	780	60	ODZ4	4	4
SLC17A8	246213	broad.mit.edu	37	12	100774659	100774659	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100774659C>A	uc010svi.1	+	c.282C>A	c.(280-282)TGC>TGA	p.C94*	SLC17A8_uc009ztx.2_Nonsense_Mutation_p.C94*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	94	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3														0.074627	-1.475046	10.966313	5	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100774659	100774659	14919	12	C	A	A	A	324	25	SLC17A8	5	2
ACACB	32	broad.mit.edu	37	12	109665277	109665277	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109665277G>T	uc001tob.2	+	c.3984G>T	c.(3982-3984)CCG>CCT	p.P1328P	ACACB_uc001toc.2_Silent_p.P1328P|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.2_5'Flank|ACACB_uc010sxm.1_5'Flank	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1328					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.176471	6.41548	8.091712	3	14	KEEP	---	---	---	---	capture		Silent	SNP	109665277	109665277	108	12	G	T	T	T	509	40	ACACB	1	1
OAS3	4940	broad.mit.edu	37	12	113385773	113385773	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113385773G>C	uc001tug.2	+	c.898G>C	c.(898-900)GAC>CAC	p.D300H		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	300	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.153846	7.682699	10.661885	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113385773	113385773	11206	12	G	C	C	C	585	45	OAS3	3	3
MSI1	4440	broad.mit.edu	37	12	120800882	120800882	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120800882C>A	uc001tye.1	-	c.366G>T	c.(364-366)GTG>GTT	p.V122V		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	122	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.123596	12.665555	25.000403	11	78	KEEP	---	---	---	---	capture		Silent	SNP	120800882	120800882	10268	12	C	A	A	A	262	21	MSI1	2	2
SLCO1A2	6579	broad.mit.edu	37	12	21453282	21453282	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21453282C>G	uc001rer.2	-	c.910G>C	c.(910-912)GAT>CAT	p.D304H	SLCO1A2_uc001res.2_Missense_Mutation_p.D304H|SLCO1A2_uc010siq.1_Missense_Mutation_p.D172H|SLCO1A2_uc010sio.1_Missense_Mutation_p.D172H|SLCO1A2_uc010sip.1_Missense_Mutation_p.D172H|SLCO1A2_uc001ret.2_Missense_Mutation_p.D302H|SLCO1A2_uc001reu.2_Missense_Mutation_p.D284H	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	304	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.142857	4.109717	6.692497	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21453282	21453282	15219	12	C	G	G	G	312	24	SLCO1A2	3	3
PYROXD1	79912	broad.mit.edu	37	12	21621465	21621465	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21621465C>T	uc001rew.2	+	c.1280C>T	c.(1279-1281)GCA>GTA	p.A427V	PYROXD1_uc009ziq.2_Missense_Mutation_p.A168V|PYROXD1_uc009zir.2_Missense_Mutation_p.A133V	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	427					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.207547	23.792801	27.994882	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21621465	21621465	13324	12	C	T	T	T	325	25	PYROXD1	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										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)			0.4	12.498435	12.585754	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
GXYLT1	283464	broad.mit.edu	37	12	42499724	42499724	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:42499724C>T	uc001rms.3	-	c.760G>A	c.(760-762)GGA>AGA	p.G254R	GXYLT1_uc001rmt.3_Missense_Mutation_p.G223R	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	254	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0														0.25	16.996516	18.602019	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42499724	42499724	7183	12	C	T	T	T	312	24	GXYLT1	2	2
COL2A1	1280	broad.mit.edu	37	12	48369122	48369122	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48369122G>A	uc001rqu.2	-	c.3864C>T	c.(3862-3864)CTC>CTT	p.L1288L	COL2A1_uc001rqt.2_Silent_p.L69L|COL2A1_uc009zkw.2_Non-coding_Transcript|COL2A1_uc001rqv.2_Silent_p.L1219L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1288	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.146341	9.020247	13.952816	6	35	KEEP	---	---	---	---	capture		Silent	SNP	48369122	48369122	3825	12	G	A	A	A	418	33	COL2A1	2	2
LARP4	113251	broad.mit.edu	37	12	50869442	50869442	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50869442C>T	uc001rwo.1	+	c.1988C>T	c.(1987-1989)CCT>CTT	p.P663L	LARP4_uc001rwp.1_Missense_Mutation_p.P657L|LARP4_uc001rwq.1_Missense_Mutation_p.P586L|LARP4_uc001rwr.1_Missense_Mutation_p.P586L|LARP4_uc001rws.1_Missense_Mutation_p.P656L|LARP4_uc009zlr.1_Missense_Mutation_p.P456L|LARP4_uc001rwt.1_Missense_Mutation_p.P248L	NM_199188	NP_954658	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform b	657							nucleotide binding|RNA binding			ovary(1)	1														0.095238	5.136381	18.952019	8	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50869442	50869442	8953	12	C	T	T	T	312	24	LARP4	2	2
ZBTB39	9880	broad.mit.edu	37	12	57398384	57398384	+	Silent	SNP	A	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57398384A>G	uc001sml.1	-	c.318T>C	c.(316-318)GCT>GCC	p.A106A	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.134228	28.193941	47.536507	20	129	KEEP	---	---	---	---	capture		Silent	SNP	57398384	57398384	18126	12	A	G	G	G	80	7	ZBTB39	4	4
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	T	T	rs77154254		TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6646512G>T	uc001qop.1	+	c.481G>T	c.(481-483)GCC>TCC	p.A161S	GAPDH_uc009zep.1_Missense_Mutation_p.A119S|GAPDH_uc001qoq.1_Missense_Mutation_p.A86S|GAPDH_uc001qor.1_Missense_Mutation_p.A120S|GAPDH_uc001qos.1_Missense_Mutation_p.A161S|GAPDH_uc001qot.1_Missense_Mutation_p.A161S|GAPDH_uc001qou.1_Missense_Mutation_p.A120S|GAPDH_uc001qov.1_Missense_Mutation_p.A119S|GAPDH_uc001qow.1_Missense_Mutation_p.A114S|GAPDH_uc001qox.1_5'UTR	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					gluconeogenesis|glycolysis|neuron apoptosis|oxidation-reduction process|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)									0.136364	4.610817	7.426943	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6646512	6646512	6500	12	G	T	T	T	546	42	GAPDH	2	2
ACRBP	84519	broad.mit.edu	37	12	6754460	6754460	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6754460G>A	uc001qpu.1	-	c.401C>T	c.(400-402)ACT>ATT	p.T134I	ACRBP_uc010sfg.1_Missense_Mutation_p.T134I	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	134						acrosomal vesicle|extracellular region				central_nervous_system(1)	1														0.15625	8.859089	12.464933	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6754460	6754460	171	12	G	A	A	A	468	36	ACRBP	2	2
ZC3H13	23091	broad.mit.edu	37	13	46543636	46543636	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46543636C>T	uc010tfw.1	-	c.3043G>A	c.(3043-3045)GAT>AAT	p.D1015N	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.D1015N|ZC3H13_uc001vat.1_Missense_Mutation_p.D1015N	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1015	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.144578	19.840346	29.935629	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46543636	46543636	18153	13	C	T	T	T	377	29	ZC3H13	2	2
SLITRK1	114798	broad.mit.edu	37	13	84455171	84455171	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455171C>A	uc001vlk.2	-	c.472G>T	c.(472-474)GTG>TTG	p.V158L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	158	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.097222	4.195372	15.87503	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455171	84455171	15240	13	C	A	A	A	234	18	SLITRK1	2	2
CHD8	57680	broad.mit.edu	37	14	21864052	21864052	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21864052C>T	uc001was.1	-	c.4215_splice	c.e28-1	p.G1405_splice	CHD8_uc001war.1_Splice_Site_SNP_p.G1301_splice	NM_020920	NP_065971			chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.110497	21.758356	48.937041	20	161	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	21864052	21864052	3465	14	C	T	T	T	312	24	CHD8	5	2
PSME2	5721	broad.mit.edu	37	14	24615758	24615758	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24615758C>A	uc001wmj.2	-	c.33G>T	c.(31-33)GGG>GGT	p.G11G	PSME2_uc001wmk.2_5'UTR|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	proteasome activator subunit 2	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex					0				GBM - Glioblastoma multiforme(265;0.00839)										0.111111	4.17354	9.556589	4	32	KEEP	---	---	---	---	capture		Silent	SNP	24615758	24615758	13160	14	C	A	A	A	275	22	PSME2	2	2
SSTR1	6751	broad.mit.edu	37	14	38679765	38679765	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38679765C>T	uc001wul.1	+	c.1171C>T	c.(1171-1173)CTC>TTC	p.L391F	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	391	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)	4	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;0.00444)	Octreotide(DB00104)									0.310345	21.265564	22.194398	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38679765	38679765	15713	14	C	T	T	T	364	28	SSTR1	2	2
PPP2R5E	5529	broad.mit.edu	37	14	63920452	63920452	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63920452G>A	uc001xgd.1	-	c.309C>T	c.(307-309)AGC>AGT	p.S103S	PPP2R5E_uc010tsf.1_Silent_p.S27S|PPP2R5E_uc010tsg.1_Silent_p.S27S|PPP2R5E_uc001xge.2_Silent_p.S103S|PPP2R5E_uc010tsh.1_Silent_p.S103S|PPP2R5E_uc001xgf.1_Intron|PPP2R5E_uc001xgg.3_Silent_p.S103S	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	103					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)										0.122807	16.564768	32.445959	14	100	KEEP	---	---	---	---	capture		Silent	SNP	63920452	63920452	12832	14	G	A	A	A	594	46	PPP2R5E	2	2
TTLL5	23093	broad.mit.edu	37	14	76330023	76330023	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76330023G>T	uc010ask.1	+	c.3385G>T	c.(3385-3387)GGG>TGG	p.G1129W	TTLL5_uc001xrx.2_Missense_Mutation_p.G1114W|TTLL5_uc001xrz.2_Missense_Mutation_p.G689W|TTLL5_uc001xsa.2_Missense_Mutation_p.G188W	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1114					protein modification process|transcription, DNA-dependent	cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)										0.121951	17.93205	35.159656	15	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76330023	76330023	17285	14	G	T	T	T	455	35	TTLL5	2	2
TTC7B	145567	broad.mit.edu	37	14	91155922	91155922	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91155922G>T	uc001xyp.2	-	c.912C>A	c.(910-912)TAC>TAA	p.Y304*	TTC7B_uc010ats.2_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	304							binding			ovary(2)	2		Melanoma(154;0.222)												0.086957	0.483131	8.412418	4	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	91155922	91155922	17268	14	G	T	T	T	620	48	TTC7B	5	2
GABRB3	2562	broad.mit.edu	37	15	26825498	26825498	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26825498C>A	uc001zbb.2	-	c.818G>T	c.(817-819)CGT>CTT	p.R273L	GABRB3_uc010uae.1_Missense_Mutation_p.R132L|GABRB3_uc001zaz.2_Missense_Mutation_p.R217L|GABRB3_uc001zba.2_Missense_Mutation_p.R217L	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	217	Extracellular (Probable).		R -> H (in insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors).		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.116667	15.567132	32.921762	14	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26825498	26825498	6419	15	C	A	A	A	247	19	GABRB3	1	1
OCA2	4948	broad.mit.edu	37	15	28000612	28000612	+	Silent	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28000612G>C	uc001zbh.3	-	c.2439C>G	c.(2437-2439)GGC>GGG	p.G813G	OCA2_uc010ayv.2_Silent_p.G789G	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	813	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.147059	20.127512	28.245552	10	58	KEEP	---	---	---	---	capture		Silent	SNP	28000612	28000612	11220	15	G	C	C	C	431	34	OCA2	3	3
