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
HPS6	79803	broad.mit.edu	37	10	103826164	103826164	+	Silent	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103826164G>C	uc001kuj.2	+	c.933G>C	c.(931-933)CCG>CCC	p.P311P		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	311						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										0.322222	96.759239	99.276768	29	61	KEEP	---	---	---	---	capture		Silent	SNP	103826164	103826164	7635	10	G	C	C	C	509	40	HPS6	3	3
HPS6	79803	broad.mit.edu	37	10	103826182	103826182	+	Silent	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103826182A>G	uc001kuj.2	+	c.951A>G	c.(949-951)CTA>CTG	p.L317L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	317						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										0.306306	110.419787	114.127306	34	77	KEEP	---	---	---	---	capture		Silent	SNP	103826182	103826182	7635	10	A	G	G	G	184	15	HPS6	4	4
UPF2	26019	broad.mit.edu	37	10	11978664	11978664	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11978664A>C	uc001ila.2	-	c.3426T>G	c.(3424-3426)ATT>ATG	p.I1142M	UPF2_uc001ilb.2_Missense_Mutation_p.I1142M|UPF2_uc001ilc.2_Missense_Mutation_p.I1142M	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1142	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)												0.3125	105.231416	108.226806	30	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11978664	11978664	17564	10	A	C	C	C	112	9	UPF2	4	4
PLXDC2	84898	broad.mit.edu	37	10	20290768	20290768	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:20290768C>A	uc001iqg.1	+	c.177C>A	c.(175-177)CAC>CAA	p.H59Q	PLXDC2_uc001iqh.1_Missense_Mutation_p.H59Q	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	59	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.112903	6.884178	16.061763	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20290768	20290768	12544	10	C	A	A	A	246	19	PLXDC2	1	1
GPR158	57512	broad.mit.edu	37	10	25886786	25886786	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25886786G>A	uc001isj.2	+	c.2231G>A	c.(2230-2232)CGG>CAG	p.R744Q	GPR158_uc001isk.2_Missense_Mutation_p.R119Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	744	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.110599	27.840778	60.386852	24	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25886786	25886786	6938	10	G	A	A	A	507	39	GPR158	1	1
ANKRD30A	91074	broad.mit.edu	37	10	37488665	37488665	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37488665C>A	uc001iza.1	+	c.2559C>A	c.(2557-2559)TTC>TTA	p.F853L		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	909					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.333333	10.295012	10.590714	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37488665	37488665	663	10	C	A	A	A	389	30	ANKRD30A	2	2
KLF6	1316	broad.mit.edu	37	10	3821782	3821782	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:3821782C>T	uc001iha.2	-	c.801G>A	c.(799-801)AGG>AGA	p.R267R	KLF6_uc010qaj.1_Missense_Mutation_p.G226D|KLF6_uc010qak.1_Non-coding_Transcript|KLF6_uc010qal.1_Silent_p.R225R	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	267	C2H2-type 3.				B cell differentiation	nucleus	transcription activator activity|zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)						257				0.15873	17.415085	24.404075	10	53	KEEP	---	---	---	---	capture		Silent	SNP	3821782	3821782	8662	10	C	T	T	T	234	18	KLF6	2	2
RBP3	5949	broad.mit.edu	37	10	48381910	48381910	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48381910G>A	uc001jez.2	-	c.3739C>T	c.(3739-3741)CTG>TTG	p.L1247L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1247					lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.233333	16.103616	18.063222	7	23	KEEP	---	---	---	---	capture		Silent	SNP	48381910	48381910	13626	10	G	A	A	A	451	35	RBP3	2	2
CHAT	1103	broad.mit.edu	37	10	50863273	50863273	+	Silent	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50863273T>A	uc001jhz.2	+	c.1767T>A	c.(1765-1767)GCT>GCA	p.A589A	CHAT_uc001jhv.1_Silent_p.A471A|CHAT_uc001jhx.1_Silent_p.A471A|CHAT_uc001jhy.1_Silent_p.A471A|CHAT_uc001jia.2_Silent_p.A471A|CHAT_uc010qgs.1_Silent_p.A471A	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	589					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)									0.295918	75.249972	78.893652	29	69	KEEP	---	---	---	---	capture		Silent	SNP	50863273	50863273	3447	10	T	A	A	A	704	55	CHAT	3	3
OGDHL	55753	broad.mit.edu	37	10	50964932	50964932	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50964932G>T	uc009xog.2	-	c.346C>A	c.(346-348)CGG>AGG	p.R116R	OGDHL_uc001jie.2_Silent_p.R89R|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	89					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.264286	106.014579	113.044092	37	103	KEEP	---	---	---	---	capture		Silent	SNP	50964932	50964932	11245	10	G	T	T	T	519	40	OGDHL	1	1
PFKFB3	5209	broad.mit.edu	37	10	6262674	6262674	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6262674G>T	uc010qaw.1	+	c.719G>T	c.(718-720)CGG>CTG	p.R240L	PFKFB3_uc001ijd.2_Missense_Mutation_p.R206L|PFKFB3_uc009xii.2_Non-coding_Transcript|PFKFB3_uc001ije.2_Missense_Mutation_p.R226L|PFKFB3_uc001ijf.2_Missense_Mutation_p.R226L	NM_001145443	NP_001138915	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	226	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3														0.261364	111.726409	120.83949	46	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6262674	6262674	12184	10	G	T	T	T	507	39	PFKFB3	1	1
KIAA0913	23053	broad.mit.edu	37	10	75557714	75557714	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75557714C>T	uc001jve.2	+	c.3838C>T	c.(3838-3840)CGC>TGC	p.R1280C	KIAA0913_uc009xrl.2_Missense_Mutation_p.R1275C|KIAA0913_uc001jvf.2_Missense_Mutation_p.R1275C|KIAA0913_uc001jvh.2_Non-coding_Transcript|KIAA0913_uc001jvi.2_Missense_Mutation_p.R710C|KIAA0913_uc010qkr.1_Missense_Mutation_p.R698C|KIAA0913_uc001jvj.2_Missense_Mutation_p.R698C|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1275							zinc ion binding			breast(1)	1	Prostate(51;0.0112)													0.092857	3.947231	27.377201	13	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75557714	75557714	8507	10	C	T	T	T	299	23	KIAA0913	1	1
POLR3A	11128	broad.mit.edu	37	10	79773475	79773475	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79773475C>A	uc001jzn.2	-	c.1505G>T	c.(1504-1506)GGT>GTT	p.G502V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	502					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.157303	47.003197	66.933399	28	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79773475	79773475	12656	10	C	A	A	A	234	18	POLR3A	2	2
AGAP11	119385	broad.mit.edu	37	10	88769446	88769446	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88769446G>A	uc001kee.2	+	c.1437G>A	c.(1435-1437)GTG>GTA	p.V479V	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	479					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0														0.343066	122.550447	125.500118	47	90	KEEP	---	---	---	---	capture		Silent	SNP	88769446	88769446	369	10	G	A	A	A	574	45	AGAP11	2	2
TLL2	7093	broad.mit.edu	37	10	98146791	98146791	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98146791G>T	uc001kml.1	-	c.1771C>A	c.(1771-1773)CGC>AGC	p.R591S		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)										0.357143	70.652947	71.912299	25	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98146791	98146791	16476	10	G	T	T	T	481	37	TLL2	1	1
SLIT1	6585	broad.mit.edu	37	10	98766421	98766421	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98766421C>A	uc001kmw.2	-	c.3398G>T	c.(3397-3399)GGG>GTG	p.G1133V		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1133	EGF-like 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.489362	64.817918	64.822681	23	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98766421	98766421	15237	10	C	A	A	A	286	22	SLIT1	2	2
PDGFD	80310	broad.mit.edu	37	11	103814199	103814199	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103814199G>A	uc001phq.2	-	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	PDGFD_uc001php.2_Silent_p.Y245Y	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	251					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)										0.133333	5.778708	9.694167	4	26	KEEP	---	---	---	---	capture		Silent	SNP	103814199	103814199	12081	11	G	A	A	A	568	44	PDGFD	2	2
GRIA4	2893	broad.mit.edu	37	11	105732855	105732855	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105732855T>C	uc001pix.2	+	c.593T>C	c.(592-594)CTA>CCA	p.L198P	GRIA4_uc001piu.1_Missense_Mutation_p.L198P|GRIA4_uc001piw.2_Missense_Mutation_p.L198P|GRIA4_uc001piv.2_Missense_Mutation_p.L198P|GRIA4_uc009yxk.1_Missense_Mutation_p.L198P	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	198	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)									0.285714	82.971064	86.428383	24	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105732855	105732855	7048	11	T	C	C	C	689	53	GRIA4	4	4
FAM55D	54827	broad.mit.edu	37	11	114441716	114441716	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114441716G>T	uc001ppc.2	-	c.1579C>A	c.(1579-1581)CCA>ACA	p.P527T	FAM55D_uc001ppd.2_Missense_Mutation_p.P243T	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	527						extracellular region				ovary(2)	2		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)										0.204082	21.520201	25.504585	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114441716	114441716	5809	11	G	T	T	T	559	43	FAM55D	2	2
TRIM29	23650	broad.mit.edu	37	11	119996524	119996524	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119996524T>A	uc001pwz.2	-	c.1208A>T	c.(1207-1209)GAG>GTG	p.E403V	TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.E142V|TRIM29_uc010rzj.1_Missense_Mutation_p.E136V|TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	403					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.173913	34.528341	46.078104	20	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119996524	119996524	17047	11	T	A	A	A	702	54	TRIM29	3	3
TECTA	7007	broad.mit.edu	37	11	121008270	121008270	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121008270A>T	uc010rzo.1	+	c.3082A>T	c.(3082-3084)AGC>TGC	p.S1028C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1028	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.292453	81.081496	85.171103	31	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121008270	121008270	16274	11	A	T	T	T	91	7	TECTA	3	3
ROBO3	64221	broad.mit.edu	37	11	124742335	124742335	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124742335G>T	uc001qbc.2	+	c.1217G>T	c.(1216-1218)AGA>ATA	p.R406I		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	406	Ig-like C2-type 4.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.370968	121.207665	123.025365	46	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124742335	124742335	13994	11	G	T	T	T	429	33	ROBO3	2	2
VPS26B	112936	broad.mit.edu	37	11	134095109	134095109	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134095109C>T	uc001qhe.2	+	c.93C>T	c.(91-93)GAC>GAT	p.D31D	NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	31					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		Colon(171;1263 1952 15904 45703 47982)								0.158333	29.339485	42.707057	19	101	KEEP	---	---	---	---	capture		Silent	SNP	134095109	134095109	17765	11	C	T	T	T	246	19	VPS26B	1	1
ACAD8	27034	broad.mit.edu	37	11	134131236	134131236	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134131236G>C	uc001qhk.2	+	c.909G>C	c.(907-909)AAG>AAC	p.K303N	ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.1_Missense_Mutation_p.K226N|ACAD8_uc001qhl.2_Missense_Mutation_p.K176N	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	303					branched chain family amino acid catabolic process|lipid metabolic process|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GBM(65;238 1125 33403 41853 48889)								0.101124	10.704565	24.838542	9	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134131236	134131236	111	11	G	C	C	C	438	34	ACAD8	3	3
GLB1L2	89944	broad.mit.edu	37	11	134217327	134217327	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134217327G>A	uc001qhp.2	+	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	186					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)	2	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)										0.062914	-13.717839	46.366201	19	283	KEEP	---	---	---	---	capture		Silent	SNP	134217327	134217327	6697	11	G	A	A	A	451	35	GLB1L2	2	2
DEPDC7	91614	broad.mit.edu	37	11	33047270	33047270	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33047270C>G	uc001mub.2	+	c.139C>G	c.(139-141)CAA>GAA	p.Q47E	DEPDC7_uc010reg.1_Missense_Mutation_p.Q47E|DEPDC7_uc010reh.1_Missense_Mutation_p.Q47E|DEPDC7_uc001muc.2_Missense_Mutation_p.Q38E	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	47	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1														0.369048	226.907668	229.439571	62	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33047270	33047270	4623	11	C	G	G	G	377	29	DEPDC7	3	3
OR4C13	283092	broad.mit.edu	37	11	49974153	49974153	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974153T>C	uc010rhz.1	+	c.179T>C	c.(178-180)TTC>TCC	p.F60S		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.128205	59.016796	90.505978	30	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49974153	49974153	11453	11	T	C	C	C	806	62	OR4C13	4	4
HBE1	3046	broad.mit.edu	37	11	5290732	5290732	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5290732C>T	uc001mal.1	-	c.267G>A	c.(265-267)CTG>CTA	p.L89L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L89L	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	89					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.275862	78.819417	84.089989	32	84	KEEP	---	---	---	---	capture		Silent	SNP	5290732	5290732	7262	11	C	T	T	T	366	29	HBE1	2	2
TRIM48	79097	broad.mit.edu	37	11	55036743	55036743	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55036743C>A	uc010rid.1	+	c.604C>A	c.(604-606)CCC>ACC	p.P202T		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	186						intracellular	zinc ion binding				0														0.166667	15.139412	20.834393	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55036743	55036743	17068	11	C	A	A	A	338	26	TRIM48	2	2
UBQLN3	50613	broad.mit.edu	37	11	5530631	5530631	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5530631C>T	uc001may.1	-	c.158G>A	c.(157-159)CGC>CAC	p.R53H	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.338983	164.740048	168.800147	60	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5530631	5530631	17456	11	C	T	T	T	351	27	UBQLN3	1	1
OR4S2	219431	broad.mit.edu	37	11	55418741	55418741	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55418741A>T	uc001nhs.1	+	c.362A>T	c.(361-363)TAT>TTT	p.Y121F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.216216	138.680732	157.906872	56	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55418741	55418741	11493	11	A	T	T	T	208	16	OR4S2	3	3