RYR3	6263	broad.mit.edu	37	15	33955863	33955863	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33955863C>A	uc001zhi.2	+	c.5544C>A	c.(5542-5544)CTC>CTA	p.L1848L	RYR3_uc010bar.2_Silent_p.L1848L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1848	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.214286	13.233667	15.345372	6	22	KEEP	---	---	---	---	capture		Silent	SNP	33955863	33955863	14250	15	C	A	A	A	366	29	RYR3	2	2
C15orf55	256646	broad.mit.edu	37	15	34647923	34647923	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34647923C>A	uc010ucc.1	+	c.1714C>A	c.(1714-1716)CTA>ATA	p.L572I	C15orf55_uc010ucd.1_Missense_Mutation_p.L562I|C15orf55_uc001zif.2_Missense_Mutation_p.L544I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	544						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.148437	32.357073	47.527886	19	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34647923	34647923	1853	15	C	A	A	A	311	24	C15orf55	2	2
EIF2AK4	440275	broad.mit.edu	37	15	40259689	40259689	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40259689G>T	uc001zkm.1	+	c.1162G>T	c.(1162-1164)GCT>TCT	p.A388S	EIF2AK4_uc001zkl.2_Missense_Mutation_p.A388S|EIF2AK4_uc010bbj.1_Missense_Mutation_p.A117S	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	388	Protein kinase 1.				protein phosphorylation|translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)						876				0.06383	-5.82483	12.77868	6	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40259689	40259689	5188	15	G	T	T	T	598	46	EIF2AK4	2	2
TTBK2	146057	broad.mit.edu	37	15	43086859	43086859	+	Silent	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43086859C>T	uc001zqo.2	-	c.963G>A	c.(961-963)TTG>TTA	p.L321L	TTBK2_uc010bcy.2_Silent_p.L252L|TTBK2_uc001zqp.2_Silent_p.L321L|TTBK2_uc010bcz.1_Silent_p.L286L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	321					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)	6		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)					p.L321F(CJM-Tumor)	253				0.054054	-7.465705	8.056684	4	70	KEEP	---	---	---	---	capture		Silent	SNP	43086859	43086859	17231	15	C	T	T	T	376	29	TTBK2	2	2
MYO1E	4643	broad.mit.edu	37	15	59553679	59553679	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59553679G>A	uc002aga.2	-	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	59	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)										0.075472	-2.368063	17.211614	8	98	KEEP	---	---	---	---	capture		Silent	SNP	59553679	59553679	10467	15	G	A	A	A	574	45	MYO1E	2	2
FANCI	55215	broad.mit.edu	37	15	89816700	89816700	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89816700G>T	uc010bnp.1	+	c.975G>T	c.(973-975)CAG>CAT	p.Q325H	FANCI_uc002bnm.1_Missense_Mutation_p.Q325H|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.Q146H	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	325					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)									1164				0.1	4.335147	12.328446	5	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89816700	89816700	5905	15	G	T	T	T	451	35	FANCI	2	2
ANPEP	290	broad.mit.edu	37	15	90348600	90348600	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90348600G>A	uc002bop.3	-	c.709C>T	c.(709-711)CTT>TTT	p.L237F		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	237	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.142857	15.386878	24.84749	11	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90348600	90348600	718	15	G	A	A	A	442	34	ANPEP	2	2
PRKCB	5579	broad.mit.edu	37	16	24135199	24135199	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24135199C>T	uc002dme.2	+	c.962C>T	c.(961-963)ACG>ATG	p.T321M	PRKCB_uc002dmd.2_Missense_Mutation_p.T321M	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	321					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)				p.T321M(P3HR1-Tumor)	395				0.131868	33.579376	57.542708	24	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24135199	24135199	12951	16	C	T	T	T	247	19	PRKCB	1	1
ZSCAN10	84891	broad.mit.edu	37	16	3142081	3142081	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3142081G>T	uc002ctv.1	-	c.468C>A	c.(466-468)CCC>CCA	p.P156P	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Silent_p.P84P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	156	Pro-rich.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)	1														0.151515	7.466178	11.296575	5	28	KEEP	---	---	---	---	capture		Silent	SNP	3142081	3142081	18831	16	G	T	T	T	548	43	ZSCAN10	2	2
CDH11	1009	broad.mit.edu	37	16	65005562	65005562	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65005562G>A	uc002eoi.2	-	c.1562C>T	c.(1561-1563)ACG>ATG	p.T521M	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_Missense_Mutation_p.T521M|CDH11_uc010vin.1_Missense_Mutation_p.T395M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	521	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.059701	-5.01424	8.535137	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65005562	65005562	3226	16	G	A	A	A	520	40	CDH11	1	1
FHOD1	29109	broad.mit.edu	37	16	67266053	67266053	+	Silent	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67266053G>C	uc002esl.2	-	c.2091C>G	c.(2089-2091)CCC>CCG	p.P697P	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.P504P	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	697	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)										0.1	0.966885	7.368141	4	36	KEEP	---	---	---	---	capture		Silent	SNP	67266053	67266053	6120	16	G	C	C	C	600	47	FHOD1	3	3
CNTNAP4	85445	broad.mit.edu	37	16	76501344	76501344	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76501344G>T	uc002fex.1	+	c.1588G>T	c.(1588-1590)GAT>TAT	p.D530Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.D527Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.D391Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.D454Y|CNTNAP4_uc002few.2_Missense_Mutation_p.D502Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	527	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.177778	15.370751	19.772411	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76501344	76501344	3787	16	G	T	T	T	429	33	CNTNAP4	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77389870	77389870	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77389870G>T	uc002ffc.3	-	c.1427C>A	c.(1426-1428)TCC>TAC	p.S476Y	ADAMTS18_uc010chc.1_Missense_Mutation_p.S64Y|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S172Y|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.061538	-5.355284	7.688908	4	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77389870	77389870	264	16	G	T	T	T	533	41	ADAMTS18	2	2
CDH13	1012	broad.mit.edu	37	16	83704557	83704557	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:83704557G>T	uc002fgx.2	+	c.1264G>T	c.(1264-1266)GGG>TGG	p.G422W	CDH13_uc010vns.1_Missense_Mutation_p.G469W|CDH13_uc010vnt.1_Missense_Mutation_p.G168W|CDH13_uc010vnu.1_Missense_Mutation_p.G383W	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	422	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)										0.122677	43.275288	80.776487	33	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83704557	83704557	3228	16	G	T	T	T	455	35	CDH13	2	2
ATP2C2	9914	broad.mit.edu	37	16	84476176	84476176	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84476176G>A	uc010chj.2	+	c.1372G>A	c.(1372-1374)GAG>AAG	p.E458K	ATP2C2_uc002fhx.2_Missense_Mutation_p.E458K|ATP2C2_uc002fhy.2_Missense_Mutation_p.E475K|ATP2C2_uc002fhz.2_Missense_Mutation_p.E307K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	458	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2														0.032967	-31.563358	11.720735	6	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84476176	84476176	1163	16	G	A	A	A	481	37	ATP2C2	1	1
MYH13	8735	broad.mit.edu	37	17	10222425	10222425	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10222425G>T	uc002gmk.1	-	c.3420C>A	c.(3418-3420)CGC>CGA	p.R1140R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1140	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.129032	22.658648	39.238702	16	108	KEEP	---	---	---	---	capture		Silent	SNP	10222425	10222425	10427	17	G	T	T	T	431	34	MYH13	2	2
DNAH9	1770	broad.mit.edu	37	17	11584180	11584180	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11584180G>T	uc002gne.2	+	c.3717G>T	c.(3715-3717)GAG>GAT	p.E1239D	DNAH9_uc010coo.2_Missense_Mutation_p.E533D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1239	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.166667	8.857116	12.017229	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11584180	11584180	4791	17	G	T	T	T	438	34	DNAH9	2	2
EPN2	22905	broad.mit.edu	37	17	19186825	19186825	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19186825G>T	uc002gvd.3	+	c.393G>T	c.(391-393)GTG>GTT	p.V131V	EPN2_uc002gvc.2_Silent_p.V131V|EPN2_uc010vyn.1_Silent_p.V131V|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Silent_p.V131V|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Silent_p.V131V|EPN2_uc010vyp.1_Silent_p.V131V|EPN2_uc010vyq.1_Silent_p.V131V|EPN2_uc002gvh.1_Silent_p.V131V	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	131	ENTH.				endocytosis		lipid binding				0	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)													0.173077	35.912599	46.388731	18	86	KEEP	---	---	---	---	capture		Silent	SNP	19186825	19186825	5379	17	G	T	T	T	600	47	EPN2	2	2
EFCAB5	374786	broad.mit.edu	37	17	28383151	28383151	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28383151T>A	uc002het.2	+	c.2342T>A	c.(2341-2343)ATC>AAC	p.I781N	EFCAB5_uc010wbi.1_Missense_Mutation_p.I524N|EFCAB5_uc010wbj.1_Missense_Mutation_p.I725N|EFCAB5_uc010wbk.1_Missense_Mutation_p.I438N|EFCAB5_uc010csd.2_Non-coding_Transcript|EFCAB5_uc010cse.2_Missense_Mutation_p.I660N|EFCAB5_uc010csf.2_Missense_Mutation_p.I660N	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	781							calcium ion binding			ovary(1)|skin(1)	2														0.176471	12.930504	16.283218	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28383151	28383151	5125	17	T	A	A	A	650	50	EFCAB5	3	3
RHBDL3	162494	broad.mit.edu	37	17	30643270	30643270	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30643270G>T	uc002hhe.1	+	c.902G>T	c.(901-903)TGC>TTC	p.C301F	RHBDL3_uc010csw.1_Missense_Mutation_p.C293F|RHBDL3_uc010csx.1_Silent_p.V267V|RHBDL3_uc010csy.1_Missense_Mutation_p.C203F|RHBDL3_uc002hhf.1_Missense_Mutation_p.C203F	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	301						integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)												0.153846	44.796782	65.647307	28	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30643270	30643270	13798	17	G	T	T	T	598	46	RHBDL3	2	2
OR1E1	8387	broad.mit.edu	37	17	3300975	3300975	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3300975G>T	uc002fvj.1	-	c.730C>A	c.(730-732)CAC>AAC	p.H244N		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.210937	59.863986	69.750948	27	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3300975	3300975	11360	17	G	T	T	T	611	47	OR1E1	2	2
SLFN13	146857	broad.mit.edu	37	17	33772525	33772525	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33772525C>T	uc002hjk.1	-	c.175G>A	c.(175-177)GGA>AGA	p.G59R	SLFN13_uc010wch.1_Missense_Mutation_p.G59R|SLFN13_uc002hjl.2_Missense_Mutation_p.G59R|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_5'UTR	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	59						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)										0.056818	-6.700744	11.453259	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33772525	33772525	15233	17	C	T	T	T	312	24	SLFN13	2	2
MLLT6	4302	broad.mit.edu	37	17	36873842	36873842	+	Silent	SNP	T	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36873842T>G	uc002hqi.3	+	c.1809T>G	c.(1807-1809)TCT>TCG	p.S603S	MLLT6_uc002hqj.2_Silent_p.S38S|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	603					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			skin(1)	1	Breast(7;4.43e-21)									439				0.093023	2.169762	9.333116	4	39	KEEP	---	---	---	---	capture		Silent	SNP	36873842	36873842	10020	17	T	G	G	G	717	56	MLLT6	4	4
SCN4A	6329	broad.mit.edu	37	17	62049174	62049174	+	Silent	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62049174G>C	uc002jds.1	-	c.519C>G	c.(517-519)CTC>CTG	p.L173L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	173	Helical; Name=S2 of repeat I; (Potential).|I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.103448	2.702481	7.244133	3	26	KEEP	---	---	---	---	capture		Silent	SNP	62049174	62049174	14402	17	G	C	C	C	574	45	SCN4A	3	3
CHD3	1107	broad.mit.edu	37	17	7803982	7803982	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7803982G>A	uc002gjd.2	+	c.3088G>A	c.(3088-3090)GAT>AAT	p.D1030N	CHD3_uc002gje.2_Missense_Mutation_p.D971N|CHD3_uc002gjf.2_Missense_Mutation_p.D971N	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	971					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.155039	30.169849	44.936595	20	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7803982	7803982	3460	17	G	A	A	A	429	33	CHD3	2	2
PFAS	5198	broad.mit.edu	37	17	8167643	8167643	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8167643G>C	uc002gkr.2	+	c.1905G>C	c.(1903-1905)AAG>AAC	p.K635N	PFAS_uc010vuv.1_Missense_Mutation_p.K211N|PFAS_uc010cnw.1_Missense_Mutation_p.K135N|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	635					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.102564	3.869523	10.011612	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8167643	8167643	12176	17	G	C	C	C	425	33	PFAS	3	3
LAMA3	3909	broad.mit.edu	37	18	21474312	21474312	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21474312G>C	uc002kuq.2	+	c.5461G>C	c.(5461-5463)GAT>CAT	p.D1821H	LAMA3_uc002kur.2_Missense_Mutation_p.D1821H|LAMA3_uc002kus.3_Missense_Mutation_p.D212H|LAMA3_uc002kut.3_Missense_Mutation_p.D212H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1821	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.126866	22.178676	40.384528	17	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21474312	21474312	8930	18	G	C	C	C	611	47	LAMA3	3	3
MALT1	10892	broad.mit.edu	37	18	56390406	56390406	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56390406C>T	uc002lhm.1	+	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	MALT1_uc002lhn.1_Missense_Mutation_p.S371L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	382	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|central_nervous_system(1)	3										549				0.1	2.167723	8.565629	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56390406	56390406	9585	18	C	T	T	T	377	29	MALT1	2	2
ATP9B	374868	broad.mit.edu	37	18	77097342	77097342	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77097342G>A	uc002lmx.2	+	c.2176G>A	c.(2176-2178)GAG>AAG	p.E726K	ATP9B_uc002lmw.1_Missense_Mutation_p.E726K|ATP9B_uc002lmz.1_Missense_Mutation_p.E420K	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	726	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)										0.166667	14.399047	18.822957	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77097342	77097342	1218	18	G	A	A	A	481	37	ATP9B	1	1
HAUS8	93323	broad.mit.edu	37	19	17170423	17170423	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17170423T>C	uc002nfe.2	-	c.364A>G	c.(364-366)ACA>GCA	p.T122A	HAUS8_uc002nff.2_Missense_Mutation_p.T121A|HAUS8_uc002nfg.1_Missense_Mutation_p.T61A|HAUS8_uc002nfh.1_Missense_Mutation_p.T122A	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	122					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle pole					0														0.079365	1.626014	13.002814	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17170423	17170423	7254	19	T	C	C	C	780	60	HAUS8	4	4
ZNF708	7562	broad.mit.edu	37	19	21476864	21476864	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21476864G>C	uc002npq.1	-	c.904C>G	c.(904-906)CAT>GAT	p.H302D	ZNF708_uc002npr.1_Missense_Mutation_p.H238D|ZNF708_uc010ecs.1_Missense_Mutation_p.H238D	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	302	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)	4														0.108696	13.984283	27.938489	10	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21476864	21476864	18708	19	G	C	C	C	585	45	ZNF708	3	3
ZNF100	163227	broad.mit.edu	37	19	21909553	21909553	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21909553C>T	uc002nqi.2	-	c.1561G>A	c.(1561-1563)GAC>AAC	p.D521N	ZNF100_uc002nqh.2_Missense_Mutation_p.D457N	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.073171	-0.108173	7.57165	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21909553	21909553	18304	19	C	T	T	T	416	32	ZNF100	2	2
ZNF100	163227	broad.mit.edu	37	19	21909994	21909994	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21909994T>G	uc002nqi.2	-	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q	ZNF100_uc002nqh.2_Missense_Mutation_p.K310Q	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	374	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.092308	5.399262	16.274247	6	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21909994	21909994	18304	19	T	G	G	G	819	63	ZNF100	4	4
CEACAM7	1087	broad.mit.edu	37	19	42187792	42187792	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42187792G>A	uc002ori.1	-	c.630C>T	c.(628-630)GAC>GAT	p.D210D	CEACAM7_uc010ehx.2_Silent_p.D210D|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	210	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)										0.269663	120.172328	128.662268	48	130	KEEP	---	---	---	---	capture		Silent	SNP	42187792	42187792	3330	19	G	A	A	A	620	48	CEACAM7	2	2
NANOS2	339345	broad.mit.edu	37	19	46417902	46417902	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46417902T>A	uc002pdu.2	-	c.50A>T	c.(49-51)CAG>CTG	p.Q17L		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	17					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)										0.107692	6.176264	16.100147	7	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46417902	46417902	10548	19	T	A	A	A	715	55	NANOS2	3	3
KCNC3	3748	broad.mit.edu	37	19	50826952	50826952	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50826952G>A	uc002pru.1	-	c.1258C>T	c.(1258-1260)CGC>TGC	p.R420C	KCNC3_uc002prt.1_Missense_Mutation_p.R56C	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	420	Helical; Voltage-sensor; Name=Segment S4; (Potential).		R -> H (in SCA13; loss of channel activity).		cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		Melanoma(91;1496 2324 50908)								0.136364	4.911452	7.726935	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50826952	50826952	8321	19	G	A	A	A	507	39	KCNC3	1	1
FPR1	2357	broad.mit.edu	37	19	52249646	52249646	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52249646C>T	uc002pxq.2	-	c.602G>A	c.(601-603)AGA>AAA	p.R201K		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	201	Extracellular (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)									0.170732	43.197107	55.809599	21	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52249646	52249646	6284	19	C	T	T	T	416	32	FPR1	2	2
ZNF71	58491	broad.mit.edu	37	19	57133886	57133886	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57133886G>T	uc002qnm.3	+	c.1231G>T	c.(1231-1233)GTG>TTG	p.V411L		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	411	C2H2-type 11.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)										0.181034	44.439235	55.507001	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57133886	57133886	18710	19	G	T	T	T	520	40	ZNF71	1	1
MUC16	94025	broad.mit.edu	37	19	9059040	9059040	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9059040G>C	uc002mkp.2	-	c.28406C>G	c.(28405-28407)TCT>TGT	p.S9469C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9471	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.246073	130.637878	141.846499	47	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9059040	9059040	10367	19	G	C	C	C	429	33	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9073841	9073841	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9073841T>C	uc002mkp.2	-	c.13605A>G	c.(13603-13605)ATA>ATG	p.I4535M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4537	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														0.077519	2.664892	26.200454	10	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9073841	9073841	10367	19	T	C	C	C	784	61	MUC16	4	4
C1orf59	113802	broad.mit.edu	37	1	109193697	109193697	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109193697T>A	uc001dvt.3	-	c.533A>T	c.(532-534)GAT>GTT	p.D178V	C1orf59_uc001dvu.3_Missense_Mutation_p.D178V|C1orf59_uc009wer.2_Missense_Mutation_p.D178V	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	178					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)										0.14433	24.001405	35.799518	14	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109193697	109193697	2125	1	T	A	A	A	650	50	C1orf59	3	3
SRM	6723	broad.mit.edu	37	1	11115026	11115026	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11115026G>A	uc001arz.1	-	c.881C>T	c.(880-882)GCC>GTC	p.A294V	SRM_uc001ary.1_Missense_Mutation_p.A155V	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	294					spermidine biosynthetic process	cytosol	spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)									0.230769	5.52504	6.38652	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11115026	11115026	15665	1	G	A	A	A	546	42	SRM	2	2
DCST1	149095	broad.mit.edu	37	1	155006927	155006927	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155006927G>T	uc001fgn.1	+	c.78G>T	c.(76-78)CTG>CTT	p.L26L	DCST2_uc001fgm.2_5'Flank|DCST2_uc009wpb.2_5'Flank|DCST1_uc010per.1_Silent_p.L51L|DCST1_uc010pes.1_Silent_p.L26L	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	26	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)											0.072165	-6.067704	12.352334	7	90	KEEP	---	---	---	---	capture		Silent	SNP	155006927	155006927	4473	1	G	T	T	T	574	45	DCST1	2	2
FCRL3	115352	broad.mit.edu	37	1	157665171	157665171	+	Silent	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157665171T>A	uc001fqz.3	-	c.1359A>T	c.(1357-1359)GCA>GCT	p.A453A	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Silent_p.A179A|FCRL3_uc001frb.2_Silent_p.A453A|FCRL3_uc001frc.1_Silent_p.A453A	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	453	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.210526	137.860834	158.473821	56	210	KEEP	---	---	---	---	capture		Silent	SNP	157665171	157665171	6033	1	T	A	A	A	704	55	FCRL3	3	3
C1orf14	81626	broad.mit.edu	37	1	182920510	182920510	+	Silent	SNP	A	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182920510A>G	uc001gpu.2	-	c.498T>C	c.(496-498)AGT>AGC	p.S166S	C1orf14_uc001gpv.2_Silent_p.S47S|C1orf14_uc010pnz.1_Silent_p.S24S|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	238											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)										0.222222	13.2367	15.152815	6	21	KEEP	---	---	---	---	capture		Silent	SNP	182920510	182920510	2067	1	A	G	G	G	76	6	C1orf14	4	4
FAM129A	116496	broad.mit.edu	37	1	184764489	184764489	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:184764489G>A	uc001gra.2	-	c.2409C>T	c.(2407-2409)CTC>CTT	p.L803L	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	803	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)	3														0.076087	-3.125875	13.804931	7	85	KEEP	---	---	---	---	capture		Silent	SNP	184764489	184764489	5633	1	G	A	A	A	574	45	FAM129A	2	2