OR5L1	219437	broad.mit.edu	37	11	55579095	55579095	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579095C>A	uc001nhw.1	+	c.153C>A	c.(151-153)GTC>GTA	p.V51V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.27451	204.844725	218.87556	84	222	KEEP	---	---	---	---	capture		Silent	SNP	55579095	55579095	11580	11	C	A	A	A	366	29	OR5L1	2	2
OR8H2	390151	broad.mit.edu	37	11	55872729	55872729	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55872729G>T	uc010riy.1	+	c.211G>T	c.(211-213)GAC>TAC	p.D71Y		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.21308	219.884811	255.968426	101	373	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55872729	55872729	11649	11	G	T	T	T	585	45	OR8H2	2	2
OR8H2	390151	broad.mit.edu	37	11	55873168	55873168	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55873168C>A	uc010riy.1	+	c.650C>A	c.(649-651)TCC>TAC	p.S217Y		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.267045	112.233144	120.868906	47	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55873168	55873168	11649	11	C	A	A	A	390	30	OR8H2	2	2
OR8H3	390152	broad.mit.edu	37	11	55890059	55890059	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55890059G>T	uc001nii.1	+	c.211G>T	c.(211-213)GAC>TAC	p.D71Y		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.052023	-65.21492	45.485252	27	492	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55890059	55890059	11650	11	G	T	T	T	585	45	OR8H3	2	2
OR1S2	219958	broad.mit.edu	37	11	57971146	57971146	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57971146G>T	uc010rkb.1	-	c.508C>A	c.(508-510)CTT>ATT	p.L170I		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	170	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.121771	33.567664	71.572345	33	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57971146	57971146	11379	11	G	T	T	T	429	33	OR1S2	2	2
OR5B3	441608	broad.mit.edu	37	11	58169967	58169967	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58169967C>A	uc010rkf.1	-	c.916G>T	c.(916-918)GCA>TCA	p.A306S		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.116505	13.821809	28.731448	12	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58169967	58169967	11562	11	C	A	A	A	338	26	OR5B3	2	2
OR5A2	219981	broad.mit.edu	37	11	59189984	59189984	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59189984C>G	uc010rkt.1	-	c.443G>C	c.(442-444)GGC>GCC	p.G148A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.266667	64.366845	68.054186	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59189984	59189984	11550	11	C	G	G	G	338	26	OR5A2	3	3
AHNAK	79026	broad.mit.edu	37	11	62297219	62297219	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62297219G>C	uc001ntl.2	-	c.4670C>G	c.(4669-4671)GCT>GGT	p.A1557G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1557					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.261719	203.996394	217.158543	67	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62297219	62297219	417	11	G	C	C	C	442	34	AHNAK	3	3
CCDC88B	283234	broad.mit.edu	37	11	64111949	64111949	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64111949C>T	uc001nzy.2	+	c.1936C>T	c.(1936-1938)CCT>TCT	p.P646S	CCDC88B_uc009ypo.1_Missense_Mutation_p.P643S|CCDC88B_uc001nzz.1_Missense_Mutation_p.P295S	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	646					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)	3														0.277778	26.0434	27.637573	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64111949	64111949	2989	11	C	T	T	T	286	22	CCDC88B	2	2
NRXN2	9379	broad.mit.edu	37	11	64428366	64428366	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64428366C>T	uc001oar.2	-	c.2044G>A	c.(2044-2046)GTT>ATT	p.V682I	NRXN2_uc001oas.2_Missense_Mutation_p.V651I|NRXN2_uc001oaq.2_Missense_Mutation_p.V349I	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.2625	47.629383	51.721391	21	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64428366	64428366	11071	11	C	T	T	T	247	19	NRXN2	1	1
PYGM	5837	broad.mit.edu	37	11	64519396	64519396	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64519396G>T	uc001oax.3	-	c.1768C>A	c.(1768-1770)CGC>AGC	p.R590S	PYGM_uc001oay.3_Missense_Mutation_p.R502S	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	590					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.194444	16.274071	19.356525	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64519396	64519396	13320	11	G	T	T	T	507	39	PYGM	1	1
SPTBN2	6712	broad.mit.edu	37	11	66475714	66475714	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66475714C>T	uc001ojd.2	-	c.1248G>A	c.(1246-1248)GAG>GAA	p.E416E		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	416					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.285714	36.098076	38.140999	14	35	KEEP	---	---	---	---	capture		Silent	SNP	66475714	66475714	15634	11	C	T	T	T	363	28	SPTBN2	2	2
CAPN5	726	broad.mit.edu	37	11	76834862	76834862	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76834862G>A	uc009yup.2	+	c.1989G>A	c.(1987-1989)CTG>CTA	p.L663L	CAPN5_uc001oxx.2_Silent_p.L623L|CAPN5_uc009yuq.2_Silent_p.L659L|CAPN5_uc001oxy.2_Silent_p.L663L|CAPN5_uc001oya.2_Silent_p.L185L	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	623					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0														0.222222	55.574752	64.588522	28	98	KEEP	---	---	---	---	capture		Silent	SNP	76834862	76834862	2747	11	G	A	A	A	587	46	CAPN5	2	2
MYO7A	4647	broad.mit.edu	37	11	76900500	76900500	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76900500C>T	uc001oyb.2	+	c.3615C>T	c.(3613-3615)TCC>TCT	p.S1205S	MYO7A_uc010rsm.1_Silent_p.S1194S|MYO7A_uc001oyc.2_Silent_p.S1205S|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.S416S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1205	MyTH4 1.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.054422	-13.326322	17.434864	8	139	KEEP	---	---	---	---	capture		Silent	SNP	76900500	76900500	10477	11	C	T	T	T	288	23	MYO7A	1	1
OR10A3	26496	broad.mit.edu	37	11	7960723	7960723	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7960723C>T	uc010rbi.1	-	c.345G>A	c.(343-345)CTG>CTA	p.L115L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.373239	153.934261	155.940002	53	89	KEEP	---	---	---	---	capture		Silent	SNP	7960723	7960723	11297	11	C	T	T	T	262	21	OR10A3	2	2
STAB2	55576	broad.mit.edu	37	12	104099502	104099502	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104099502C>T	uc001tjw.2	+	c.3993C>T	c.(3991-3993)GTC>GTT	p.V1331V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1331	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.313953	67.883794	70.538518	27	59	KEEP	---	---	---	---	capture		Silent	SNP	104099502	104099502	15756	12	C	T	T	T	366	29	STAB2	2	2
APPL2	55198	broad.mit.edu	37	12	105589110	105589110	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105589110C>G	uc010swu.1	-	c.1188G>C	c.(1186-1188)TTG>TTC	p.L396F	APPL2_uc010swt.1_Missense_Mutation_p.L347F|APPL2_uc001tlf.1_Missense_Mutation_p.L390F|APPL2_uc001tlg.1_Missense_Mutation_p.L144F|APPL2_uc009zuq.2_Missense_Mutation_p.L347F	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	390	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding				0														0.4	86.587213	87.112311	24	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105589110	105589110	829	12	C	G	G	G	376	29	APPL2	3	3
RFX4	5992	broad.mit.edu	37	12	107114570	107114570	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107114570G>A	uc001tlt.2	+	c.1294G>A	c.(1294-1296)GTG>ATG	p.V432M	RFX4_uc001tlr.2_Missense_Mutation_p.V423M|RFX4_uc001tls.2_Missense_Mutation_p.V432M|RFX4_uc001tlv.2_Missense_Mutation_p.V329M	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	423	Necessary for dimerization.			V -> E (in Ref. 4; BAC11288).	transcription, DNA-dependent	nucleus	DNA binding				0														0.43	130.105316	130.533274	43	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107114570	107114570	13737	12	G	A	A	A	468	36	RFX4	2	2
TBX3	6926	broad.mit.edu	37	12	115120648	115120648	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115120648C>A	uc001tvt.1	-	c.358G>T	c.(358-360)GGC>TGC	p.G120C	TBX3_uc001tvu.1_Missense_Mutation_p.G120C|TBX3_uc010syw.1_Missense_Mutation_p.G120C	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	120	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	general transcriptional repressor activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)	2	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)										0.180328	18.983175	24.853325	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115120648	115120648	16185	12	C	A	A	A	286	22	TBX3	2	2
KNTC1	9735	broad.mit.edu	37	12	123089424	123089424	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123089424G>T	uc001ucv.2	+	c.5176G>T	c.(5176-5178)GAC>TAC	p.D1726Y	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1726					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.352941	15.142197	15.467543	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123089424	123089424	8742	12	G	T	T	T	533	41	KNTC1	2	2
NOC4L	79050	broad.mit.edu	37	12	132636667	132636668	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132636667_132636668CG>TT	uc001ujz.1	+	c.1356_1357CG>TT	c.(1354-1359)GCCGCC>GCTTCC	p.A453S		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	453					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)										0.416667	46.321188	46.53873	15	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	132636667	132636668	10918	12	CG	TT	TT	TT	288	23	NOC4L	1	1
CACNA1C	775	broad.mit.edu	37	12	2666138	2666138	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2666138G>T	uc009zdu.1	+	c.1503G>T	c.(1501-1503)AAG>AAT	p.K501N	CACNA1C_uc009zdv.1_Missense_Mutation_p.K498N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K501N|CACNA1C_uc001qke.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K501N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K501N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K501N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K501N|CACNA1C_uc001qko.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K501N|CACNA1C_uc001qku.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K501N|CACNA1C_uc001qks.2_Missense_Mutation_p.K501N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K501N|CACNA1C_uc001qka.1_Missense_Mutation_p.K36N|CACNA1C_uc001qki.1_Missense_Mutation_p.K237N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K237N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K237N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K237N|CACNA1C_uc009zdy.1_Missense_Mutation_p.K166N|CACNA1C_uc001qkv.1_Missense_Mutation_p.K71N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	501	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.336538	102.796803	105.253098	35	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2666138	2666138	2656	12	G	T	T	T	464	36	CACNA1C	2	2
CACNA1C	775	broad.mit.edu	37	12	2788840	2788840	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2788840C>A	uc009zdu.1	+	c.5466C>A	c.(5464-5466)GCC>GCA	p.A1822A	CACNA1C_uc009zdv.1_Silent_p.A1771A|CACNA1C_uc001qkb.2_Silent_p.A1774A|CACNA1C_uc001qkc.2_Silent_p.A1793A|CACNA1C_uc001qke.2_Silent_p.A1763A|CACNA1C_uc001qkf.2_Silent_p.A1782A|CACNA1C_uc001qjz.2_Silent_p.A1774A|CACNA1C_uc001qkd.2_Silent_p.A1793A|CACNA1C_uc001qkg.2_Silent_p.A1780A|CACNA1C_uc009zdw.1_Silent_p.A1815A|CACNA1C_uc001qkh.2_Silent_p.A1782A|CACNA1C_uc001qkl.2_Silent_p.A1822A|CACNA1C_uc001qkn.2_Silent_p.A1774A|CACNA1C_uc001qko.2_Silent_p.A1794A|CACNA1C_uc001qkp.2_Silent_p.A1774A|CACNA1C_uc001qkr.2_Silent_p.A1791A|CACNA1C_uc001qku.2_Silent_p.A1774A|CACNA1C_uc001qkq.2_Silent_p.A1802A|CACNA1C_uc001qks.2_Silent_p.A1774A|CACNA1C_uc001qkt.2_Silent_p.A1793A|CACNA1C_uc001qki.1_Silent_p.A1510A|CACNA1C_uc001qkj.1_Silent_p.A1510A|CACNA1C_uc001qkk.1_Silent_p.A1510A|CACNA1C_uc001qkm.1_Silent_p.A1499A|CACNA1C_uc010sea.1_Silent_p.A465A|CACNA1C_uc001qky.1_Silent_p.A92A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1822	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.380952	19.39036	19.652886	8	13	KEEP	---	---	---	---	capture		Silent	SNP	2788840	2788840	2656	12	C	A	A	A	275	22	CACNA1C	2	2
SMARCC2	6601	broad.mit.edu	37	12	56563453	56563453	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56563453T>G	uc001skb.2	-	c.2482A>C	c.(2482-2484)AAG>CAG	p.K828Q	SMARCC2_uc001skd.2_Missense_Mutation_p.K859Q|SMARCC2_uc001ska.2_Missense_Mutation_p.K859Q|SMARCC2_uc001skc.2_Missense_Mutation_p.K858Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.K748Q	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	828	Glu-rich.				chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)											0.24	37.97676	41.060039	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56563453	56563453	15274	12	T	G	G	G	832	64	SMARCC2	4	4
ACSS3	79611	broad.mit.edu	37	12	81545819	81545819	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81545819C>A	uc001szl.1	+	c.1042C>A	c.(1042-1044)CAT>AAT	p.H348N	ACSS3_uc001szm.1_Missense_Mutation_p.H347N|ACSS3_uc001szn.1_Missense_Mutation_p.H30N	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	348						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.411765	87.194866	87.655094	28	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81545819	81545819	191	12	C	A	A	A	221	17	ACSS3	2	2
ATP2B1	490	broad.mit.edu	37	12	89997942	89997942	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:89997942C>A	uc001tbh.2	-	c.2624G>T	c.(2623-2625)TGC>TTC	p.C875F	ATP2B1_uc001tbg.2_Missense_Mutation_p.C875F|ATP2B1_uc001tbf.2_Missense_Mutation_p.C545F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	875	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.212766	22.942144	26.512803	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89997942	89997942	1158	12	C	A	A	A	325	25	ATP2B1	2	2
CD69	969	broad.mit.edu	37	12	9906180	9906180	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9906180T>C	uc001qwk.2	-	c.497A>G	c.(496-498)AAC>AGC	p.N166S		NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	166	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0														0.074074	1.427414	6.4582	2	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9906180	9906180	3159	12	T	C	C	C	780	60	CD69	4	4
NALCN	259232	broad.mit.edu	37	13	101936320	101936320	+	Silent	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101936320G>C	uc001vox.1	-	c.1098C>G	c.(1096-1098)GTC>GTG	p.V366V	NALCN_uc001voy.2_Silent_p.V81V|NALCN_uc001voz.2_Silent_p.V366V|NALCN_uc001vpa.2_Silent_p.V366V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	366	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.225	17.226884	20.044344	9	31	KEEP	---	---	---	---	capture		Silent	SNP	101936320	101936320	10544	13	G	C	C	C	574	45	NALCN	3	3