CDC73	79577	broad.mit.edu	37	1	193117052	193117052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:193117052G>T	uc001gtb.2	+	c.785G>T	c.(784-786)GGG>GTG	p.G262V		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	262					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(44)|ovary(1)|pancreas(1)	46										312				0.259259	17.912156	19.329703	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	193117052	193117052	3214	1	G	T	T	T	559	43	CDC73	2	2
KCNT2	343450	broad.mit.edu	37	1	196250087	196250087	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196250087C>G	uc001gtd.1	-	c.2813G>C	c.(2812-2814)AGA>ACA	p.R938T	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R864T|KCNT2_uc001gtf.1_Missense_Mutation_p.R914T|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Missense_Mutation_p.R914T|KCNT2_uc001gth.1_Missense_Mutation_p.R435T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	938	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.272727	15.202058	16.258246	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196250087	196250087	8397	1	C	G	G	G	416	32	KCNT2	3	3
CFH	3075	broad.mit.edu	37	1	196695702	196695702	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196695702G>T	uc001gtj.3	+	c.1976G>T	c.(1975-1977)TGC>TTC	p.C659F		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	659	Sushi 11.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.085366	2.059658	16.356573	7	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196695702	196695702	3416	1	G	T	T	T	598	46	CFH	2	2
CSRP1	1465	broad.mit.edu	37	1	201465415	201465415	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201465415C>T	uc001gws.2	-	c.17G>A	c.(16-18)GGA>GAA	p.G6E	CSRP1_uc010ppr.1_Missense_Mutation_p.G6E|CSRP1_uc010pps.1_Missense_Mutation_p.G6E	NM_004078	NP_004069	P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1 isoform 1	6						nucleus	zinc ion binding			ovary(1)	1														0.095745	4.737729	20.119357	9	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201465415	201465415	4107	1	C	T	T	T	390	30	CSRP1	2	2
NAV1	89796	broad.mit.edu	37	1	201751666	201751666	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201751666C>G	uc001gwu.2	+	c.2026C>G	c.(2026-2028)CCA>GCA	p.P676A	NAV1_uc001gwv.1_Missense_Mutation_p.P184A|NAV1_uc001gww.1_Missense_Mutation_p.P285A|NAV1_uc001gwx.2_Missense_Mutation_p.P285A|NAV1_uc001gwy.1_Missense_Mutation_p.P57A	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	676					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.284553	85.093088	90.21848	35	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201751666	201751666	10579	1	C	G	G	G	338	26	NAV1	3	3
CD34	947	broad.mit.edu	37	1	208072455	208072455	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:208072455C>T	uc001hgw.1	-	c.379G>A	c.(379-381)GTT>ATT	p.V127I	CD34_uc001hgx.1_Missense_Mutation_p.V127I|CD34_uc010psj.1_Intron	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	127	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	external side of plasma membrane|integral to membrane	carbohydrate binding			ovary(1)	1														0.045082	-32.031614	21.895582	11	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208072455	208072455	3134	1	C	T	T	T	247	19	CD34	1	1
ARID4B	51742	broad.mit.edu	37	1	235338529	235338529	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235338529G>T	uc001hwq.2	-	c.3634C>A	c.(3634-3636)CCC>ACC	p.P1212T	ARID4B_uc001hwr.2_Missense_Mutation_p.P1126T|ARID4B_uc001hwp.2_Non-coding_Transcript	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1212					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	chromatin binding|DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)											0.137097	24.302523	40.119172	17	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235338529	235338529	935	1	G	T	T	T	572	44	ARID4B	2	2
RYR2	6262	broad.mit.edu	37	1	237608767	237608767	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237608767T>G	uc001hyl.1	+	c.1237T>G	c.(1237-1239)TCA>GCA	p.S413A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	413	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.115385	14.208698	29.418241	12	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237608767	237608767	14249	1	T	G	G	G	650	50	RYR2	4	4
OR2B11	127623	broad.mit.edu	37	1	247615096	247615096	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247615096C>A	uc010pyx.1	-	c.189G>T	c.(187-189)ATG>ATT	p.M63I		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.307692	210.593062	218.745229	76	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247615096	247615096	11394	1	C	A	A	A	221	17	OR2B11	2	2
OR2AK2	391191	broad.mit.edu	37	1	248129009	248129010	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248129009_248129010GA>TT	uc010pzd.1	+	c.376_377GA>TT	c.(376-378)GAA>TTA	p.E126L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	126	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.111111	38.426028	84.181615	34	272	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	248129009	248129010	11392	1	GA	TT	TT	TT	585	45	OR2AK2	2	2
OR2M2	391194	broad.mit.edu	37	1	248343745	248343745	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343745C>G	uc010pzf.1	+	c.458C>G	c.(457-459)TCT>TGT	p.S153C		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)											0.056604	-11.640201	10.289619	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343745	248343745	11416	1	C	G	G	G	416	32	OR2M2	3	3
DLGAP3	58512	broad.mit.edu	37	1	35370101	35370101	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35370101G>A	uc001byc.2	-	c.884C>T	c.(883-885)TCC>TTC	p.S295F		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	295					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)												0.051852	-16.627427	12.042937	7	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35370101	35370101	4741	1	G	A	A	A	533	41	DLGAP3	2	2
ERRFI1	54206	broad.mit.edu	37	1	8075586	8075586	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8075586T>G	uc001aoz.2	-	c.94A>C	c.(94-96)ACC>CCC	p.T32P	ERRFI1_uc001apa.1_5'UTR	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	32					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)										0.100629	7.670456	33.361968	16	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8075586	8075586	5437	1	T	G	G	G	754	58	ERRFI1	4	4
LPAR3	23566	broad.mit.edu	37	1	85331432	85331432	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85331432G>A	uc001dkl.2	-	c.372C>T	c.(370-372)GCC>GCT	p.A124A	LPAR3_uc009wcj.1_Silent_p.A124A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	124	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				ovary(2)	2														0.084084	6.366394	64.842748	28	305	KEEP	---	---	---	---	capture		Silent	SNP	85331432	85331432	9279	1	G	A	A	A	496	39	LPAR3	1	1
PDYN	5173	broad.mit.edu	37	20	1961230	1961230	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1961230G>T	uc010gaj.2	-	c.504C>A	c.(502-504)CCC>CCA	p.P168P	PDYN_uc002wfv.2_Silent_p.P168P|PDYN_uc010zpt.1_Silent_p.P13P	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	168					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.112782	15.127825	34.817996	15	118	KEEP	---	---	---	---	capture		Silent	SNP	1961230	1961230	12120	20	G	T	T	T	600	47	PDYN	2	2
TMC2	117532	broad.mit.edu	37	20	2616585	2616585	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2616585T>A	uc002wgf.1	+	c.2320T>A	c.(2320-2322)TAC>AAC	p.Y774N	TMC2_uc002wgg.1_Missense_Mutation_p.Y758N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	774	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3														0.234375	35.799634	39.926711	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2616585	2616585	16515	20	T	A	A	A	689	53	TMC2	3	3
SYS1	90196	broad.mit.edu	37	20	43995536	43995536	+	Silent	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43995536C>T	uc002xnv.2	+	c.252C>T	c.(250-252)TTC>TTT	p.F84F	SYS1_uc010gha.2_Non-coding_Transcript|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	84	Helical; (Potential).				protein transport	Golgi membrane|integral to membrane					0		Myeloproliferative disorder(115;0.0122)												0.072165	-3.452721	14.827654	7	90	KEEP	---	---	---	---	capture		Silent	SNP	43995536	43995536	15985	20	C	T	T	T	376	29	SYS1	2	2
RBM11	54033	broad.mit.edu	37	21	15599378	15599378	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15599378G>T	uc002yjo.3	+	c.610G>T	c.(610-612)GCT>TCT	p.A204S	RBM11_uc002yjn.3_Missense_Mutation_p.A90S|RBM11_uc002yjp.3_Missense_Mutation_p.A90S	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	204							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)										0.10628	17.846339	49.673537	22	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15599378	15599378	13573	21	G	T	T	T	442	34	RBM11	2	2
PIGP	51227	broad.mit.edu	37	21	38437987	38437987	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:38437987C>A	uc002yvw.1	-	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	PIGP_uc002yvy.1_Non-coding_Transcript|PIGP_uc002yvx.1_Missense_Mutation_p.Q100H	NM_153681	NP_710148	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	124					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity				0		Myeloproliferative disorder(46;0.0412)												0.176471	13.608865	18.701247	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38437987	38437987	12319	21	C	A	A	A	415	32	PIGP	2	2
EP300	2033	broad.mit.edu	37	22	41572505	41572505	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41572505G>A	uc003azl.3	+	c.5034G>A	c.(5032-5034)GAG>GAA	p.E1678E		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1678	Binding region for E1A adenovirus.|ZZ-type.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.09901	5.870386	22.11737	10	91	KEEP	---	---	---	---	capture		Silent	SNP	41572505	41572505	5341	22	G	A	A	A	425	33	EP300	2	2
SULT4A1	25830	broad.mit.edu	37	22	44234824	44234824	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44234824T>A	uc003bee.1	-	c.431A>T	c.(430-432)CAG>CTG	p.Q144L	SULT4A1_uc003bed.1_Missense_Mutation_p.Q65L|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)										0.16	7.484609	10.236	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44234824	44234824	15903	22	T	A	A	A	715	55	SULT4A1	3	3
PKP4	8502	broad.mit.edu	37	2	159517892	159517892	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:159517892G>T	uc002tzv.2	+	c.2141G>T	c.(2140-2142)TGC>TTC	p.C714F	PKP4_uc002tzt.1_Missense_Mutation_p.C566F|PKP4_uc002tzu.2_Missense_Mutation_p.C714F|PKP4_uc002tzw.2_Missense_Mutation_p.C714F|PKP4_uc002tzx.2_Missense_Mutation_p.C371F|PKP4_uc002tzy.1_Missense_Mutation_p.C372F|PKP4_uc002uaa.2_Missense_Mutation_p.C566F|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	714	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)	5														0.086207	-0.270486	9.795081	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159517892	159517892	12412	2	G	T	T	T	598	46	PKP4	2	2
ABCB11	8647	broad.mit.edu	37	2	169787280	169787280	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169787280C>A	uc002ueo.1	-	c.3306G>T	c.(3304-3306)TCG>TCT	p.S1102S	ABCB11_uc010zda.1_Silent_p.S544S|ABCB11_uc010zdb.1_Silent_p.S578S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1102	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.068493	-2.167887	11.872845	5	68	KEEP	---	---	---	---	capture		Silent	SNP	169787280	169787280	43	2	C	A	A	A	392	31	ABCB11	1	1
NFE2L2	4780	broad.mit.edu	37	2	178098968	178098968	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178098968T>C	uc002ulh.3	-	c.77A>G	c.(76-78)CAA>CGA	p.Q26R	NFE2L2_uc002ulg.3_Missense_Mutation_p.Q10R|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q10R|NFE2L2_uc002uli.3_Missense_Mutation_p.Q10R|NFE2L2_uc010fra.2_Missense_Mutation_p.Q10R|NFE2L2_uc010frb.2_Missense_Mutation_p.Q10R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	26					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)											0.151515	8.552562	12.391723	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178098968	178098968	10768	2	T	C	C	C	819	63	NFE2L2	4	4
UNC80	285175	broad.mit.edu	37	2	210642159	210642159	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210642159G>T	uc010zjc.1	+	c.476G>T	c.(475-477)GGG>GTG	p.G159V	UNC80_uc002vdj.1_Missense_Mutation_p.G159V	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	159						integral to membrane					0														0.169643	32.157266	43.735814	19	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210642159	210642159	17554	2	G	T	T	T	559	43	UNC80	2	2
C2orf62	375307	broad.mit.edu	37	2	219231792	219231792	+	Silent	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219231792C>T	uc002vhr.2	+	c.801C>T	c.(799-801)ATC>ATT	p.I267I	C2orf62_uc002vhs.2_Non-coding_Transcript	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	267											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.222222	12.731371	14.653347	6	21	KEEP	---	---	---	---	capture		Silent	SNP	219231792	219231792	2269	2	C	T	T	T	369	29	C2orf62	2	2
ZNF142	7701	broad.mit.edu	37	2	219503289	219503289	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219503289G>A	uc002vin.2	-	c.4837C>T	c.(4837-4839)CTC>TTC	p.L1613F	ZNF142_uc002vil.2_Missense_Mutation_p.L1574F|ZNF142_uc010fvt.2_Missense_Mutation_p.L1450F|ZNF142_uc002vim.2_Missense_Mutation_p.L1450F	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1613	C2H2-type 30.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		Colon(170;867 1942 8995 15834 18053)								0.1	2.802771	7.59713	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219503289	219503289	18322	2	G	A	A	A	455	35	ZNF142	2	2
SPEG	10290	broad.mit.edu	37	2	220355303	220355303	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220355303C>A	uc010fwg.2	+	c.9094C>A	c.(9094-9096)CCT>ACT	p.P3032T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3032	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.242424	20.583761	22.580042	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220355303	220355303	15548	2	C	A	A	A	286	22	SPEG	2	2
NCOA1	8648	broad.mit.edu	37	2	24930338	24930338	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24930338G>T	uc002rfk.2	+	c.1999G>T	c.(1999-2001)GCC>TCC	p.A667S	NCOA1_uc010eye.2_Missense_Mutation_p.A667S|NCOA1_uc002rfi.2_Missense_Mutation_p.A516S|NCOA1_uc002rfj.2_Missense_Mutation_p.A667S|NCOA1_uc002rfl.2_Missense_Mutation_p.A667S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	667	Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.087912	1.6421	17.261844	8	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24930338	24930338	10627	2	G	T	T	T	598	46	NCOA1	2	2
NLRC4	58484	broad.mit.edu	37	2	32476460	32476460	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32476460A>T	uc002roi.2	-	c.473T>A	c.(472-474)CTG>CAG	p.L158Q	NLRC4_uc002roj.1_Missense_Mutation_p.L158Q|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	158					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.116279	6.843961	13.074858	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32476460	32476460	10872	2	A	T	T	T	91	7	NLRC4	3	3
BIRC6	57448	broad.mit.edu	37	2	32673994	32673994	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32673994C>T	uc010ezu.2	+	c.4616C>T	c.(4615-4617)TCA>TTA	p.S1539L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1539					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.150943	13.662547	19.852006	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32673994	32673994	1463	2	C	T	T	T	377	29	BIRC6	2	2
DHX57	90957	broad.mit.edu	37	2	39088728	39088728	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39088728C>A	uc002rrf.2	-	c.824G>T	c.(823-825)GGG>GTG	p.G275V	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.G275V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	275							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.081818	-0.173958	19.377288	9	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39088728	39088728	4692	2	C	A	A	A	286	22	DHX57	2	2
ZNF638	27332	broad.mit.edu	37	2	71576193	71576193	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71576193A>G	uc002shx.2	+	c.109A>G	c.(109-111)ATG>GTG	p.M37V	ZNF638_uc010fec.2_Missense_Mutation_p.M143V|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.M37V|ZNF638_uc002shy.2_Missense_Mutation_p.M37V|ZNF638_uc002shz.2_Missense_Mutation_p.M37V|ZNF638_uc002sia.2_Missense_Mutation_p.M37V|ZNF638_uc002sib.1_Missense_Mutation_p.M37V	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	37					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)	3														0.120773	38.2491	67.413898	25	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71576193	71576193	18650	2	A	G	G	G	208	16	ZNF638	4	4
HK2	3099	broad.mit.edu	37	2	75094768	75094768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:75094768G>T	uc002snd.2	+	c.232G>T	c.(232-234)GGA>TGA	p.G78*		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	78	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2														0.026667	-87.617296	23.719296	12	438	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75094768	75094768	7482	2	G	T	T	T	507	39	HK2	5	1
LRRTM4	80059	broad.mit.edu	37	2	77745944	77745944	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745944T>C	uc002snr.2	-	c.1051A>G	c.(1051-1053)AGT>GGT	p.S351G	LRRTM4_uc002snq.2_Missense_Mutation_p.S351G|LRRTM4_uc002sns.2_Missense_Mutation_p.S351G|LRRTM4_uc002snt.2_Missense_Mutation_p.S352G	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	351	LRRCT.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.157895	6.913332	9.032836	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77745944	77745944	9418	2	T	C	C	C	689	53	LRRTM4	4	4
VWA3B	200403	broad.mit.edu	37	2	98797496	98797496	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98797496G>T	uc002syo.2	+	c.1132G>T	c.(1132-1134)GTT>TTT	p.V378F	VWA3B_uc010yvh.1_Missense_Mutation_p.V228F|VWA3B_uc002syj.2_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.V378F|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.V35F	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	378										ovary(3)|large_intestine(2)	5														0.301887	45.579558	47.436991	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98797496	98797496	17810	2	G	T	T	T	624	48	VWA3B	2	2
SIAH2	6478	broad.mit.edu	37	3	150459978	150459978	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:150459978C>T	uc003eyi.2	-	c.925G>A	c.(925-927)GAT>AAT	p.D309N		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	309	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)											0.151163	24.92562	34.943894	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150459978	150459978	14795	3	C	T	T	T	416	32	SIAH2	2	2
IGSF10	285313	broad.mit.edu	37	3	151164577	151164577	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151164577C>A	uc011bod.1	-	c.3192G>T	c.(3190-3192)CTG>CTT	p.L1064L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1064					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.1625	22.825829	31.490137	13	67	KEEP	---	---	---	---	capture		Silent	SNP	151164577	151164577	7898	3	C	A	A	A	210	17	IGSF10	2	2
MECOM	2122	broad.mit.edu	37	3	168833844	168833844	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:168833844C>T	uc011bpj.1	-	c.1816G>A	c.(1816-1818)GAA>AAA	p.E606K	MECOM_uc010hwk.1_Missense_Mutation_p.E441K|MECOM_uc003ffj.3_Missense_Mutation_p.E483K|MECOM_uc003ffi.3_Missense_Mutation_p.E418K|MECOM_uc011bpi.1_Missense_Mutation_p.E419K|MECOM_uc003ffn.3_Missense_Mutation_p.E418K|MECOM_uc003ffk.2_Missense_Mutation_p.E418K|MECOM_uc003ffl.2_Missense_Mutation_p.E578K|MECOM_uc011bpk.1_Missense_Mutation_p.E408K|MECOM_uc010hwn.2_Missense_Mutation_p.E606K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q13465_after_alignment							sequence-specific DNA binding transcription factor activity			lung(3)|skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	8										646				0.061538	-4.754998	8.287548	4	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168833844	168833844	9811	3	C	T	T	T	377	29	MECOM	2	2
CCDC50	152137	broad.mit.edu	37	3	191107310	191107310	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:191107310G>A	uc003fsv.2	+	c.1348G>A	c.(1348-1350)GGT>AGT	p.G450S	CCDC50_uc003fsw.2_Missense_Mutation_p.G274S	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Ymer protein long isoform	274						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)						161				0.157191	89.453349	122.960296	47	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191107310	191107310	2943	3	G	A	A	A	611	47	CCDC50	2	2
SCN5A	6331	broad.mit.edu	37	3	38639328	38639328	+	Silent	SNP	A	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38639328A>G	uc003cio.2	-	c.2154T>C	c.(2152-2154)TTT>TTC	p.F718F	SCN5A_uc003cin.2_Silent_p.F718F|SCN5A_uc003cil.3_Silent_p.F718F|SCN5A_uc010hhi.2_Silent_p.F718F|SCN5A_uc010hhk.2_Silent_p.F718F|SCN5A_uc011ayr.1_Silent_p.F718F|SCN5A_uc010hhj.1_Silent_p.F329F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	718	Helical; Name=S1 of repeat II; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.106061	6.769359	16.972086	7	59	KEEP	---	---	---	---	capture		Silent	SNP	38639328	38639328	14404	3	A	G	G	G	167	13	SCN5A	4	4
MYL3	4634	broad.mit.edu	37	3	46904771	46904771	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46904771A>C	uc003cql.1	-	c.110T>G	c.(109-111)TTT>TGT	p.F37C		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	37					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|motor activity|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		Melanoma(166;130 1949 2249 18977 46142)								0.114754	17.663286	35.521332	14	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46904771	46904771	10443	3	A	C	C	C	13	1	MYL3	4	4
IMPDH2	3615	broad.mit.edu	37	3	49065198	49065198	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49065198G>A	uc003cvt.2	-	c.476C>T	c.(475-477)TCC>TTC	p.S159F		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	159	CBS 1.				GMP biosynthetic process|oxidation-reduction process|purine base metabolic process	cytosol	IMP dehydrogenase activity|metal ion binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)									0.179104	23.868297	30.354228	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49065198	49065198	8028	3	G	A	A	A	533	41	IMPDH2	2	2
RBM5	10181	broad.mit.edu	37	3	50148145	50148145	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50148145A>T	uc003cyg.2	+	c.1397A>T	c.(1396-1398)GAA>GTA	p.E466V	RBM5_uc011bdj.1_Missense_Mutation_p.E410V|RBM5_uc011bdk.1_Missense_Mutation_p.E294V|RBM5_uc003cyh.2_5'Flank	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	466	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.206897	11.830005	14.14437	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50148145	50148145	13605	3	A	T	T	T	117	9	RBM5	3	3
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54604068G>A	uc003dhf.2	+	c.825G>A	c.(823-825)GCG>GCA	p.A275A	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.A181A|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.A9A	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	275	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.182927	30.777178	38.519278	15	67	KEEP	---	---	---	---	capture		Silent	SNP	54604068	54604068	2666	3	G	A	A	A	470	37	CACNA2D3	1	1