CARKD	55739	broad.mit.edu	37	13	111274657	111274657	+	Silent	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111274657T>A	uc001vrc.2	+	c.195T>A	c.(193-195)TCT>TCA	p.S65S	CARKD_uc010tji.1_Silent_p.S47S|CARKD_uc010tjj.1_Silent_p.S47S|CARKD_uc001vqz.2_Non-coding_Transcript|CARKD_uc001vra.2_Non-coding_Transcript|CARKD_uc010tjk.1_Intron|CARKD_uc010tjl.1_Intron|CARKD_uc001vrb.2_Silent_p.S65S	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	65	YjeF C-terminal.									skin(1)	1														0.195402	35.821862	43.35039	17	70	KEEP	---	---	---	---	capture		Silent	SNP	111274657	111274657	2773	13	T	A	A	A	717	56	CARKD	3	3
ATP12A	479	broad.mit.edu	37	13	25265298	25265298	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25265298G>T	uc010aaa.2	+	c.996G>T	c.(994-996)GTG>GTT	p.V332V	ATP12A_uc001upp.2_Silent_p.V326V	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	326	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	Pancreas(156;1582 1935 18898 22665 26498)								0.258621	41.098699	44.159719	15	43	KEEP	---	---	---	---	capture		Silent	SNP	25265298	25265298	1141	13	G	T	T	T	613	48	ATP12A	2	2
ATP12A	479	broad.mit.edu	37	13	25285542	25285542	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25285542C>A	uc010aaa.2	+	c.3104C>A	c.(3103-3105)CCT>CAT	p.P1035H	ATP12A_uc001upp.2_Missense_Mutation_p.P1029H	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	1029	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	Pancreas(156;1582 1935 18898 22665 26498)								0.2	12.93113	15.443791	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25285542	25285542	1141	13	C	A	A	A	312	24	ATP12A	2	2
GPR12	2835	broad.mit.edu	37	13	27333929	27333929	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27333929C>A	uc010aal.2	-	c.36G>T	c.(34-36)CTG>CTT	p.L12L	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	12	Extracellular (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)										0.223404	46.302938	52.940076	21	73	KEEP	---	---	---	---	capture		Silent	SNP	27333929	27333929	6909	13	C	A	A	A	314	25	GPR12	2	2
MTUS2	23281	broad.mit.edu	37	13	29598882	29598882	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29598882G>A	uc001usl.3	+	c.77G>A	c.(76-78)CGG>CAG	p.R26Q		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	16						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.303797	69.273813	71.985621	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29598882	29598882	10359	13	G	A	A	A	507	39	MTUS2	1	1
NBEA	26960	broad.mit.edu	37	13	36158090	36158090	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36158090C>T	uc001uvb.2	+	c.7091C>T	c.(7090-7092)ACA>ATA	p.T2364I	NBEA_uc010abi.2_Missense_Mutation_p.T1020I|NBEA_uc010tee.1_Missense_Mutation_p.T157I|NBEA_uc010tef.1_Missense_Mutation_p.T157I|NBEA_uc010teg.1_Missense_Mutation_p.T157I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2364	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)										0.32	85.161207	88.041802	32	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36158090	36158090	10583	13	C	T	T	T	221	17	NBEA	2	2
TRPC4	7223	broad.mit.edu	37	13	38320578	38320578	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38320578G>T	uc010abx.2	-	c.393C>A	c.(391-393)CTC>CTA	p.L131L	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.L131L|TRPC4_uc001uws.2_Silent_p.L131L|TRPC4_uc010tey.1_Silent_p.L131L|TRPC4_uc010abw.2_Intron|TRPC4_uc010aby.2_Silent_p.L131L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	131	Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.258741	81.193883	88.747769	37	106	KEEP	---	---	---	---	capture		Silent	SNP	38320578	38320578	17131	13	G	T	T	T	522	41	TRPC4	2	2
C13orf18	80183	broad.mit.edu	37	13	46946499	46946499	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46946499G>A	uc010acl.2	-	c.112C>T	c.(112-114)CCT>TCT	p.P38S	C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.P38S|C13orf18_uc001vbh.3_Missense_Mutation_p.P38S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.P38S|C13orf18_uc010tga.1_Intron	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	38											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|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;2.19e-05)										0.27027	26.434124	28.195324	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46946499	46946499	1767	13	G	A	A	A	533	41	C13orf18	2	2
PCDH9	5101	broad.mit.edu	37	13	67801090	67801090	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67801090C>T	uc001vik.2	-	c.1483G>A	c.(1483-1485)GAT>AAT	p.D495N	PCDH9_uc001vil.2_Missense_Mutation_p.D495N|PCDH9_uc010thl.1_Missense_Mutation_p.D495N|PCDH9_uc001vin.3_Missense_Mutation_p.D495N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	495	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.112	17.352928	35.948957	14	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67801090	67801090	11938	13	C	T	T	T	416	32	PCDH9	2	2
SLITRK1	114798	broad.mit.edu	37	13	84455614	84455614	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455614G>T	uc001vlk.2	-	c.29C>A	c.(28-30)ACG>AAG	p.T10K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	10						integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.191919	40.774241	49.550911	19	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455614	84455614	15240	13	G	T	T	T	520	40	SLITRK1	1	1
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248603G>C	uc010tku.1	+	c.122G>C	c.(121-123)GGA>GCA	p.G41A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.175365	225.794612	273.399523	84	395	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20248603	20248603	11485	14	G	C	C	C	533	41	OR4M1	3	3
TEP1	7011	broad.mit.edu	37	14	20859920	20859920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20859920C>T	uc001vxe.2	-	c.1935G>A	c.(1933-1935)TGG>TGA	p.W645*	TEP1_uc010ahk.2_5'UTR|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Nonsense_Mutation_p.W537*	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	645	TROVE.				telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.278146	104.375983	111.069381	42	109	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20859920	20859920	16286	14	C	T	T	T	390	30	TEP1	5	2
MYH6	4624	broad.mit.edu	37	14	23858607	23858607	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23858607C>T	uc001wjv.2	-	c.3973G>A	c.(3973-3975)GGC>AGC	p.G1325S	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1325	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.198795	72.693694	86.700399	33	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23858607	23858607	10433	14	C	T	T	T	286	22	MYH6	2	2
NFATC4	4776	broad.mit.edu	37	14	24839463	24839463	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24839463C>A	uc010tol.1	+	c.1048C>A	c.(1048-1050)CGT>AGT	p.R350S	NFATC4_uc010tok.1_Missense_Mutation_p.R350S|NFATC4_uc010alr.2_Missense_Mutation_p.R350S|NFATC4_uc010als.2_Missense_Mutation_p.R300S|NFATC4_uc010tom.1_Missense_Mutation_p.R300S|NFATC4_uc010ton.1_Missense_Mutation_p.R300S|NFATC4_uc010too.1_Missense_Mutation_p.R300S|NFATC4_uc010alt.2_Missense_Mutation_p.R319S|NFATC4_uc010top.1_Missense_Mutation_p.R319S|NFATC4_uc010toq.1_Missense_Mutation_p.R319S|NFATC4_uc010alu.2_Intron|NFATC4_uc001wpc.2_Missense_Mutation_p.R287S|NFATC4_uc010tor.1_Missense_Mutation_p.R287S|NFATC4_uc010tos.1_Missense_Mutation_p.R217S|NFATC4_uc010tot.1_Missense_Mutation_p.R275S|NFATC4_uc010tou.1_Missense_Mutation_p.R217S|NFATC4_uc010tov.1_Missense_Mutation_p.R275S|NFATC4_uc010tow.1_Missense_Mutation_p.R217S|NFATC4_uc010alv.2_Missense_Mutation_p.R275S|NFATC4_uc010tox.1_Missense_Mutation_p.R217S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	287	SP 2; approximate.|Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.018)										0.3125	25.93818	26.939835	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24839463	24839463	10765	14	C	A	A	A	299	23	NFATC4	1	1
RALGAPA1	253959	broad.mit.edu	37	14	36217805	36217805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36217805C>A	uc001wtj.2	-	c.1237G>T	c.(1237-1239)GAG>TAG	p.E413*	RALGAPA1_uc001wti.2_Nonsense_Mutation_p.E413*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.E413*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.E413*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.E264*	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	413					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.346154	24.865752	25.409724	9	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36217805	36217805	13473	14	C	A	A	A	416	32	RALGAPA1	5	2
MIA2	117153	broad.mit.edu	37	14	39716257	39716257	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39716257A>G	uc001wux.2	+	c.479A>G	c.(478-480)CAG>CGG	p.Q160R	MIA2_uc010amy.1_Missense_Mutation_p.Q91R	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	160						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)										0.253968	41.967878	45.431004	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39716257	39716257	9954	14	A	G	G	G	91	7	MIA2	4	4
NID2	22795	broad.mit.edu	37	14	52493964	52493964	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52493964A>C	uc001wzo.2	-	c.2629T>G	c.(2629-2631)TGT>GGT	p.C877G	NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Missense_Mutation_p.C877G|NID2_uc001wzp.2_Missense_Mutation_p.C877G	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	877	EGF-like 4.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.212121	16.311614	18.836251	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52493964	52493964	10816	14	A	C	C	C	91	7	NID2	4	4
PPP2R5E	5529	broad.mit.edu	37	14	63863343	63863343	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63863343C>A	uc001xgd.1	-	c.641G>T	c.(640-642)AGA>ATA	p.R214I	PPP2R5E_uc010tsf.1_Missense_Mutation_p.R138I|PPP2R5E_uc010tsg.1_Missense_Mutation_p.R138I|PPP2R5E_uc001xge.2_Missense_Mutation_p.R214I|PPP2R5E_uc010tsh.1_Missense_Mutation_p.R214I|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	214					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)										0.245283	90.436767	99.840645	39	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63863343	63863343	12832	14	C	A	A	A	416	32	PPP2R5E	2	2
ACTN1	87	broad.mit.edu	37	14	69347641	69347641	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69347641C>T	uc001xkm.2	-	c.2019G>A	c.(2017-2019)CAG>CAA	p.Q673Q	ACTN1_uc001xkk.2_Silent_p.Q269Q|ACTN1_uc010ttb.1_Silent_p.Q608Q|ACTN1_uc001xkl.2_Silent_p.Q673Q|ACTN1_uc001xkn.2_Silent_p.Q673Q|ACTN1_uc010ttc.1_Silent_p.Q258Q	NM_001130004	NP_001123476	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform a	673	Spectrin 4.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)										0.113636	14.53291	33.972231	15	117	KEEP	---	---	---	---	capture		Silent	SNP	69347641	69347641	205	14	C	T	T	T	259	20	ACTN1	2	2
SIPA1L1	26037	broad.mit.edu	37	14	72200383	72200383	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72200383G>C	uc001xms.2	+	c.4925G>C	c.(4924-4926)GGA>GCA	p.G1642A	SIPA1L1_uc001xmt.2_Missense_Mutation_p.G1621A|SIPA1L1_uc001xmu.2_Missense_Mutation_p.G1621A|SIPA1L1_uc001xmv.2_Missense_Mutation_p.G1642A|SIPA1L1_uc010ttm.1_Missense_Mutation_p.G1096A|SIPA1L1_uc001xmw.2_Missense_Mutation_p.G407A	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1642					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.189189	60.309785	70.339093	21	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72200383	72200383	14824	14	G	C	C	C	533	41	SIPA1L1	3	3
C14orf166B	145497	broad.mit.edu	37	14	77297578	77297578	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77297578G>C	uc001xsx.2	+	c.250G>C	c.(250-252)GAG>CAG	p.E84Q	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	84											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		Ovarian(165;1056 1958 32571 36789 48728)								0.159574	36.119171	46.449398	15	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77297578	77297578	1805	14	G	C	C	C	533	41	C14orf166B	3	3
TMED8	283578	broad.mit.edu	37	14	77808117	77808117	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77808117G>C	uc001xto.1	-	c.975C>G	c.(973-975)AGC>AGG	p.S325R	TMED8_uc010ast.1_Non-coding_Transcript|TMED8_uc001xtn.1_Missense_Mutation_p.S169R	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	325					transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)										0.075269	1.046138	18.256019	7	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77808117	77808117	16541	14	G	C	C	C	438	34	TMED8	3	3
NDN	4692	broad.mit.edu	37	15	23931842	23931842	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23931842C>G	uc001ywk.2	-	c.523G>C	c.(523-525)GAG>CAG	p.E175Q		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	175	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.419355	44.167634	44.344067	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23931842	23931842	10646	15	C	G	G	G	390	30	NDN	3	3
HERC2	8924	broad.mit.edu	37	15	28459892	28459892	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28459892C>A	uc001zbj.2	-	c.6267G>T	c.(6265-6267)AGG>AGT	p.R2089S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2089					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.272727	37.697213	40.260313	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28459892	28459892	7341	15	C	A	A	A	285	22	HERC2	2	2
TRPM1	4308	broad.mit.edu	37	15	31294908	31294908	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31294908T>C	uc001zfm.2	-	c.3929A>G	c.(3928-3930)AAG>AGG	p.K1310R	TRPM1_uc010azy.2_Missense_Mutation_p.K1217R|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1310	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.382857	246.492956	248.595792	67	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31294908	31294908	17136	15	T	C	C	C	728	56	TRPM1	4	4
TRPM1	4308	broad.mit.edu	37	15	31354818	31354818	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31354818A>C	uc001zfm.2	-	c.987T>G	c.(985-987)TTT>TTG	p.F329L	TRPM1_uc010azy.2_Missense_Mutation_p.F236L|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	329	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.193798	72.303345	83.584754	25	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31354818	31354818	17136	15	A	C	C	C	63	5	TRPM1	4	4
AQR	9716	broad.mit.edu	37	15	35240533	35240533	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35240533T>C	uc001ziv.2	-	c.262A>G	c.(262-264)AAG>GAG	p.K88E		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	88					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.367742	174.134853	176.517963	57	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35240533	35240533	846	15	T	C	C	C	819	63	AQR	4	4
SECISBP2L	9728	broad.mit.edu	37	15	49304865	49304865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49304865G>A	uc001zxe.1	-	c.1711C>T	c.(1711-1713)CGA>TGA	p.R571*	SECISBP2L_uc001zxd.1_Nonsense_Mutation_p.R526*|SECISBP2L_uc010bep.1_Nonsense_Mutation_p.R333*	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	571										breast(1)	1														0.072072	-4.489377	16.444676	8	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49304865	49304865	14493	15	G	A	A	A	519	40	SECISBP2L	5	1
TLN2	83660	broad.mit.edu	37	15	62989999	62990000	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62989999_62990000GG>TT	uc002alb.3	+	c.1405_1406GG>TT	c.(1405-1407)GGC>TTC	p.G469F		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	469					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.344444	94.398052	96.321305	31	59	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	62989999	62990000	16478	15	GG	TT	TT	TT	611	47	TLN2	2	2
IQCH	64799	broad.mit.edu	37	15	67713788	67713788	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:67713788C>T	uc002aqo.1	+	c.2378C>T	c.(2377-2379)TCA>TTA	p.S793L	IQCH_uc002aqq.1_Missense_Mutation_p.S450L|IQCH_uc002aqp.1_Missense_Mutation_p.S454L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	793										ovary(1)	1				Colorectal(3;0.0856)										0.396396	120.338224	121.390719	44	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67713788	67713788	8114	15	C	T	T	T	377	29	IQCH	2	2
HCN4	10021	broad.mit.edu	37	15	73617717	73617717	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73617717G>T	uc002avp.2	-	c.1659C>A	c.(1657-1659)GAC>GAA	p.D553E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	553	Cytoplasmic (Potential).		D -> N (in a patient with cardiac arrhythmia).		blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)										0.404494	204.047051	205.470905	72	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73617717	73617717	7281	15	G	T	T	T	464	36	HCN4	2	2
TM6SF1	53346	broad.mit.edu	37	15	83791516	83791516	+	Nonsense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83791516T>A	uc002bjp.2	+	c.489T>A	c.(487-489)TAT>TAA	p.Y163*	TM6SF1_uc010bmq.2_Nonsense_Mutation_p.Y163*|TM6SF1_uc002bjq.2_Intron|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Nonsense_Mutation_p.Y15*	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	163						integral to membrane				ovary(1)	1														0.333333	57.034354	58.36161	18	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83791516	83791516	16502	15	T	A	A	A	660	51	TM6SF1	5	3
IGF1R	3480	broad.mit.edu	37	15	99459900	99459900	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99459900G>T	uc002bul.2	+	c.1997_splice	c.e10-1	p.D666_splice	IGF1R_uc010urq.1_Splice_Site_SNP_p.D666_splice|IGF1R_uc010bon.2_Splice_Site_SNP_p.D666_splice|IGF1R_uc010urr.1_Splice_Site_SNP_p.D116_splice	NM_000875	NP_000866			insulin-like growth factor 1 receptor precursor						anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.435484	74.118377	74.342328	27	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	99459900	99459900	7872	15	G	T	T	T	429	33	IGF1R	5	2
BAIAP3	8938	broad.mit.edu	37	16	1394115	1394115	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1394115C>A	uc002clk.1	+	c.1584C>A	c.(1582-1584)AGC>AGA	p.S528R	BAIAP3_uc002clj.2_Missense_Mutation_p.S510R|BAIAP3_uc010uuz.1_Missense_Mutation_p.S493R|BAIAP3_uc010uva.1_Missense_Mutation_p.S465R|BAIAP3_uc010uvc.1_Missense_Mutation_p.S457R	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	528					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.175	12.898011	16.885996	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1394115	1394115	1325	16	C	A	A	A	324	25	BAIAP3	2	2
E4F1	1877	broad.mit.edu	37	16	2278460	2278460	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2278460G>T	uc002cpm.2	+	c.245G>T	c.(244-246)TGC>TTC	p.C82F	E4F1_uc010bsi.2_Missense_Mutation_p.C82F|E4F1_uc010bsj.2_Missense_Mutation_p.C82F	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	82	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth|regulation of transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.325	33.860699	34.948022	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2278460	2278460	5060	16	G	T	T	T	598	46	E4F1	2	2
APOB48R	55911	broad.mit.edu	37	16	28506503	28506503	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28506503G>T	uc002dqb.1	+	c.141G>T	c.(139-141)CTG>CTT	p.L47L	CLN3_uc010vcv.1_5'Flank|CLN3_uc010byd.2_5'Flank|CLN3_uc002dpp.2_5'Flank|CLN3_uc010vcw.1_5'Flank|CLN3_uc002dqa.2_5'Flank|CLN3_uc010vcx.1_5'Flank|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	47					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.25	7.464614	8.116695	3	9	KEEP	---	---	---	---	capture		Silent	SNP	28506503	28506503	797	16	G	T	T	T	600	47	APOB48R	2	2
TNFRSF12A	51330	broad.mit.edu	37	16	3071600	3071600	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3071600C>T	uc002csv.3	+	c.244C>T	c.(244-246)CTT>TTT	p.L82F	TNFRSF12A_uc002csw.3_Missense_Mutation_p.L47F|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_016639	NP_057723	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily,	82	Helical; (Potential).				angiogenesis|apoptosis	integral to membrane	receptor activity				0										264		OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.147541	14.730409	22.015637	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3071600	3071600	16827	16	C	T	T	T	312	24	TNFRSF12A	2	2
MEFV	4210	broad.mit.edu	37	16	3299678	3299678	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3299678A>C	uc002cun.1	-	c.1013T>G	c.(1012-1014)GTT>GGT	p.V338G		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	338					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.339623	49.108082	50.375005	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3299678	3299678	9848	16	A	C	C	C	26	2	MEFV	4	4
ZNF263	10127	broad.mit.edu	37	16	3339736	3339736	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3339736C>T	uc002cuq.2	+	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	ZNF263_uc010uww.1_Silent_p.D58D|ZNF263_uc002cur.2_Silent_p.D58D	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	410					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.257862	103.489917	111.947774	41	118	KEEP	---	---	---	---	capture		Silent	SNP	3339736	3339736	18395	16	C	T	T	T	259	20	ZNF263	2	2
C16orf90	646174	broad.mit.edu	37	16	3544801	3544801	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3544801G>A	uc002cvi.2	-	c.123C>T	c.(121-123)TCC>TCT	p.S41S		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	31											0														0.162162	10.826166	14.842676	6	31	KEEP	---	---	---	---	capture		Silent	SNP	3544801	3544801	1896	16	G	A	A	A	548	43	C16orf90	2	2
ZNF423	23090	broad.mit.edu	37	16	49670145	49670145	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49670145G>A	uc002efs.2	-	c.2918C>T	c.(2917-2919)ACG>ATG	p.T973M	ZNF423_uc010vgn.1_Missense_Mutation_p.T856M	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	973	C2H2-type 23.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.147059	13.805639	21.948138	10	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49670145	49670145	18491	16	G	A	A	A	520	40	ZNF423	1	1
CES7	221223	broad.mit.edu	37	16	55907857	55907857	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55907857C>A	uc002eip.2	-	c.166G>T	c.(166-168)GTG>TTG	p.V56L	CES7_uc002eio.2_Missense_Mutation_p.V56L|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	56					regulation of synaptic transmission	extracellular region	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)										0.166667	17.774411	22.826751	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55907857	55907857	3405	16	C	A	A	A	247	19	CES7	1	1
CDH5	1003	broad.mit.edu	37	16	66432427	66432427	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66432427G>A	uc002eom.3	+	c.1554G>A	c.(1552-1554)TTG>TTA	p.L518L		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	518	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|central_nervous_system(1)	3		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)										0.111111	9.378266	22.842154	10	80	KEEP	---	---	---	---	capture		Silent	SNP	66432427	66432427	3242	16	G	A	A	A	581	45	CDH5	2	2
EDC4	23644	broad.mit.edu	37	16	67913844	67913844	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67913844G>A	uc002eur.2	+	c.1913G>A	c.(1912-1914)AGC>AAC	p.S638N	EDC4_uc010cer.2_Missense_Mutation_p.S257N|EDC4_uc010vkg.1_Missense_Mutation_p.S570N|EDC4_uc002eus.2_Missense_Mutation_p.S368N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	638	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)										0.269841	39.545958	42.565493	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67913844	67913844	5095	16	G	A	A	A	442	34	EDC4	2	2
PDPR	55066	broad.mit.edu	37	16	70172802	70172802	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70172802G>T	uc002eyf.1	+	c.1191G>T	c.(1189-1191)AAG>AAT	p.K397N	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.K297N|PDPR_uc002eyg.1_Missense_Mutation_p.K125N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	397					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)										0.1	6.3729	22.36133	10	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70172802	70172802	12110	16	G	T	T	T	568	44	PDPR	2	2
CLEC18B	497190	broad.mit.edu	37	16	74451961	74451961	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74451961G>T	uc002fct.2	-	c.452C>A	c.(451-453)ACG>AAG	p.T151K	CLEC18B_uc002fcu.2_Missense_Mutation_p.T151K|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Missense_Mutation_p.T151K	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	151	SCP.					extracellular region	sugar binding				0														0.12	2.911113	6.452999	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74451961	74451961	3640	16	G	T	T	T	520	40	CLEC18B	1	1
CNTNAP4	85445	broad.mit.edu	37	16	76528859	76528859	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76528859C>A	uc002fex.1	+	c.2142C>A	c.(2140-2142)TAC>TAA	p.Y714*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.Y711*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.Y575*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.Y638*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.Y686*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	711	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.366197	76.825722	77.945634	26	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76528859	76528859	3787	16	C	A	A	A	259	20	CNTNAP4	5	2
MYH4	4622	broad.mit.edu	37	17	10358324	10358324	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10358324G>A	uc002gmn.2	-	c.2369C>T	c.(2368-2370)ACG>ATG	p.T790M		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	790	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.446429	71.304258	71.437064	25	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10358324	10358324	10432	17	G	A	A	A	520	40	MYH4	1	1
MYOCD	93649	broad.mit.edu	37	17	12639576	12639576	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12639576C>A	uc002gno.2	+	c.514C>A	c.(514-516)CCC>ACC	p.P172T	MYOCD_uc002gnn.2_Missense_Mutation_p.P172T|MYOCD_uc002gnp.1_Missense_Mutation_p.P76T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	172					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.316384	131.500561	136.828403	56	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12639576	12639576	10482	17	C	A	A	A	286	22	MYOCD	2	2
ZNF624	57547	broad.mit.edu	37	17	16527049	16527049	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16527049C>T	uc010cpi.1	-	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		NSCLC(186;1023 2134 13330 38202 39800)								0.318966	101.71466	105.10416	37	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16527049	16527049	18643	17	C	T	T	T	390	30	ZNF624	2	2
RAI1	10743	broad.mit.edu	37	17	17701269	17701269	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17701269G>A	uc002grm.2	+	c.5007G>A	c.(5005-5007)ACG>ACA	p.T1669T	RAI1_uc002grn.1_Silent_p.T1669T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1669						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(1115;0.0276)										0.122222	12.665247	25.241497	11	79	KEEP	---	---	---	---	capture		Silent	SNP	17701269	17701269	13467	17	G	A	A	A	470	37	RAI1	1	1
MYO15A	51168	broad.mit.edu	37	17	18022483	18022483	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18022483C>T	uc010vxh.1	+	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.263158	10.867284	11.830936	5	14	KEEP	---	---	---	---	capture		Silent	SNP	18022483	18022483	10458	17	C	T	T	T	340	27	MYO15A	1	1
NF1	4763	broad.mit.edu	37	17	29560147	29560147	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29560147G>T	uc002hgg.2	+	c.3624G>T	c.(3622-3624)TTG>TTT	p.L1208F	NF1_uc002hgh.2_Missense_Mutation_p.L1208F|NF1_uc010csn.1_Missense_Mutation_p.L1068F|NF1_uc002hgi.1_Missense_Mutation_p.L241F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1208					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)					p.L1208L(SNU175-Tumor)	847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.209877	75.658039	88.279775	34	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29560147	29560147	10756	17	G	T	T	T	607	47	NF1	2	2
ERBB2	2064	broad.mit.edu	37	17	37868201	37868201	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37868201G>A	uc002hso.2	+	c.922G>A	c.(922-924)GTG>ATG	p.V308M	ERBB2_uc002hsm.2_Missense_Mutation_p.V278M|ERBB2_uc010cwa.2_Missense_Mutation_p.V293M|ERBB2_uc002hsp.2_Missense_Mutation_p.V111M|ERBB2_uc010cwb.2_Missense_Mutation_p.V308M|ERBB2_uc010wek.1_Missense_Mutation_p.V32M|ERBB2_uc002hsl.2_Missense_Mutation_p.V278M|ERBB2_uc002hsn.1_Missense_Mutation_p.V308M	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	308	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.060656	-51.802668	71.213035	37	573	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37868201	37868201	5399	17	G	A	A	A	520	40	ERBB2	1	1
KRT14	3861	broad.mit.edu	37	17	39742587	39742587	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39742587T>C	uc002hxf.1	-	c.500A>G	c.(499-501)AAG>AGG	p.K167R	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.K167R	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	167	Linker 1.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)												0.269784	234.507045	247.798215	75	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39742587	39742587	8766	17	T	C	C	C	728	56	KRT14	4	4
KCNH4	23415	broad.mit.edu	37	17	40312060	40312060	+	Nonstop_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40312060A>T	uc002hzb.2	-	c.3052T>A	c.(3052-3054)TGA>AGA	p.*1018R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	1018					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		NSCLC(117;707 1703 2300 21308 31858)								0.226667	37.73534	42.881723	17	58	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	40312060	40312060	8339	17	A	T	T	T	91	7	KCNH4	5	3