TACR3	6870	broad.mit.edu	37	4	104640714	104640715	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104640714_104640715CC>AA	uc003hxe.1	-	c.118_119GG>TT	c.(118-120)GGG>TTG	p.G40L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	40	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.121212	3.817443	8.424744	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	104640714	104640715	16028	4	CC	AA	AA	AA	286	22	TACR3	2	2
ENPP6	133121	broad.mit.edu	37	4	185018489	185018489	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:185018489G>A	uc003iwc.2	-	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	342	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)										0.130435	8.856044	18.007835	9	60	KEEP	---	---	---	---	capture		Silent	SNP	185018489	185018489	5327	4	G	A	A	A	594	46	ENPP6	2	2
C4orf44	345222	broad.mit.edu	37	4	3254982	3254982	+	Silent	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3254982C>G	uc003ggs.2	+	c.369C>G	c.(367-369)CCC>CCG	p.P123P	C4orf44_uc003ggt.2_Silent_p.P123P	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	hypothetical protein LOC345222 isoform a	123											0														0.153846	5.587574	8.564102	4	22	KEEP	---	---	---	---	capture		Silent	SNP	3254982	3254982	2367	4	C	G	G	G	301	24	C4orf44	3	3
ATP10D	57205	broad.mit.edu	37	4	47548645	47548645	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47548645G>C	uc003gxk.1	+	c.1401G>C	c.(1399-1401)AGG>AGC	p.R467S	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.R452S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	467	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.033654	-34.12958	15.150282	7	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47548645	47548645	1137	4	G	C	C	C	529	41	ATP10D	3	3
SPATA18	132671	broad.mit.edu	37	4	52938291	52938291	+	Silent	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52938291C>T	uc003gzl.2	+	c.727C>T	c.(727-729)CTG>TTG	p.L243L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Silent_p.L211L|SPATA18_uc003gzk.1_Silent_p.L243L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	243	Potential.				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)											0.093168	7.801256	34.60795	15	146	KEEP	---	---	---	---	capture		Silent	SNP	52938291	52938291	15511	4	C	T	T	T	415	32	SPATA18	2	2
CPZ	8532	broad.mit.edu	37	4	8607717	8607717	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8607717G>A	uc003glm.2	+	c.711G>A	c.(709-711)ATG>ATA	p.M237I	CPZ_uc003gll.2_Non-coding_Transcript|CPZ_uc003gln.2_Missense_Mutation_p.M100I|CPZ_uc003glo.2_Missense_Mutation_p.M226I|CPZ_uc003glp.2_Non-coding_Transcript	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	237					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.111111	3.77207	9.157332	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8607717	8607717	3978	4	G	A	A	A	611	47	CPZ	2	2
GRID2	2895	broad.mit.edu	37	4	94436475	94436475	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94436475C>A	uc011cdt.1	+	c.2106C>A	c.(2104-2106)GAC>GAA	p.D702E	GRID2_uc011cdu.1_Missense_Mutation_p.D607E	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	702	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.097561	3.167412	9.817966	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94436475	94436475	7050	4	C	A	A	A	220	17	GRID2	2	2
APBB3	10307	broad.mit.edu	37	5	139941222	139941222	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139941222C>T	uc003lgd.1	-	c.712G>A	c.(712-714)GAT>AAT	p.D238N	APBB3_uc003lgb.1_Missense_Mutation_p.D10N|APBB3_uc003lgc.1_Missense_Mutation_p.D10N|APBB3_uc003lge.1_Missense_Mutation_p.D231N|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.D10N|APBB3_uc010jfq.1_Missense_Mutation_p.D10N	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	233	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.103659	8.74032	34.417509	17	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139941222	139941222	772	5	C	T	T	T	377	29	APBB3	2	2
PCDHA5	56143	broad.mit.edu	37	5	140203707	140203707	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140203707G>T	uc003lhl.2	+	c.2347G>T	c.(2347-2349)GAC>TAC	p.D783Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.D783Y|PCDHA5_uc003lhj.1_Missense_Mutation_p.D783Y	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	783	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.26087	13.237089	14.429545	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140203707	140203707	11947	5	G	T	T	T	429	33	PCDHA5	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140725412	140725412	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140725412G>T	uc003ljm.1	+	c.1812G>T	c.(1810-1812)CTG>CTT	p.L604L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.L364L|PCDHGA3_uc011dap.1_Silent_p.L604L	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.142857	6.580734	10.02273	4	24	KEEP	---	---	---	---	capture		Silent	SNP	140725412	140725412	11975	5	G	T	T	T	613	48	PCDHGA3	2	2
SLC36A1	206358	broad.mit.edu	37	5	150867731	150867731	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150867731G>T	uc003luc.2	+	c.1347G>T	c.(1345-1347)GTG>GTT	p.V449V	GM2A_uc011dcs.1_Intron	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	449	Helical; Name=11; (Potential).			VV -> GG (in Ref. 2; AAP47194).	cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.146341	16.620495	26.536993	12	70	KEEP	---	---	---	---	capture		Silent	SNP	150867731	150867731	15090	5	G	T	T	T	600	47	SLC36A1	2	2
ATP10B	23120	broad.mit.edu	37	5	160097613	160097613	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160097613T>C	uc003lym.1	-	c.532A>G	c.(532-534)ATG>GTG	p.M178V	ATP10B_uc003lyp.2_Missense_Mutation_p.M178V|ATP10B_uc011deg.1_Missense_Mutation_p.M222V|ATP10B_uc003lyo.2_Missense_Mutation_p.M150V	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	178	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.186916	50.338008	60.159789	20	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160097613	160097613	1136	5	T	C	C	C	676	52	ATP10B	4	4
SLIT3	6586	broad.mit.edu	37	5	168110989	168110989	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168110989G>A	uc010jjg.2	-	c.3689C>T	c.(3688-3690)CCT>CTT	p.P1230L	SLIT3_uc003mab.2_Missense_Mutation_p.P1223L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1223	Laminin G-like.				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)								0.122449	7.312005	14.156648	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168110989	168110989	15239	5	G	A	A	A	455	35	SLIT3	2	2
OR2V2	285659	broad.mit.edu	37	5	180582495	180582495	+	Silent	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582495T>C	uc011dhj.1	+	c.553T>C	c.(553-555)TTG>CTG	p.L185L		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	185	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)											0.086667	8.456492	34.405998	13	137	KEEP	---	---	---	---	capture		Silent	SNP	180582495	180582495	11437	5	T	C	C	C	725	56	OR2V2	4	4
IL7R	3575	broad.mit.edu	37	5	35874618	35874618	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35874618C>A	uc003jjs.2	+	c.774C>A	c.(772-774)ATC>ATA	p.I258I	IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	258	Helical; (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)	4	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)											0.166667	11.22557	15.01994	6	30	KEEP	---	---	---	---	capture		Silent	SNP	35874618	35874618	8006	5	C	A	A	A	408	32	IL7R	2	2
MAP7	9053	broad.mit.edu	37	6	136687027	136687027	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136687027C>G	uc011edg.1	-	c.1209G>C	c.(1207-1209)AAG>AAC	p.K403N	MAP7_uc011edf.1_Missense_Mutation_p.K358N|MAP7_uc010kgu.2_Missense_Mutation_p.K395N|MAP7_uc011edh.1_Missense_Mutation_p.K358N|MAP7_uc010kgv.2_Missense_Mutation_p.K395N|MAP7_uc010kgs.2_Missense_Mutation_p.K227N|MAP7_uc011edi.1_Missense_Mutation_p.K227N|MAP7_uc003qgz.2_Missense_Mutation_p.K373N|MAP7_uc010kgq.1_Missense_Mutation_p.K279N|MAP7_uc003qha.1_Missense_Mutation_p.K336N|MAP7_uc010kgr.2_Missense_Mutation_p.K227N	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	373	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)										0.205882	17.60527	20.33279	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136687027	136687027	9649	6	C	G	G	G	415	32	MAP7	3	3
GRM1	2911	broad.mit.edu	37	6	146350825	146350825	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146350825C>A	uc010khw.1	+	c.172C>A	c.(172-174)CCG>ACG	p.P58T	GRM1_uc010khu.1_Missense_Mutation_p.P58T|GRM1_uc010khv.1_Missense_Mutation_p.P58T|GRM1_uc003qll.2_Missense_Mutation_p.P58T|GRM1_uc011edz.1_Missense_Mutation_p.P58T|GRM1_uc011eea.1_Missense_Mutation_p.P58T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	58	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.178571	16.811281	22.265312	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146350825	146350825	7075	6	C	A	A	A	390	30	GRM1	2	2
IGF2R	3482	broad.mit.edu	37	6	160506118	160506118	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160506118G>T	uc003qta.2	+	c.6160G>T	c.(6160-6162)GTC>TTC	p.V2054F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2054	14.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.230769	31.676663	35.127899	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160506118	160506118	7877	6	G	T	T	T	520	40	IGF2R	1	1
PDE10A	10846	broad.mit.edu	37	6	165848759	165848759	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165848759G>T	uc003quo.2	-	c.503C>A	c.(502-504)TCC>TAC	p.S168Y	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.S88Y|PDE10A_uc003qun.2_Missense_Mutation_p.S158Y	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	158	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.08	-0.499465	8.462562	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165848759	165848759	12051	6	G	T	T	T	533	41	PDE10A	2	2
MBOAT1	154141	broad.mit.edu	37	6	20113209	20113209	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:20113209G>A	uc003ncx.1	-	c.1107C>T	c.(1105-1107)CCC>CCT	p.P369P	MBOAT1_uc011dji.1_Silent_p.P220P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	369					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)											0.15625	18.107074	25.32786	10	54	KEEP	---	---	---	---	capture		Silent	SNP	20113209	20113209	9744	6	G	A	A	A	600	47	MBOAT1	2	2
HIST1H2AB	8335	broad.mit.edu	37	6	26033628	26033628	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26033628C>T	uc003nft.1	-	c.169G>A	c.(169-171)GAG>AAG	p.E57K	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_003504	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	57					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.131579	5.748104	10.763636	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26033628	26033628	7414	6	C	T	T	T	377	29	HIST1H2AB	2	2
ORC3L	23595	broad.mit.edu	37	6	88299900	88299900	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88299900C>T	uc003pmg.2	+	c.14C>T	c.(13-15)TCG>TTG	p.S5L	ORC3L_uc011dzl.1_Missense_Mutation_p.S5L|ORC3L_uc011dzm.1_Missense_Mutation_p.S5L|ORC3L_uc011dzn.1_Non-coding_Transcript|ORC3L_uc003pmh.2_Missense_Mutation_p.S5L|ORC3L_uc003pmi.2_Missense_Mutation_p.S5L|ORC3L_uc011dzo.1_5'UTR|ORC3L_uc011dzp.1_5'UTR|RARS2_uc003pmb.2_5'Flank|RARS2_uc003pmc.2_5'Flank|RARS2_uc003pmd.2_5'Flank|RARS2_uc003pme.2_5'Flank|RARS2_uc003pmf.2_5'Flank	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 1	5					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)										0.138889	14.809741	23.879056	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88299900	88299900	11674	6	C	T	T	T	403	31	ORC3L	1	1
LRRN3	54674	broad.mit.edu	37	7	110763928	110763928	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110763928G>T	uc003vft.3	+	c.1100G>T	c.(1099-1101)AGT>ATT	p.S367I	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S367I|LRRN3_uc003vfs.3_Missense_Mutation_p.S367I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	367	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)										0.085106	0.56258	8.770703	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110763928	110763928	9412	7	G	T	T	T	468	36	LRRN3	2	2