EZH1	2145	broad.mit.edu	37	17	40857122	40857122	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40857122G>A	uc010wgu.1	-	c.1937C>T	c.(1936-1938)TCT>TTT	p.S646F	EZH1_uc002iaz.2_Missense_Mutation_p.S640F|EZH1_uc002iba.2_Missense_Mutation_p.S631F|EZH1_uc010wgt.1_Missense_Mutation_p.S570F|EZH1_uc010wgv.1_Missense_Mutation_p.S600F|EZH1_uc010wgw.1_Missense_Mutation_p.S501F|EZH1_uc010cyp.2_Missense_Mutation_p.S541F|EZH1_uc010cyq.2_Missense_Mutation_p.S557F|EZH1_uc010cyo.1_Missense_Mutation_p.S303F	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	640	SET.				anatomical structure morphogenesis|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)										0.047945	-15.903182	15.845222	7	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40857122	40857122	5527	17	G	A	A	A	429	33	EZH1	2	2
MPP2	4355	broad.mit.edu	37	17	41958710	41958710	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41958710T>C	uc010wip.1	-	c.956A>G	c.(955-957)CAT>CGT	p.H319R	MPP2_uc002ien.1_Missense_Mutation_p.H291R|MPP2_uc010wim.1_Missense_Mutation_p.H263R|MPP2_uc002ieo.1_Missense_Mutation_p.H274R|MPP2_uc010win.1_Missense_Mutation_p.H135R|MPP2_uc010wio.1_Missense_Mutation_p.H263R	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	298	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)								OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.273743	131.176642	139.451973	49	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41958710	41958710	10126	17	T	C	C	C	663	51	MPP2	4	4
IGF2BP1	10642	broad.mit.edu	37	17	47122386	47122386	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47122386C>G	uc002iom.2	+	c.1354C>G	c.(1354-1356)CGT>GGT	p.R452G	IGF2BP1_uc010dbj.2_Missense_Mutation_p.R313G	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	452	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.29003	315.24536	328.336999	96	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47122386	47122386	7874	17	C	G	G	G	403	31	IGF2BP1	3	3
ZNF594	84622	broad.mit.edu	37	17	5085737	5085737	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5085737G>A	uc010cla.1	-	c.1815C>T	c.(1813-1815)TTC>TTT	p.F605F		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	605	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.333333	255.901362	262.926922	95	190	KEEP	---	---	---	---	capture		Silent	SNP	5085737	5085737	18619	17	G	A	A	A	581	45	ZNF594	2	2
STXBP4	252983	broad.mit.edu	37	17	53237247	53237247	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:53237247G>C	uc002iuf.1	+	c.1637G>C	c.(1636-1638)AGA>ACA	p.R546T	STXBP4_uc010dcd.1_Missense_Mutation_p.R524T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	546						cytoplasm	calcium ion binding			ovary(1)	1														0.070175	0.950899	11.819119	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53237247	53237247	15875	17	G	C	C	C	429	33	STXBP4	3	3
EPX	8288	broad.mit.edu	37	17	56270748	56270748	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56270748C>T	uc002ivq.2	+	c.187C>T	c.(187-189)CGC>TGC	p.R63C		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	63					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.104167	21.467517	66.348644	30	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56270748	56270748	5393	17	C	T	T	T	403	31	EPX	1	1
RNF43	54894	broad.mit.edu	37	17	56439904	56439904	+	Splice_Site_SNP	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56439904C>G	uc002iwf.2	-	c.687_splice	c.e5+1	p.P229_splice	RNF43_uc010wnv.1_Splice_Site_SNP_p.P188_splice|RNF43_uc002iwh.3_Splice_Site_SNP_p.P229_splice|RNF43_uc002iwg.3_Splice_Site_SNP_p.P229_splice|RNF43_uc010dcw.2_Splice_Site_SNP_p.P102_splice	NM_017763	NP_060233			ring finger protein 43 precursor							endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.182927	38.074898	45.814295	15	67	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56439904	56439904	13974	17	C	G	G	G	234	18	RNF43	5	3
RPS6KB1	6198	broad.mit.edu	37	17	57992021	57992021	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57992021G>C	uc002ixy.2	+	c.338G>C	c.(337-339)GGA>GCA	p.G113A	RPS6KB1_uc010ddj.1_Missense_Mutation_p.G113A|RPS6KB1_uc010wom.1_Missense_Mutation_p.G60A|RPS6KB1_uc010won.1_Intron|RPS6KB1_uc010woo.1_Missense_Mutation_p.G48A	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	113	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)							182				0.243056	112.263331	120.921434	35	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57992021	57992021	14136	17	G	C	C	C	533	41	RPS6KB1	3	3
CACNG5	27091	broad.mit.edu	37	17	64873625	64873625	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64873625T>A	uc002jfr.2	+	c.175T>A	c.(175-177)TGG>AGG	p.W59R	CACNG5_uc010wqi.1_Missense_Mutation_p.W59R|CACNG5_uc010wqj.1_Missense_Mutation_p.W59R	NM_014404	NP_055219	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	59					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|postsynaptic density	voltage-gated calcium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)											0.296296	90.860066	94.866707	32	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64873625	64873625	2676	17	T	A	A	A	715	55	CACNG5	3	3
NEURL4	84461	broad.mit.edu	37	17	7220798	7220798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7220798G>A	uc002gga.1	-	c.4300C>T	c.(4300-4302)CGA>TGA	p.R1434*	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Nonsense_Mutation_p.R1432*	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1434							protein binding			ovary(1)	1														0.12426	23.875152	47.15841	21	148	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7220798	7220798	10747	17	G	A	A	A	506	39	NEURL4	5	1
POLR2A	5430	broad.mit.edu	37	17	7416687	7416687	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7416687A>T	uc002ghf.3	+	c.5104A>T	c.(5104-5106)ACA>TCA	p.T1702S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1702	16.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)												0.485714	47.169629	47.17594	17	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7416687	7416687	12642	17	A	T	T	T	130	10	POLR2A	3	3
FASN	2194	broad.mit.edu	37	17	80046702	80046702	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80046702C>T	uc002kdu.2	-	c.2355G>A	c.(2353-2355)ATG>ATA	p.M785I	FASN_uc002kdw.1_Missense_Mutation_p.M1I	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	785	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.197368	29.301012	35.771235	15	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80046702	80046702	5919	17	C	T	T	T	377	29	FASN	2	2
FAM38B	63895	broad.mit.edu	37	18	10672737	10672737	+	Silent	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10672737G>C	uc002kor.3	-	c.1827C>G	c.(1825-1827)GTC>GTG	p.V609V	FAM38B_uc002koq.2_Silent_p.V444V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2652						integral to membrane	ion channel activity			ovary(1)	1														0.238095	75.722868	82.300295	25	80	KEEP	---	---	---	---	capture		Silent	SNP	10672737	10672737	5776	18	G	C	C	C	418	33	FAM38B	3	3
ZNF521	25925	broad.mit.edu	37	18	22807089	22807089	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22807089T>A	uc002kvk.2	-	c.793A>T	c.(793-795)ATT>TTT	p.I265F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.I265F|ZNF521_uc002kvl.2_Missense_Mutation_p.I45F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	265	C2H2-type 6.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.314815	99.212167	102.506712	34	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22807089	22807089	18559	18	T	A	A	A	663	51	ZNF521	3	3
TAF4B	6875	broad.mit.edu	37	18	23873416	23873416	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:23873416C>T	uc002kvt.3	+	c.1768C>T	c.(1768-1770)CCT>TCT	p.P590S	TAF4B_uc002kvu.3_Missense_Mutation_p.P585S|TAF4B_uc002kvs.3_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	585					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity|transcription initiation factor activity			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)											0.263158	12.765403	13.729932	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23873416	23873416	16048	18	C	T	T	T	338	26	TAF4B	2	2
SMARCA4	6597	broad.mit.edu	37	19	11169547	11169547	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11169547C>T	uc010dxo.2	+	c.4713C>T	c.(4711-4713)TTC>TTT	p.F1571F	SMARCA4_uc002mqf.3_Silent_p.F1539F|SMARCA4_uc010dxp.2_Silent_p.F1539F|SMARCA4_uc010dxq.2_Silent_p.F1506F|SMARCA4_uc010dxr.2_Silent_p.F1505F|SMARCA4_uc002mqj.3_Silent_p.F1509F|SMARCA4_uc010dxs.2_Silent_p.F1508F|SMARCA4_uc002mqh.3_Silent_p.F629F	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1539	Bromo.	Required for binding to 'Lys-15'- acetylated histone 3.		F->A: Abolishes binding to 'Lys-15'- acetylated histone H3.	chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity			lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.34375	54.221097	55.605635	22	42	KEEP	---	---	---	---	capture		Silent	SNP	11169547	11169547	15268	19	C	T	T	T	376	29	SMARCA4	2	2
ZNF799	90576	broad.mit.edu	37	19	12502033	12502033	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12502033G>A	uc010dyt.2	-	c.1179C>T	c.(1177-1179)CAC>CAT	p.H393H	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	393	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)	5														0.36875	157.766742	160.195583	59	101	KEEP	---	---	---	---	capture		Silent	SNP	12502033	12502033	18764	19	G	A	A	A	620	48	ZNF799	2	2
CHERP	10523	broad.mit.edu	37	19	16631280	16631280	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16631280C>T	uc002nei.1	-	c.2240G>A	c.(2239-2241)GGG>GAG	p.G747E	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_Non-coding_Transcript|CHERP_uc010xpg.1_Missense_Mutation_p.G286E	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	747	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2														0.097561	13.449361	53.323461	24	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16631280	16631280	3470	19	C	T	T	T	286	22	CHERP	2	2
GPR4	2828	broad.mit.edu	37	19	46095096	46095096	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46095096T>G	uc002pcm.2	-	c.29A>C	c.(28-30)CAC>CCC	p.H10P	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	10	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		Esophageal Squamous(117;181 1612 1673 14956 42937)								0.380952	83.690612	84.471758	24	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46095096	46095096	6969	19	T	G	G	G	767	59	GPR4	4	4
CCDC61	729440	broad.mit.edu	37	19	46506741	46506741	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46506741G>T	uc002pdw.2	+	c.384G>T	c.(382-384)CTG>CTT	p.L128L		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)										0.235294	9.290818	10.380732	4	13	KEEP	---	---	---	---	capture		Silent	SNP	46506741	46506741	2955	19	G	T	T	T	600	47	CCDC61	2	2
LRRC4B	94030	broad.mit.edu	37	19	51021452	51021452	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51021452C>T	uc002pss.2	-	c.1518G>A	c.(1516-1518)CCG>CCA	p.P506P		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	506	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)										0.5	17.84805	17.84805	7	7	KEEP	---	---	---	---	capture		Silent	SNP	51021452	51021452	9382	19	C	T	T	T	340	27	LRRC4B	1	1
ZNF578	147660	broad.mit.edu	37	19	53007912	53007912	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53007912G>T	uc002pzp.3	+	c.68G>T	c.(67-69)CGC>CTC	p.R23L		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	Error:Variant_position_missing_in_Q96N58_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.263804	118.935776	127.104916	43	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53007912	53007912	18605	19	G	T	T	T	494	38	ZNF578	1	1
PEG3	5178	broad.mit.edu	37	19	57325767	57325767	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57325767G>A	uc002qnu.2	-	c.4043C>T	c.(4042-4044)ACT>ATT	p.T1348I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1319I|PEG3_uc002qnv.2_Missense_Mutation_p.T1348I|PEG3_uc002qnw.2_Missense_Mutation_p.T1224I|PEG3_uc002qnx.2_Missense_Mutation_p.T1222I|PEG3_uc010etr.2_Missense_Mutation_p.T1348I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1348	C2H2-type 10.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.265823	56.743099	60.654963	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57325767	57325767	12141	19	G	A	A	A	468	36	PEG3	2	2
USP29	57663	broad.mit.edu	37	19	57640928	57640928	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640928C>A	uc002qny.2	+	c.885C>A	c.(883-885)TAC>TAA	p.Y295*		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	295					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.307692	57.77517	59.918276	20	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57640928	57640928	17623	19	C	A	A	A	220	17	USP29	5	2
ACTL9	284382	broad.mit.edu	37	19	8807981	8807981	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8807981C>G	uc002mkl.2	-	c.1071G>C	c.(1069-1071)GAG>GAC	p.E357D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	357						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3														0.46875	45.713578	45.741405	15	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8807981	8807981	204	19	C	G	G	G	363	28	ACTL9	3	3
COL11A1	1301	broad.mit.edu	37	1	103481273	103481273	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103481273G>T	uc001dum.2	-	c.1475C>A	c.(1474-1476)CCA>CAA	p.P492Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.P480Q|COL11A1_uc001dun.2_Missense_Mutation_p.P441Q|COL11A1_uc009weh.2_Missense_Mutation_p.P364Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	480	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.454545	14.270843	14.29095	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103481273	103481273	3805	1	G	T	T	T	611	47	COL11A1	2	2
WARS2	10352	broad.mit.edu	37	1	119575582	119575582	+	Silent	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119575582T>C	uc001ehn.2	-	c.1035A>G	c.(1033-1035)TTA>TTG	p.L345L	WARS2_uc010oxf.1_Silent_p.L251L|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.L288L|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	345					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)									0.283505	177.44937	185.610657	55	139	KEEP	---	---	---	---	capture		Silent	SNP	119575582	119575582	17822	1	T	C	C	C	686	53	WARS2	4	4
ITGA10	8515	broad.mit.edu	37	1	145533105	145533105	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145533105G>A	uc001eoa.2	+	c.1200G>A	c.(1198-1200)GTG>GTA	p.V400V	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.V269V|ITGA10_uc009wiw.2_Silent_p.V257V|ITGA10_uc010oyw.1_Silent_p.V345V	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	400	Extracellular (Potential).|FG-GAP 3.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.252252	61.303991	67.536974	28	83	KEEP	---	---	---	---	capture		Silent	SNP	145533105	145533105	8177	1	G	A	A	A	587	46	ITGA10	2	2
POLR3C	10623	broad.mit.edu	37	1	145609339	145609339	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145609339T>C	uc001eog.2	-	c.37A>G	c.(37-39)ACA>GCA	p.T13A	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eoh.2_5'UTR|POLR3C_uc001eoi.2_Non-coding_Transcript|POLR3C_uc009wix.2_5'UTR	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	Error:Variant_position_missing_in_Q9BUI4_after_alignment					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)											0.295455	45.060666	46.705625	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145609339	145609339	12658	1	T	C	C	C	729	57	POLR3C	4	4
SV2A	9900	broad.mit.edu	37	1	149881043	149881043	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149881043C>A	uc001etg.2	-	c.1260G>T	c.(1258-1260)TGG>TGT	p.W420C	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.W420C	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	420	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.317073	69.145412	71.57217	26	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149881043	149881043	15937	1	C	A	A	A	286	22	SV2A	2	2
OTUD7B	56957	broad.mit.edu	37	1	149919162	149919162	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149919162G>A	uc001etn.2	-	c.1313C>T	c.(1312-1314)TCT>TTT	p.S438F		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	438	Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)											0.246154	80.791361	88.463049	32	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149919162	149919162	11732	1	G	A	A	A	429	33	OTUD7B	2	2
PRPF3	9129	broad.mit.edu	37	1	150321643	150321643	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150321643G>T	uc001eum.3	+	c.1854G>T	c.(1852-1854)GAG>GAT	p.E618D	PRPF3_uc010pca.1_Missense_Mutation_p.E577D|PRPF3_uc010pcb.1_Missense_Mutation_p.E569D	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	618					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		Ovarian(168;1070 2670 5178 20729)								0.179687	99.182138	123.898803	46	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150321643	150321643	13008	1	G	T	T	T	464	36	PRPF3	2	2
CGN	57530	broad.mit.edu	37	1	151503155	151503155	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151503155G>T	uc009wmw.2	+	c.2504G>T	c.(2503-2505)CGA>CTA	p.R835L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	829	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.5	8.123957	8.123957	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151503155	151503155	3436	1	G	T	T	T	481	37	CGN	1	1
HRNR	388697	broad.mit.edu	37	1	152192637	152192637	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152192637C>T	uc001ezt.1	-	c.1468G>A	c.(1468-1470)GGC>AGC	p.G490S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	490	5.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.132565	59.885717	105.465599	46	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152192637	152192637	7653	1	C	T	T	T	299	23	HRNR	1	1
OR6K6	128371	broad.mit.edu	37	1	158725087	158725087	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158725087C>A	uc001fsw.1	+	c.482C>A	c.(481-483)CCA>CAA	p.P161Q		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	161	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)													0.205882	63.927897	74.833788	28	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158725087	158725087	11614	1	C	A	A	A	273	21	OR6K6	2	2
ASTN1	460	broad.mit.edu	37	1	176837984	176837984	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176837984G>T	uc001glc.2	-	c.3643C>A	c.(3643-3645)CCC>ACC	p.P1215T	ASTN1_uc001glb.1_Missense_Mutation_p.P1215T|ASTN1_uc001gld.1_Missense_Mutation_p.P1215T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1223					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.169492	34.318062	46.527512	20	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176837984	176837984	1083	1	G	T	T	T	533	41	ASTN1	2	2
LAMC1	3915	broad.mit.edu	37	1	183099666	183099666	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183099666A>C	uc001gpy.3	+	c.3468A>C	c.(3466-3468)AAA>AAC	p.K1156N		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1156	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.186441	22.29311	27.72675	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183099666	183099666	8937	1	A	C	C	C	37	3	LAMC1	4	4
KCNT2	343450	broad.mit.edu	37	1	196309547	196309547	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196309547C>T	uc001gtd.1	-	c.1707G>A	c.(1705-1707)CAG>CAA	p.Q569Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.Q519Q|KCNT2_uc001gtf.1_Silent_p.Q569Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Silent_p.Q569Q|KCNT2_uc001gth.1_Silent_p.Q90Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	569	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														0.202247	41.194152	48.529119	18	71	KEEP	---	---	---	---	capture		Silent	SNP	196309547	196309547	8397	1	C	T	T	T	415	32	KCNT2	2	2
RNPEP	6051	broad.mit.edu	37	1	201969089	201969089	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201969089G>T	uc001gxd.2	+	c.1150G>T	c.(1150-1152)GAC>TAC	p.D384Y	RNPEP_uc001gxe.2_Missense_Mutation_p.D85Y|RNPEP_uc001gxf.2_Missense_Mutation_p.D253Y	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	384					leukotriene biosynthetic process|proteolysis		epoxide hydrolase activity|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GBM(19;39 479 7473 13131 19462)						OREG0014093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.196721	22.405335	27.604887	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201969089	201969089	13988	1	G	T	T	T	533	41	RNPEP	2	2
HEATR1	55127	broad.mit.edu	37	1	236732404	236732404	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236732404G>C	uc001hyd.1	-	c.3969C>G	c.(3967-3969)ATC>ATG	p.I1323M	HEATR1_uc009xgh.1_Missense_Mutation_p.I485M	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1323					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.127273	13.685442	21.13653	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236732404	236732404	7310	1	G	C	C	C	577	45	HEATR1	3	3
FMN2	56776	broad.mit.edu	37	1	240255649	240255649	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240255649C>G	uc010pye.1	+	c.240C>G	c.(238-240)ATC>ATG	p.I80M	FMN2_uc010pyd.1_Missense_Mutation_p.I80M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	80					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.35	25.31915	25.716135	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240255649	240255649	6192	1	C	G	G	G	369	29	FMN2	3	3
MYOM3	127294	broad.mit.edu	37	1	24400733	24400733	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24400733C>A	uc001bin.3	-	c.2885G>T	c.(2884-2886)GGC>GTC	p.G962V	MYOM3_uc001bim.3_Missense_Mutation_p.G619V|MYOM3_uc001bio.2_Missense_Mutation_p.G962V	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	962										ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)										0.328571	119.196679	122.847406	46	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24400733	24400733	10488	1	C	A	A	A	338	26	MYOM3	2	2
ZNF669	79862	broad.mit.edu	37	1	247267335	247267335	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247267335C>T	uc001ice.2	-	c.167G>A	c.(166-168)GGG>GAG	p.G56E	ZNF669_uc001icf.2_Intron	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.214286	6.120789	7.173876	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247267335	247267335	18671	1	C	T	T	T	286	22	ZNF669	2	2
OR2T8	343172	broad.mit.edu	37	1	248084397	248084397	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248084397C>A	uc010pzc.1	+	c.78C>A	c.(76-78)TTC>TTA	p.F26L		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.26087	119.498724	129.036249	48	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248084397	248084397	11436	1	C	A	A	A	376	29	OR2T8	2	2
OR2L8	391190	broad.mit.edu	37	1	248112550	248112550	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112550T>A	uc001idt.1	+	c.391T>A	c.(391-393)TAT>AAT	p.Y131N	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	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)											0.167247	88.844496	118.951716	48	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248112550	248112550	11415	1	T	A	A	A	689	53	OR2L8	3	3
OR2T33	391195	broad.mit.edu	37	1	248436673	248436673	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436673G>A	uc010pzi.1	-	c.444C>T	c.(442-444)CTC>CTT	p.L148L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.190909	43.604119	53.433256	21	89	KEEP	---	---	---	---	capture		Silent	SNP	248436673	248436673	11430	1	G	A	A	A	522	41	OR2T33	2	2
OR2T33	391195	broad.mit.edu	37	1	248437039	248437039	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248437039G>T	uc010pzi.1	-	c.78C>A	c.(76-78)TTC>TTA	p.F26L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.048889	-30.981844	17.71555	11	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248437039	248437039	11430	1	G	T	T	T	581	45	OR2T33	2	2
OR2T3	343173	broad.mit.edu	37	1	248637546	248637546	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637546A>C	uc001iel.1	+	c.895A>C	c.(895-897)AAC>CAC	p.N299H		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.141732	122.402481	169.554152	54	327	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248637546	248637546	11429	1	A	C	C	C	65	5	OR2T3	4	4
SH3BP5L	80851	broad.mit.edu	37	1	249118957	249118957	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249118957T>A	uc001iew.1	-	c.178A>T	c.(178-180)ATA>TTA	p.I60L	SH3BP5L_uc001iev.1_5'UTR	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	60	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)											0.188329	160.410677	194.686158	71	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249118957	249118957	14739	1	T	A	A	A	676	52	SH3BP5L	3	3
BAI2	576	broad.mit.edu	37	1	32196651	32196651	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32196651C>A	uc001btn.2	-	c.4130G>T	c.(4129-4131)CGG>CTG	p.R1377L	BAI2_uc001btm.2_Missense_Mutation_p.R371L|BAI2_uc001btp.1_Missense_Mutation_p.R371L|BAI2_uc010ogn.1_Missense_Mutation_p.R347L|BAI2_uc010ogo.1_Missense_Mutation_p.R986L|BAI2_uc010ogp.1_Missense_Mutation_p.R1310L|BAI2_uc010ogq.1_Missense_Mutation_p.R1344L|BAI2_uc001bto.2_Missense_Mutation_p.R1377L	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1377	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)										0.375	17.144457	17.364445	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32196651	32196651	1320	1	C	A	A	A	299	23	BAI2	1	1
ARHGEF16	27237	broad.mit.edu	37	1	3390029	3390029	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3390029G>A	uc001akg.3	+	c.1248G>A	c.(1246-1248)ATG>ATA	p.M416I	ARHGEF16_uc001aki.2_Missense_Mutation_p.M128I|ARHGEF16_uc001akj.2_Missense_Mutation_p.M128I|ARHGEF16_uc009vli.1_Missense_Mutation_p.M120I|ARHGEF16_uc010nzh.1_Missense_Mutation_p.M120I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	416	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)										0.246575	34.903789	39.186402	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3390029	3390029	913	1	G	A	A	A	598	46	ARHGEF16	2	2
KLF17	128209	broad.mit.edu	37	1	44596259	44596259	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44596259T>A	uc001clp.2	+	c.1001T>A	c.(1000-1002)ATG>AAG	p.M334K		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	334	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.371795	182.515608	184.765776	58	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44596259	44596259	8657	1	T	A	A	A	663	51	KLF17	3	3
DAB1	1600	broad.mit.edu	37	1	57489281	57489281	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57489281G>T	uc001cys.1	-	c.818C>A	c.(817-819)CCA>CAA	p.P273Q	DAB1_uc001cyt.1_Missense_Mutation_p.P271Q|DAB1_uc001cyq.1_Missense_Mutation_p.P271Q|DAB1_uc001cyr.1_Missense_Mutation_p.P187Q|DAB1_uc009vzw.1_Missense_Mutation_p.P255Q|DAB1_uc009vzx.1_Missense_Mutation_p.P273Q	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	306					cell differentiation|nervous system development					ovary(1)	1										395				0.25	13.535652	14.90175	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57489281	57489281	4383	1	G	T	T	T	611	47	DAB1	2	2
NCOA6	23054	broad.mit.edu	37	20	33330872	33330872	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33330872G>A	uc002xav.2	-	c.3188C>T	c.(3187-3189)CCC>CTC	p.P1063L	NCOA6_uc002xaw.2_Missense_Mutation_p.P1063L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1063	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.269896	199.511647	213.336043	78	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33330872	33330872	10632	20	G	A	A	A	559	43	NCOA6	2	2
SIGLEC1	6614	broad.mit.edu	37	20	3672024	3672024	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3672024C>A	uc002wja.2	-	c.4554G>T	c.(4552-4554)GGG>GGT	p.G1518G	SIGLEC1_uc002wjb.1_Silent_p.G157G|SIGLEC1_uc002wiz.3_Silent_p.G1518G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1518	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.307692	74.254172	77.687654	32	72	KEEP	---	---	---	---	capture		Silent	SNP	3672024	3672024	14800	20	C	A	A	A	275	22	SIGLEC1	2	2
WFDC10B	280664	broad.mit.edu	37	20	44313498	44313498	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44313498A>T	uc002xpc.2	-	c.241T>A	c.(241-243)TGT>AGT	p.C81S	WFDC10B_uc002xpb.2_Missense_Mutation_p.C65S	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B isoform b	65	WAP.					extracellular region	peptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.308642	142.288532	147.575804	50	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44313498	44313498	17922	20	A	T	T	T	91	7	WFDC10B	3	3
MOCS3	27304	broad.mit.edu	37	20	49575710	49575710	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49575710C>G	uc002xvy.1	+	c.331C>G	c.(331-333)CTT>GTT	p.L111V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	111					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.167702	53.419695	70.271992	27	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49575710	49575710	10083	20	C	G	G	G	312	24	MOCS3	3	3
ZFP64	55734	broad.mit.edu	37	20	50769377	50769377	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50769377C>T	uc002xwl.2	-	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.E450K|ZFP64_uc002xwn.2_Missense_Mutation_p.E398K	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.104762	6.559219	22.866085	11	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50769377	50769377	18241	20	C	T	T	T	377	29	ZFP64	2	2
PRIC285	85441	broad.mit.edu	37	20	62202177	62202177	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62202177G>T	uc002yfm.2	-	c.323C>A	c.(322-324)TCA>TAA	p.S108*	PRIC285_uc002yfn.2_Nonsense_Mutation_p.S108*	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	108					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)											0.214286	12.432623	14.545897	6	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62202177	62202177	12928	20	G	T	T	T	585	45	PRIC285	5	2