C7orf53	286006	broad.mit.edu	37	7	112124917	112124917	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112124917G>C	uc011kmq.1	+	c.46G>C	c.(46-48)GAT>CAT	p.D16H	C7orf53_uc003vgl.2_Non-coding_Transcript|C7orf53_uc003vgm.2_Missense_Mutation_p.D16H	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	16						integral to membrane				ovary(1)	1														0.12963	21.563845	36.00787	14	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112124917	112124917	2509	7	G	C	C	C	429	33	C7orf53	3	3
FSCN1	6624	broad.mit.edu	37	7	5644976	5644976	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5644976C>A	uc003sou.2	+	c.1353C>A	c.(1351-1353)TTC>TTA	p.F451L	FSCN1_uc003sov.2_Missense_Mutation_p.F173L|FSCN1_uc003sow.2_3'UTR	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	451					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)										0.2	6.615859	7.871903	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5644976	5644976	6317	7	C	A	A	A	415	32	FSCN1	2	2
MAGI2	9863	broad.mit.edu	37	7	77649105	77649105	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77649105C>T	uc003ugx.2	-	c.3895G>A	c.(3895-3897)GAG>AAG	p.E1299K	MAGI2_uc003ugy.2_Missense_Mutation_p.E1285K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1299						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)												0.190476	8.990028	10.868954	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77649105	77649105	9574	7	C	T	T	T	390	30	MAGI2	2	2
PCLO	27445	broad.mit.edu	37	7	82582321	82582321	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82582321C>A	uc003uhx.2	-	c.7948G>T	c.(7948-7950)GCT>TCT	p.A2650S	PCLO_uc003uhv.2_Missense_Mutation_p.A2650S|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2581					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.166667	19.90453	28.173913	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82582321	82582321	12003	7	C	A	A	A	325	25	PCLO	2	2
PPP1R9A	55607	broad.mit.edu	37	7	94540638	94540638	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94540638A>T	uc010lfj.2	+	c.1213A>T	c.(1213-1215)AGG>TGG	p.R405W	PPP1R9A_uc003unp.2_Missense_Mutation_p.R405W|PPP1R9A_uc011kif.1_Missense_Mutation_p.R405W|PPP1R9A_uc003unq.2_Missense_Mutation_p.R405W|PPP1R9A_uc011kig.1_Missense_Mutation_p.R405W	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	405						cell junction|synapse|synaptosome	actin binding			ovary(2)|skin(1)	3	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)											0.157895	5.813282	7.933135	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94540638	94540638	12814	7	A	T	T	T	192	15	PPP1R9A	3	3
PDAP1	11333	broad.mit.edu	37	7	98995504	98995504	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98995504C>G	uc003uqe.2	-	c.468G>C	c.(466-468)AAG>AAC	p.K156N		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	156					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)									0.114754	8.575859	17.509778	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98995504	98995504	12034	7	C	G	G	G	415	32	PDAP1	3	3
TG	7038	broad.mit.edu	37	8	133898735	133898735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133898735C>A	uc003ytw.2	+	c.1118C>A	c.(1117-1119)TCC>TAC	p.S373Y		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	373					hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.132075	40.148628	75.01145	35	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133898735	133898735	16341	8	C	A	A	A	390	30	TG	2	2
ZDHHC2	51201	broad.mit.edu	37	8	17055906	17055906	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17055906G>C	uc003wxe.2	+	c.460G>C	c.(460-462)GAT>CAT	p.D154H		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	154	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)										0.076923	0.602732	7.739994	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17055906	17055906	18198	8	G	C	C	C	533	41	ZDHHC2	3	3
ST18	9705	broad.mit.edu	37	8	53055541	53055541	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53055541G>C	uc003xqz.2	-	c.2117C>G	c.(2116-2118)CCA>CGA	p.P706R	ST18_uc011ldq.1_Missense_Mutation_p.P353R|ST18_uc011ldr.1_Missense_Mutation_p.P671R|ST18_uc011lds.1_Missense_Mutation_p.P611R|ST18_uc003xra.2_Missense_Mutation_p.P706R	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	706						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.124138	23.703857	43.686896	18	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53055541	53055541	15730	8	G	C	C	C	611	47	ST18	3	3
RBM12B	389677	broad.mit.edu	37	8	94747019	94747019	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94747019G>A	uc003yfz.2	-	c.1620C>T	c.(1618-1620)TTC>TTT	p.F540F		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	540							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)											0.066667	-3.351138	8.332294	4	56	KEEP	---	---	---	---	capture		Silent	SNP	94747019	94747019	13575	8	G	A	A	A	581	45	RBM12B	2	2
TMEFF1	8577	broad.mit.edu	37	9	103338824	103338824	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103338824G>T	uc004bay.1	+	c.1307G>T	c.(1306-1308)CGT>CTT	p.R436L	TMEFF1_uc004baz.1_Missense_Mutation_p.R362L|MURC_uc004bba.2_5'Flank	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	362	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)												0.071429	-2.561083	18.610577	8	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103338824	103338824	16543	9	G	T	T	T	520	40	TMEFF1	1	1
FAM129B	64855	broad.mit.edu	37	9	130270748	130270748	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130270748C>A	uc004brh.2	-	c.1387G>T	c.(1387-1389)GAG>TAG	p.E463*	FAM129B_uc004bri.2_Nonsense_Mutation_p.E450*|FAM129B_uc004brj.3_Nonsense_Mutation_p.E463*	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	450							protein binding				0														0.090909	1.243509	10.515171	5	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130270748	130270748	5634	9	C	A	A	A	390	30	FAM129B	5	2
GOLGA2	2801	broad.mit.edu	37	9	131019381	131019381	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131019381C>T	uc011maw.1	-	c.2974G>A	c.(2974-2976)GAC>AAC	p.D992N	GOLGA2_uc010mxw.2_Missense_Mutation_p.D315N|GOLGA2_uc004buh.2_Missense_Mutation_p.D342N	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	992						Golgi cisterna membrane	protein binding			ovary(1)	1														0.092896	7.444171	37.953847	17	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131019381	131019381	6821	9	C	T	T	T	377	29	GOLGA2	2	2
MRPS2	51116	broad.mit.edu	37	9	138395821	138395821	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138395821G>T	uc004cfv.3	+	c.733G>T	c.(733-735)GCT>TCT	p.A245S	MRPS2_uc004cfw.3_Missense_Mutation_p.A155S|MRPS2_uc004cfx.3_Missense_Mutation_p.A160S|MRPS2_uc010nat.2_Missense_Mutation_p.A226S	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	245					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)										0.131579	7.060441	12.063541	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138395821	138395821	10224	9	G	T	T	T	546	42	MRPS2	2	2
ACO1	48	broad.mit.edu	37	9	32434696	32434696	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32434696G>A	uc003zqw.3	+	c.2096G>A	c.(2095-2097)AGA>AAA	p.R699K	ACO1_uc010mjh.1_Missense_Mutation_p.R533K|ACO1_uc003zqx.3_Missense_Mutation_p.R699K|ACO1_uc003zqy.3_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	699		Substrate (By similarity).		R->K: No effect on RNA binding.	citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)										0.053191	-9.305948	10.507786	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32434696	32434696	147	9	G	A	A	A	429	33	ACO1	2	2
PAX5	5079	broad.mit.edu	37	9	36846921	36846921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36846921C>A	uc003zzo.1	-	c.1018G>T	c.(1018-1020)GAG>TAG	p.E340*	PAX5_uc011lpt.1_Nonsense_Mutation_p.E136*|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Nonsense_Mutation_p.E240*|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Nonsense_Mutation_p.E297*|PAX5_uc011lqa.1_Nonsense_Mutation_p.E232*|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Nonsense_Mutation_p.E306*|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.V262V	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	340					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.125	4.309107	7.60542	3	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36846921	36846921	11902	9	C	A	A	A	377	29	PAX5	5	2
TRPM3	80036	broad.mit.edu	37	9	73151377	73151377	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:73151377A>T	uc004aid.2	-	c.4616T>A	c.(4615-4617)GTA>GAA	p.V1539E	TRPM3_uc004ahu.2_Missense_Mutation_p.V1381E|TRPM3_uc004ahv.2_Missense_Mutation_p.V1341E|TRPM3_uc004ahw.2_Missense_Mutation_p.V1411E|TRPM3_uc004ahx.2_Missense_Mutation_p.V1398E|TRPM3_uc004ahy.2_Missense_Mutation_p.V1401E|TRPM3_uc004ahz.2_Missense_Mutation_p.V1388E|TRPM3_uc004aia.2_Missense_Mutation_p.V1386E|TRPM3_uc004aib.2_Missense_Mutation_p.V1376E|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1564	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.094595	3.777085	15.985715	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73151377	73151377	17138	9	A	T	T	T	182	14	TRPM3	3	3
NXF3	56000	broad.mit.edu	37	X	102335100	102335100	+	Silent	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102335100G>A	uc004eju.2	-	c.972C>T	c.(970-972)GCC>GCT	p.A324A	NXF3_uc010noi.1_Silent_p.A174A	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	324						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.154676	82.460516	114.127682	43	235	KEEP	---	---	---	---	capture		Silent	SNP	102335100	102335100	11190	23	G	A	A	A	548	43	NXF3	2	2
GLRA4	441509	broad.mit.edu	37	X	102962325	102962325	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102962325G>A	uc011mse.1	-	c.1201C>T	c.(1201-1203)CCA>TCA	p.P401S		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	401	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0														0.058824	-7.087761	10.234049	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102962325	102962325	6725	23	G	A	A	A	533	41	GLRA4	2	2
COL4A5	1287	broad.mit.edu	37	X	107911647	107911647	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107911647G>T	uc004enz.1	+	c.3703G>T	c.(3703-3705)GGT>TGT	p.G1235C	COL4A5_uc011mso.1_Missense_Mutation_p.G1235C	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1235	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.088235	1.097892	6.927149	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107911647	107911647	3832	23	G	T	T	T	559	43	COL4A5	2	2
ALG13	79868	broad.mit.edu	37	X	110988105	110988105	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110988105G>C	uc011msy.1	+	c.2905G>C	c.(2905-2907)GAT>CAT	p.D969H	ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Missense_Mutation_p.D891H|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron	ALG13		Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	969	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1														0.075	0.091517	7.505101	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110988105	110988105	518	23	G	C	C	C	585	45	ALG13	3	3
TRPC5	7224	broad.mit.edu	37	X	111095552	111095552	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111095552A>T	uc004epl.1	-	c.1351T>A	c.(1351-1353)TCC>ACC	p.S451T	TRPC5_uc004epm.1_Missense_Mutation_p.S451T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	451	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.072464	-2.878923	10.102496	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111095552	111095552	17133	23	A	T	T	T	117	9	TRPC5	3	3