PLCB1	23236	broad.mit.edu	37	20	8769149	8769149	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8769149G>A	uc002wnb.2	+	c.3165G>A	c.(3163-3165)AAG>AAA	p.K1055K	PLCB1_uc010zrb.1_Silent_p.K954K|PLCB1_uc002wna.2_Silent_p.K1055K|PLCB1_uc002wnc.1_Silent_p.K954K|PLCB1_uc002wnd.1_Silent_p.K632K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1055					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.290323	23.561393	24.78329	9	22	KEEP	---	---	---	---	capture		Silent	SNP	8769149	8769149	12453	20	G	A	A	A	425	33	PLCB1	2	2
CYYR1	116159	broad.mit.edu	37	21	27852651	27852651	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27852651T>A	uc002yme.2	-	c.274A>T	c.(274-276)AGG>TGG	p.R92W	CYYR1_uc002ymd.2_Missense_Mutation_p.R92W|CYYR1_uc011ack.1_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	92	Cytoplasmic (Potential).					integral to membrane					0														0.198413	54.307222	64.974848	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27852651	27852651	4376	21	T	A	A	A	713	55	CYYR1	3	3
KRTAP13-2	337959	broad.mit.edu	37	21	31744152	31744152	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31744152A>T	uc002ynz.3	-	c.380T>A	c.(379-381)GTC>GAC	p.V127D		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	127						intermediate filament					0														0.105263	2.609406	11.443649	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31744152	31744152	8838	21	A	T	T	T	130	10	KRTAP13-2	3	3
ETS2	2114	broad.mit.edu	37	21	40186898	40186898	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40186898G>A	uc002yxf.2	+	c.918G>A	c.(916-918)ATG>ATA	p.M306I	ETS2_uc002yxg.2_Missense_Mutation_p.M166I	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	166	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|pancreas(1)	3		Prostate(19;6.33e-08)|all_epithelial(19;0.123)												0.222222	94.900253	107.680069	40	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40186898	40186898	5469	21	G	A	A	A	585	45	ETS2	2	2
KRTAP10-7	386675	broad.mit.edu	37	21	46021524	46021524	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46021524G>A	uc002zfn.3	+	c.988G>A	c.(988-990)GCC>ACC	p.A330T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	335	30 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.070423	-3.763184	9.740063	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46021524	46021524	8829	21	G	A	A	A	494	38	KRTAP10-7	1	1
KRTAP10-11	386678	broad.mit.edu	37	21	46067109	46067109	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46067109G>C	uc002zfr.3	+	c.734G>C	c.(733-735)TGC>TCC	p.C245S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	245	25 X 5 AA repeats of C-C-X(3).					keratin filament				ovary(1)	1														0.17033	75.236226	93.926184	31	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46067109	46067109	8822	21	G	C	C	C	598	46	KRTAP10-11	3	3
SLC25A18	83733	broad.mit.edu	37	22	18063888	18063888	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18063888C>A	uc002zmp.1	+	c.106C>A	c.(106-108)CTG>ATG	p.L36M	SLC25A18_uc010gqx.2_Missense_Mutation_p.L36M|SLC25A18_uc002zmq.1_Missense_Mutation_p.L36M	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	36	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	Colon(118;1560 1625 18964 29606 50093)								0.769231	32.155514	33.018635	10	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18063888	18063888	14977	22	C	A	A	A	311	24	SLC25A18	2	2
GSC2	2928	broad.mit.edu	37	22	19136549	19136549	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19136549C>T	uc011ags.1	-	c.573G>A	c.(571-573)GCG>GCA	p.A191A		NM_005315	NP_005306	O15499	GSC2_HUMAN	goosecoid homeobox 2	191					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Colorectal(54;0.0993)													0.333333	9.994639	10.290528	4	8	KEEP	---	---	---	---	capture		Silent	SNP	19136549	19136549	7095	22	C	T	T	T	392	31	GSC2	1	1
NCAPH2	29781	broad.mit.edu	37	22	50956587	50956587	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50956587C>T	uc003blx.3	+	c.526C>T	c.(526-528)CGG>TGG	p.R176W	NCAPH2_uc003blq.3_Missense_Mutation_p.R176W|NCAPH2_uc003blv.2_Missense_Mutation_p.R176W|NCAPH2_uc003blr.3_Missense_Mutation_p.R176W|NCAPH2_uc010hbb.2_Missense_Mutation_p.R27W|NCAPH2_uc003blu.3_Non-coding_Transcript|NCAPH2_uc003bls.3_Non-coding_Transcript|NCAPH2_uc003blt.3_Non-coding_Transcript|NCAPH2_uc003blw.3_Non-coding_Transcript|NCAPH2_uc003bly.3_Non-coding_Transcript	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	176					chromosome condensation	chromosome|nucleus				ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)										0.313433	59.344342	61.423835	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50956587	50956587	10609	22	C	T	T	T	295	23	NCAPH2	1	1
REV1	51455	broad.mit.edu	37	2	100050907	100050907	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:100050907T>A	uc002tad.2	-	c.1325A>T	c.(1324-1326)AAA>ATA	p.K442I	REV1_uc002tac.2_Missense_Mutation_p.K442I	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	442	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2														0.428571	35.295708	35.42024	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100050907	100050907	13709	2	T	A	A	A	832	64	REV1	3	3
GREB1	9687	broad.mit.edu	37	2	11716647	11716647	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11716647G>A	uc002rbk.1	+	c.623G>A	c.(622-624)TGT>TAT	p.C208Y	GREB1_uc002rbl.2_Missense_Mutation_p.C208Y|GREB1_uc002rbm.2_Missense_Mutation_p.C98Y|GREB1_uc002rbn.1_Missense_Mutation_p.C208Y	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	208						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		Ovarian(39;850 945 2785 23371 33093)								0.06015	-10.916533	15.994418	8	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11716647	11716647	7037	2	G	A	A	A	624	48	GREB1	2	2
FAM123C	205147	broad.mit.edu	37	2	131520566	131520566	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131520566C>T	uc002trw.2	+	c.921C>T	c.(919-921)ACC>ACT	p.T307T	FAM123C_uc010fmv.2_Silent_p.T307T|FAM123C_uc010fms.1_Silent_p.T307T|FAM123C_uc010fmt.1_Silent_p.T307T|FAM123C_uc010fmu.1_Silent_p.T307T	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	307										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.5	111.532414	111.532414	37	37	KEEP	---	---	---	---	capture		Silent	SNP	131520566	131520566	5621	2	C	T	T	T	262	21	FAM123C	2	2
FAM123C	205147	broad.mit.edu	37	2	131521626	131521626	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131521626G>A	uc002trw.2	+	c.1981G>A	c.(1981-1983)GGT>AGT	p.G661S	FAM123C_uc010fmv.2_Missense_Mutation_p.G661S|FAM123C_uc010fms.1_Missense_Mutation_p.G661S|FAM123C_uc010fmt.1_Missense_Mutation_p.G661S|FAM123C_uc010fmu.1_Missense_Mutation_p.G661S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	661										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.363636	23.793288	24.153519	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131521626	131521626	5621	2	G	A	A	A	455	35	FAM123C	2	2
SCN2A	6326	broad.mit.edu	37	2	166245809	166245810	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166245809_166245810AG>TT	uc002udc.2	+	c.5493_5494AG>TT	c.(5491-5496)ATAGCA>ATTTCA	p.A1832S	SCN2A_uc002udd.2_Missense_Mutation_p.A1832S|SCN2A_uc002ude.2_Missense_Mutation_p.A1832S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1832					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.388889	169.157655	170.717809	56	88	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	166245809	166245810	14398	2	AG	TT	TT	TT	189	15	SCN2A	3	3
SATB2	23314	broad.mit.edu	37	2	200173488	200173488	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200173488C>A	uc002uuy.1	-	c.1735G>T	c.(1735-1737)GTG>TTG	p.V579L	SATB2_uc010fsq.1_Missense_Mutation_p.V461L|SATB2_uc002uuz.1_Missense_Mutation_p.V579L|SATB2_uc002uva.1_Missense_Mutation_p.V579L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	579						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.276316	58.560466	61.972699	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200173488	200173488	14335	2	C	A	A	A	234	18	SATB2	2	2
WDR35	57539	broad.mit.edu	37	2	20131061	20131061	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20131061T>A	uc002rdi.2	-	c.2966A>T	c.(2965-2967)CAG>CTG	p.Q989L	WDR35_uc002rdj.2_Missense_Mutation_p.Q978L|WDR35_uc010ext.2_Non-coding_Transcript|WDR35_uc002rdh.2_Missense_Mutation_p.Q462L	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	989										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.382716	92.104622	93.082069	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20131061	20131061	17862	2	T	A	A	A	715	55	WDR35	3	3
RHOB	388	broad.mit.edu	37	2	20647421	20647421	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20647421C>T	uc002rdv.2	+	c.195C>T	c.(193-195)GAC>GAT	p.D65D		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	65					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)										0.377778	44.114073	44.684297	17	28	KEEP	---	---	---	---	capture		Silent	SNP	20647421	20647421	13807	2	C	T	T	T	259	20	RHOB	2	2
SPAG16	79582	broad.mit.edu	37	2	214794784	214794784	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214794784G>T	uc002veq.2	+	c.1315G>T	c.(1315-1317)GTG>TTG	p.V439L	SPAG16_uc010fuz.1_Missense_Mutation_p.V290L|SPAG16_uc002ver.2_Missense_Mutation_p.V385L|SPAG16_uc010zjk.1_Missense_Mutation_p.V345L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	439	WD 3.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.117647	17.996402	35.070821	14	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214794784	214794784	15481	2	G	T	T	T	468	36	SPAG16	2	2
GMPPA	29926	broad.mit.edu	37	2	220371440	220371440	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220371440G>C	uc002vlt.2	+	c.1342G>C	c.(1342-1344)GCC>CCC	p.A448P	GMPPA_uc002vlr.2_Missense_Mutation_p.A395P|GMPPA_uc002vls.2_Missense_Mutation_p.A395P|GMPPA_uc002vlu.2_Missense_Mutation_p.A448P|GMPPA_uc002vlv.2_Missense_Mutation_p.A395P|GMPPA_uc002vlw.2_Non-coding_Transcript|GMPPA_uc002vlx.2_Missense_Mutation_p.A395P	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	395					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)										0.355556	53.988898	54.815498	16	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220371440	220371440	6763	2	G	C	C	C	598	46	GMPPA	3	3
TMEM214	54867	broad.mit.edu	37	2	27259358	27259358	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27259358C>G	uc002ria.3	+	c.724C>G	c.(724-726)CTG>GTG	p.L242V	TMEM214_uc010yle.1_Non-coding_Transcript|TMEM214_uc002rib.3_Missense_Mutation_p.L197V	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	242						integral to membrane	protein binding				0														0.338095	207.118693	212.006932	71	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27259358	27259358	16673	2	C	G	G	G	311	24	TMEM214	3	3
EMILIN1	11117	broad.mit.edu	37	2	27306318	27306318	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27306318G>A	uc002rii.3	+	c.1879G>A	c.(1879-1881)GAC>AAC	p.D627N	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	627					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.170732	11.294919	15.506266	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27306318	27306318	5285	2	G	A	A	A	533	41	EMILIN1	2	2
ABCG5	64240	broad.mit.edu	37	2	44065024	44065024	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44065024C>T	uc002rtn.2	-	c.214G>A	c.(214-216)GTC>ATC	p.V72I	ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	72	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.357143	138.325712	141.117092	55	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44065024	44065024	72	2	C	T	T	T	221	17	ABCG5	2	2
POLR1A	25885	broad.mit.edu	37	2	86255764	86255764	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86255764G>A	uc002sqs.2	-	c.4850C>T	c.(4849-4851)GCG>GTG	p.A1617V	POLR1A_uc010ytb.1_Missense_Mutation_p.A983V	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1617					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.077519	-2.246277	21.30572	10	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86255764	86255764	12637	2	G	A	A	A	494	38	POLR1A	1	1
REEP1	65055	broad.mit.edu	37	2	86459766	86459766	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86459766C>G	uc002srh.3	-	c.577G>C	c.(577-579)GAG>CAG	p.E193Q	REEP1_uc010ytg.1_Missense_Mutation_p.E172Q|REEP1_uc010yth.1_Missense_Mutation_p.E166Q|REEP1_uc010yti.1_Silent_p.L114L	NM_022912	NP_075063	Q9H902	REEP1_HUMAN	receptor accessory protein 1 isoform 2	193					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding				0														0.321429	60.330912	61.916562	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86459766	86459766	13673	2	C	G	G	G	377	29	REEP1	3	3
PROM2	150696	broad.mit.edu	37	2	95941810	95941810	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95941810G>A	uc002suh.1	+	c.427G>A	c.(427-429)GAG>AAG	p.E143K	PROM2_uc002sui.2_Missense_Mutation_p.E143K|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.E143K|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	143	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.1	2.867691	9.263329	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95941810	95941810	12999	2	G	A	A	A	429	33	PROM2	2	2
SENP7	57337	broad.mit.edu	37	3	101080669	101080669	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101080669C>A	uc003dut.2	-	c.1513G>T	c.(1513-1515)GAG>TAG	p.E505*	SENP7_uc003duu.2_Nonsense_Mutation_p.E440*|SENP7_uc003duv.2_Nonsense_Mutation_p.E472*|SENP7_uc003duw.2_Nonsense_Mutation_p.E439*|SENP7_uc003dux.2_Nonsense_Mutation_p.E341*	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	505					proteolysis	nucleus	cysteine-type peptidase activity			ovary(2)|lung(1)	3														0.211538	22.295484	26.298213	11	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101080669	101080669	14537	3	C	A	A	A	390	30	SENP7	5	2
DZIP3	9666	broad.mit.edu	37	3	108353817	108353817	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108353817C>T	uc003dxd.2	+	c.916C>T	c.(916-918)CAG>TAG	p.Q306*	DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q306*|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Nonsense_Mutation_p.Q306*|DZIP3_uc003dxg.1_Nonsense_Mutation_p.Q29*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	306					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.318182	18.115713	18.762986	7	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108353817	108353817	5051	3	C	T	T	T	377	29	DZIP3	5	2
VEPH1	79674	broad.mit.edu	37	3	157131778	157131778	+	Silent	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:157131778T>A	uc003fbj.1	-	c.798A>T	c.(796-798)CCA>CCT	p.P266P	VEPH1_uc003fbk.1_Silent_p.P266P|VEPH1_uc010hvu.1_Silent_p.P266P	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	266						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)											0.347222	76.454898	77.937656	25	47	KEEP	---	---	---	---	capture		Silent	SNP	157131778	157131778	17721	3	T	A	A	A	704	55	VEPH1	3	3