GLUD2	2747	broad.mit.edu	37	X	120182570	120182570	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:120182570C>A	uc004eto.2	+	c.1032C>A	c.(1030-1032)GAC>GAA	p.D344E		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	344					glutamate biosynthetic process|glutamate catabolic process|oxidation-reduction process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.137931	21.786294	36.473159	16	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120182570	120182570	6745	23	C	A	A	A	233	18	GLUD2	2	2
ODZ1	10178	broad.mit.edu	37	X	123519887	123519887	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123519887G>T	uc010nqy.2	-	c.5716C>A	c.(5716-5718)CGG>AGG	p.R1906R	ODZ1_uc011muj.1_Silent_p.R1905R|ODZ1_uc004euj.2_Silent_p.R1899R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1899	YD 8.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.142857	17.876878	27.338727	11	66	KEEP	---	---	---	---	capture		Silent	SNP	123519887	123519887	11239	23	G	T	T	T	493	38	ODZ1	1	1
SAGE1	55511	broad.mit.edu	37	X	134990727	134990727	+	Silent	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134990727T>A	uc004ezh.2	+	c.1392T>A	c.(1390-1392)CTT>CTA	p.L464L	SAGE1_uc010nry.1_Silent_p.L433L|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	464										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.148649	19.279253	28.042871	11	63	KEEP	---	---	---	---	capture		Silent	SNP	134990727	134990727	14289	23	T	A	A	A	782	61	SAGE1	3	3
EGFL6	25975	broad.mit.edu	37	X	13645150	13645150	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13645150G>T	uc004cvj.2	+	c.1309G>T	c.(1309-1311)GTT>TTT	p.V437F	EGFL6_uc004cvi.2_Missense_Mutation_p.V436F	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	436	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2														0.12963	11.887283	19.096538	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13645150	13645150	5152	23	G	T	T	T	468	36	EGFL6	2	2
SPANXN4	441525	broad.mit.edu	37	X	142113847	142113848	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142113847_142113848CC>AG	uc004fbv.3	+	c.47_48CC>AG	c.(46-48)CCC>CAG	p.P16Q		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	16										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.111111	6.445136	13.170233	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	142113847	142113848	15501	23	CC	AG	AG	AG	286	22	SPANXN4	2	2
UBE2NL	389898	broad.mit.edu	37	X	142967318	142967318	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142967318T>A	uc004fca.2	+	c.116T>A	c.(115-117)ATT>AAT	p.I39N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	39					post-translational protein modification		acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.196581	49.16264	59.196146	23	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142967318	142967318	17424	23	T	A	A	A	676	52	UBE2NL	3	3
MAGEA4	4103	broad.mit.edu	37	X	151092880	151092880	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151092880C>A	uc004fez.2	+	c.744C>A	c.(742-744)ACC>ACA	p.T248T	MAGEA4_uc004ffa.2_Silent_p.T248T|MAGEA4_uc004ffb.2_Silent_p.T248T|MAGEA4_uc004ffc.2_Silent_p.T248T|MAGEA4_uc004ffd.2_Silent_p.T248T	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	248	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.083333	0.343743	6.653806	3	33	KEEP	---	---	---	---	capture		Silent	SNP	151092880	151092880	9547	23	C	A	A	A	275	22	MAGEA4	2	2
PNCK	139728	broad.mit.edu	37	X	152937446	152937446	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152937446G>T	uc011myu.1	-	c.552C>A	c.(550-552)CGC>CGA	p.R184R	PNCK_uc011myt.1_Silent_p.R118R|PNCK_uc004fia.2_Silent_p.R113R|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Silent_p.R128R|PNCK_uc011myw.1_Silent_p.R128R	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	101	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									91				0.108696	5.340903	12.319808	5	41	KEEP	---	---	---	---	capture		Silent	SNP	152937446	152937446	12571	23	G	T	T	T	587	46	PNCK	2	2
HCFC1	3054	broad.mit.edu	37	X	153230086	153230086	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153230086C>A	uc004fjp.2	-	c.285G>T	c.(283-285)CTG>CTT	p.L95L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	95	Kelch 2.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.097087	6.974073	23.724006	10	93	KEEP	---	---	---	---	capture		Silent	SNP	153230086	153230086	7273	23	C	A	A	A	262	21	HCFC1	2	2
GAB3	139716	broad.mit.edu	37	X	153925479	153925479	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153925479G>A	uc004fmk.1	-	c.1355C>T	c.(1354-1356)CCT>CTT	p.P452L	GAB3_uc004fmj.1_Missense_Mutation_p.P451L|GAB3_uc010nve.1_Missense_Mutation_p.P452L|GAB3_uc004fml.1_Missense_Mutation_p.P71L	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 1	451										ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.068966	-3.013053	13.685856	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153925479	153925479	6401	23	G	A	A	A	455	35	GAB3	2	2
CNKSR2	22866	broad.mit.edu	37	X	21627328	21627328	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21627328C>A	uc004czx.1	+	c.2285C>A	c.(2284-2286)GCC>GAC	p.A762D	CNKSR2_uc004czw.2_Missense_Mutation_p.A762D|CNKSR2_uc011mjn.1_Missense_Mutation_p.A713D|CNKSR2_uc011mjo.1_Missense_Mutation_p.A732D|CNKSR2_uc004czy.2_Missense_Mutation_p.A354D	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	762					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.112903	6.781684	15.951995	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21627328	21627328	3745	23	C	A	A	A	338	26	CNKSR2	2	2
PHEX	5251	broad.mit.edu	37	X	22117197	22117197	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:22117197C>T	uc004dah.2	+	c.1007C>T	c.(1006-1008)TCC>TTC	p.S336F	PHEX_uc011mjr.1_Missense_Mutation_p.S336F|PHEX_uc011mjs.1_Missense_Mutation_p.S239F	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	336	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.178808	54.689157	69.307195	27	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22117197	22117197	12242	23	C	T	T	T	390	30	PHEX	2	2
FAM47B	170062	broad.mit.edu	37	X	34961740	34961740	+	Silent	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961740C>A	uc004ddi.1	+	c.792C>A	c.(790-792)CCC>CCA	p.P264P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	264	Pro-rich.									ovary(3)|breast(1)	4														0.087912	2.430062	18.058435	8	83	KEEP	---	---	---	---	capture		Silent	SNP	34961740	34961740	5791	23	C	A	A	A	262	21	FAM47B	2	2
SYN1	6853	broad.mit.edu	37	X	47466579	47466579	+	Silent	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47466579C>T	uc004die.2	-	c.396G>A	c.(394-396)GGG>GGA	p.G132G	SYN1_uc004did.2_Silent_p.G132G	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	132	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1														0.074074	-1.542629	8.51998	4	50	KEEP	---	---	---	---	capture		Silent	SNP	47466579	47466579	15961	23	C	T	T	T	379	30	SYN1	2	2
SHROOM4	57477	broad.mit.edu	37	X	50378103	50378103	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50378103T>C	uc004dpe.2	-	c.970A>G	c.(970-972)AGG>GGG	p.R324G	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.R208G	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	324					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.069767	-0.408227	7.807297	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50378103	50378103	14791	23	T	C	C	C	687	53	SHROOM4	4	4
ZXDA	7789	broad.mit.edu	37	X	57934639	57934639	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:57934639A>T	uc004dve.2	-	c.2216T>A	c.(2215-2217)CTT>CAT	p.L739H		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	739					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.114286	4.174073	9.308621	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57934639	57934639	18855	23	A	T	T	T	39	3	ZXDA	3	3
FAM123B	139285	broad.mit.edu	37	X	63412038	63412038	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63412038C>T	uc004dvo.2	-	c.1129G>A	c.(1129-1131)GAT>AAT	p.D377N		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	377	Glu-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.146893	42.626717	63.841105	26	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63412038	63412038	5620	23	C	T	T	T	377	29	FAM123B	2	2
KIF4A	24137	broad.mit.edu	37	X	69595967	69595967	+	Silent	SNP	G	T	T			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69595967G>T	uc004dyg.2	+	c.1941G>T	c.(1939-1941)CGG>CGT	p.R647R	KIF4A_uc010nkw.2_Silent_p.R647R|KIF4A_uc004dyf.1_Silent_p.R647R	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	647	Potential.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.192308	20.218506	24.817767	10	42	KEEP	---	---	---	---	capture		Silent	SNP	69595967	69595967	8614	23	G	T	T	T	548	43	KIF4A	2	2
TAF1	6872	broad.mit.edu	37	X	70602999	70602999	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70602999C>G	uc004dzt.3	+	c.1992C>G	c.(1990-1992)ATC>ATG	p.I664M	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.3_Missense_Mutation_p.I643M	NM_004606	NP_004597	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 1	643					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|response to DNA damage stimulus|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	15	Renal(35;0.156)	all_lung(315;0.000321)								472				0.125	11.582971	19.279391	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70602999	70602999	16034	23	C	G	G	G	369	29	TAF1	3	3
UPRT	139596	broad.mit.edu	37	X	74513312	74513312	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74513312C>A	uc004ecb.1	+	c.392C>A	c.(391-393)GCC>GAC	p.A131D	UPRT_uc010nlu.1_Missense_Mutation_p.A131D|UPRT_uc004ecc.1_Non-coding_Transcript|UPRT_uc004ecd.1_Missense_Mutation_p.A131D|UPRT_uc004ece.1_5'UTR	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	131					nucleoside metabolic process	cytoplasm|nucleus					0														0.050633	-8.968837	7.940148	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74513312	74513312	17575	23	C	A	A	A	338	26	UPRT	2	2
ZNF711	7552	broad.mit.edu	37	X	84526774	84526774	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84526774C>A	uc004eeq.2	+	c.2364C>A	c.(2362-2364)TTC>TTA	p.F788L	ZNF711_uc004eeo.2_Missense_Mutation_p.F742L|ZNF711_uc004eep.2_Missense_Mutation_p.F742L|ZNF711_uc011mqy.1_Missense_Mutation_p.F341L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	742	C2H2-type 12.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.169231	20.08826	26.818037	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84526774	84526774	18712	23	C	A	A	A	389	30	ZNF711	2	2
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052285_140052285delT	uc003lgt.2	-	c.349_349delA	c.(349-351)ACGfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.33			4	8		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140052285	140052285	4849	5	T	-	-	-	767	59	DND1	5	5
GPC2	221914	broad.mit.edu	37	7	99769524	99769525	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99769524_99769525insG	uc003utv.2	-	c.1047_1048insC	c.(1045-1050)CCCGACfs	p.P349fs	GPC2_uc010lgr.2_Non-coding_Transcript	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	349_350						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	99769524	99769525	6872	7	-	G	G	G	403	31	GPC2	5	5
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z033-01	TCGA-17-Z033-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67943519_67943520insC	uc004dxb.2	+	c.2851_2852insC	c.(2851-2853)GCCfs	p.A951fs	STARD8_uc004dxa.2_Frame_Shift_Ins_p.A871fs|STARD8_uc004dxc.3_Frame_Shift_Ins_p.A871fs	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	871	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	67943519	67943520	15782	23	-	C	C	C	442	34	STARD8	5	5