NCKIPSD	51517	broad.mit.edu	37	3	48719041	48719041	+	Silent	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48719041T>C	uc003cun.2	-	c.771A>G	c.(769-771)CAA>CAG	p.Q257Q	NCKIPSD_uc003cum.2_Silent_p.Q250Q|NCKIPSD_uc010hkh.1_Silent_p.Q257Q	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	257	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)						56				0.337209	94.494409	96.488269	29	57	KEEP	---	---	---	---	capture		Silent	SNP	48719041	48719041	10624	3	T	C	C	C	725	56	NCKIPSD	4	4
USP4	7375	broad.mit.edu	37	3	49329950	49329950	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49329950G>T	uc003cwq.2	-	c.1965C>A	c.(1963-1965)AGC>AGA	p.S655R	USP4_uc003cwo.2_Missense_Mutation_p.S367R|USP4_uc003cwp.2_Missense_Mutation_p.S385R|USP4_uc003cwr.2_Missense_Mutation_p.S608R	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	655					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)	3		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)										0.5	20.823989	20.823989	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49329950	49329950	17635	3	G	T	T	T	438	34	USP4	2	2
BSN	8927	broad.mit.edu	37	3	49692179	49692179	+	Silent	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49692179C>G	uc003cxe.3	+	c.5190C>G	c.(5188-5190)ACC>ACG	p.T1730T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1730					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.36755	333.143652	337.802026	111	191	KEEP	---	---	---	---	capture		Silent	SNP	49692179	49692179	1561	3	C	G	G	G	262	21	BSN	3	3
PBRM1	55193	broad.mit.edu	37	3	52651531	52651531	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52651531C>A	uc003des.2	-	c.1565G>T	c.(1564-1566)CGA>CTA	p.R522L	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R522L|PBRM1_uc003der.2_Missense_Mutation_p.R490L|PBRM1_uc003det.2_Missense_Mutation_p.R537L|PBRM1_uc003deu.2_Missense_Mutation_p.R537L|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R522L|PBRM1_uc010hmk.1_Missense_Mutation_p.R522L|PBRM1_uc003dey.2_Missense_Mutation_p.R522L|PBRM1_uc003dez.1_Missense_Mutation_p.R522L|PBRM1_uc003dfb.1_Missense_Mutation_p.R435L|PBRM1_uc003dfc.2_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	522					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.T435fs*3(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)										0.325	77.822766	79.996596	26	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52651531	52651531	11911	3	C	A	A	A	403	31	PBRM1	1	1
INTS12	57117	broad.mit.edu	37	4	106621161	106621161	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106621161A>G	uc003hxw.2	-	c.2T>C	c.(1-3)ATG>ACG	p.M1T	INTS12_uc010ilr.2_Missense_Mutation_p.M1T	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	1					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)										0.271084	136.909526	144.748675	45	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106621161	106621161	8078	4	A	G	G	G	104	8	INTS12	4	4
GAR1	54433	broad.mit.edu	37	4	110739126	110739126	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110739126C>G	uc003hzt.2	+	c.249C>G	c.(247-249)GAC>GAG	p.D83E	GAR1_uc003hzu.2_Missense_Mutation_p.D83E|GAR1_uc010imh.1_Missense_Mutation_p.D83E|GAR1_uc010imi.2_Missense_Mutation_p.D83E	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	83					rRNA processing	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0														0.242187	100.359779	108.117622	31	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110739126	110739126	6504	4	C	G	G	G	220	17	GAR1	3	3
ANK2	287	broad.mit.edu	37	4	114278296	114278296	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114278296G>T	uc003ibe.3	+	c.8522G>T	c.(8521-8523)AGT>ATT	p.S2841I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S143I|ANK2_uc011cgb.1_Missense_Mutation_p.S2856I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2808					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.247967	160.119749	174.369117	61	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114278296	114278296	624	4	G	T	T	T	468	36	ANK2	2	2
ANK2	287	broad.mit.edu	37	4	114279468	114279468	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114279468G>C	uc003ibe.3	+	c.9694G>C	c.(9694-9696)GAT>CAT	p.D3232H	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.D534H|ANK2_uc011cgb.1_Missense_Mutation_p.D3247H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3199					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.242236	112.251398	122.005355	39	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114279468	114279468	624	4	G	C	C	C	585	45	ANK2	3	3
NDST4	64579	broad.mit.edu	37	4	115998178	115998178	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115998178C>T	uc003ibu.2	-	c.15G>A	c.(13-15)GTG>GTA	p.V5V	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	5	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.3	15.240814	15.956424	6	14	KEEP	---	---	---	---	capture		Silent	SNP	115998178	115998178	10657	4	C	T	T	T	366	29	NDST4	2	2
C4orf31	79625	broad.mit.edu	37	4	121961148	121961148	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:121961148C>A	uc003idq.1	-	c.250G>T	c.(250-252)GCG>TCG	p.A84S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	84											0														0.239316	62.931493	70.201911	28	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121961148	121961148	2356	4	C	A	A	A	325	25	C4orf31	2	2
FAT4	79633	broad.mit.edu	37	4	126373678	126373678	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126373678T>A	uc003ifj.3	+	c.11507T>A	c.(11506-11508)ATC>AAC	p.I3836N	FAT4_uc011cgp.1_Missense_Mutation_p.I2134N|FAT4_uc003ifi.1_Missense_Mutation_p.I1314N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3836	Extracellular (Potential).|EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.191176	29.438284	35.496119	13	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126373678	126373678	5928	4	T	A	A	A	650	50	FAT4	3	3
PCDH10	57575	broad.mit.edu	37	4	134073342	134073342	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134073342G>C	uc003iha.2	+	c.2047G>C	c.(2047-2049)GTG>CTG	p.V683L	PCDH10_uc003igz.2_Missense_Mutation_p.V683L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	683	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.090909	3.473644	10.889098	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073342	134073342	11927	4	G	C	C	C	520	40	PCDH10	3	3
RNF150	57484	broad.mit.edu	37	4	142053706	142053706	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:142053706G>T	uc003iio.1	-	c.257C>A	c.(256-258)GCC>GAC	p.A86D	RNF150_uc010iok.1_Missense_Mutation_p.A86D|RNF150_uc003iip.1_Missense_Mutation_p.A86D	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	86	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)													0.333333	16.242973	16.686298	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142053706	142053706	13928	4	G	T	T	T	546	42	RNF150	2	2
DCHS2	54798	broad.mit.edu	37	4	155180838	155180838	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155180838T>A	uc003inw.2	-	c.5283A>T	c.(5281-5283)TTA>TTT	p.L1761F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1761	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.229299	86.723331	97.269688	36	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155180838	155180838	4459	4	T	A	A	A	686	53	DCHS2	3	3
GRIA2	2891	broad.mit.edu	37	4	158284035	158284035	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158284035G>A	uc003ipm.3	+	c.2491G>A	c.(2491-2493)GCT>ACT	p.A831T	GRIA2_uc011cit.1_Missense_Mutation_p.A784T|GRIA2_uc003ipl.3_Missense_Mutation_p.A831T|GRIA2_uc003ipk.3_Missense_Mutation_p.A784T|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	831	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.267327	68.377692	73.316872	27	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158284035	158284035	7046	4	G	A	A	A	546	42	GRIA2	2	2
NPY5R	4889	broad.mit.edu	37	4	164271983	164271983	+	Silent	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164271983A>T	uc003iqn.2	+	c.558A>T	c.(556-558)ACA>ACT	p.T186T		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	186	Extracellular (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.263636	249.300375	265.953553	87	243	KEEP	---	---	---	---	capture		Silent	SNP	164271983	164271983	11015	4	A	T	T	T	93	8	NPY5R	3	3
TKTL2	84076	broad.mit.edu	37	4	164393680	164393680	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164393680G>T	uc003iqp.3	-	c.1207C>A	c.(1207-1209)CAG>AAG	p.Q403K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	403						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.395833	51.40912	51.866545	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164393680	164393680	16465	4	G	T	T	T	585	45	TKTL2	2	2
TLL1	7092	broad.mit.edu	37	4	167012328	167012328	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167012328C>A	uc011cjn.1	+	c.2560C>A	c.(2560-2562)CAC>AAC	p.H854N	TLL1_uc003irh.1_Missense_Mutation_p.H831N|TLL1_uc011cjo.1_Missense_Mutation_p.H655N	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	831	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)										0.285714	50.719275	53.642656	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167012328	167012328	16475	4	C	A	A	A	273	21	TLL1	2	2
PCDH7	5099	broad.mit.edu	37	4	30725202	30725202	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30725202C>T	uc011bxx.1	+	c.2158C>T	c.(2158-2160)CCT>TCT	p.P720S	PCDH7_uc011bxw.1_Missense_Mutation_p.P673S|PCDH7_uc003gsk.1_Missense_Mutation_p.P720S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	720	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.220859	74.071474	85.837695	36	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30725202	30725202	11936	4	C	T	T	T	390	30	PCDH7	2	2
FIP1L1	81608	broad.mit.edu	37	4	54294193	54294193	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54294193G>T	uc003gzy.2	+	c.1018_splice	c.e13-1	p.V340_splice	PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Splice_Site_SNP_p.V325_splice|FIP1L1_uc011bzt.1_Splice_Site_SNP_p.V304_splice|FIP1L1_uc011bzu.1_Splice_Site_SNP_p.V325_splice|FIP1L1_uc003gzz.2_Splice_Site_SNP_p.V266_splice|FIP1L1_uc003hab.2_Splice_Site_SNP_p.V305_splice|FIP1L1_uc003hac.2_Splice_Site_SNP_p.V85_splice|FIP1L1_uc010ign.2_Splice_Site_SNP|FIP1L1_uc003had.2_Splice_Site_SNP|FIP1L1_uc003hae.2_5'Flank	NM_030917	NP_112179			FIP1 like 1 isoform 1						mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)							17				0.212766	21.519806	25.107523	10	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54294193	54294193	6134	4	G	T	T	T	455	35	FIP1L1	5	2
POLR2B	5431	broad.mit.edu	37	4	57873091	57873091	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57873091G>T	uc003hcl.1	+	c.1327G>T	c.(1327-1329)GGC>TGC	p.G443C	POLR2B_uc011cae.1_Missense_Mutation_p.G436C|POLR2B_uc011caf.1_Missense_Mutation_p.G368C|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	443					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.190476	42.732386	52.141342	20	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57873091	57873091	12643	4	G	T	T	T	611	47	POLR2B	2	2
LPHN3	23284	broad.mit.edu	37	4	62758579	62758579	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62758579C>T	uc010ihh.2	+	c.1482C>T	c.(1480-1482)CTC>CTT	p.L494L	LPHN3_uc003hcq.3_Silent_p.L494L|LPHN3_uc003hcs.1_Silent_p.L323L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	494	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.207547	24.598402	28.796361	11	42	KEEP	---	---	---	---	capture		Silent	SNP	62758579	62758579	9290	4	C	T	T	T	392	31	LPHN3	1	1
COX18	285521	broad.mit.edu	37	4	73931122	73931122	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73931122T>A	uc011cbc.1	-	c.443A>T	c.(442-444)TAT>TTT	p.Y148F	COX18_uc003hgm.1_Missense_Mutation_p.Y148F|COX18_uc003hgn.1_5'UTR|COX18_uc010iih.1_Missense_Mutation_p.Y148F	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	148					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.226562	71.41691	80.197805	29	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73931122	73931122	3905	4	T	A	A	A	637	49	COX18	3	3
PCDHA1	56147	broad.mit.edu	37	5	140167783	140167783	+	Silent	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140167783C>G	uc003lhb.2	+	c.1908C>G	c.(1906-1908)GTC>GTG	p.V636V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.V636V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	636	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.343511	146.823972	149.662855	45	86	KEEP	---	---	---	---	capture		Silent	SNP	140167783	140167783	11939	5	C	G	G	G	379	30	PCDHA1	3	3
PCDHGA1	56114	broad.mit.edu	37	5	140712593	140712593	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140712593G>T	uc003lji.1	+	c.2342G>T	c.(2341-2343)AGC>ATC	p.S781I	PCDHGA1_uc011dan.1_Missense_Mutation_p.S781I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	781	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.118343	20.574052	44.791642	20	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140712593	140712593	11970	5	G	T	T	T	442	34	PCDHGA1	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140773060	140773060	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140773060G>A	uc003lkd.1	+	c.680G>A	c.(679-681)CGC>CAC	p.R227H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R227H	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	227	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.40367	126.280226	127.163486	44	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140773060	140773060	11980	5	G	A	A	A	494	38	PCDHGA8	1	1
YIPF5	81555	broad.mit.edu	37	5	143541875	143541875	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:143541875G>A	uc003lnk.3	-	c.518C>T	c.(517-519)ACA>ATA	p.T173I	YIPF5_uc003lnl.3_Missense_Mutation_p.T173I|YIPF5_uc010jgl.2_Missense_Mutation_p.T119I	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	173	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)											0.351064	88.838904	90.681652	33	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143541875	143541875	18064	5	G	A	A	A	624	48	YIPF5	2	2
SPINK5	11005	broad.mit.edu	37	5	147491409	147491409	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147491409C>G	uc003loy.2	+	c.1771C>G	c.(1771-1773)CTA>GTA	p.L591V	SPINK5_uc010jgs.1_Missense_Mutation_p.L563V|SPINK5_uc010jgr.2_Missense_Mutation_p.L572V|SPINK5_uc003low.2_Missense_Mutation_p.L591V|SPINK5_uc003lox.2_Missense_Mutation_p.L591V	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	591	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.336134	137.46562	140.291383	40	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147491409	147491409	15574	5	C	G	G	G	415	32	SPINK5	3	3
NMUR2	56923	broad.mit.edu	37	5	151784306	151784306	+	Silent	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784306C>G	uc003luv.2	-	c.369G>C	c.(367-369)ACG>ACC	p.T123T		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	123	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.358974	164.982108	167.74506	56	100	KEEP	---	---	---	---	capture		Silent	SNP	151784306	151784306	10910	5	C	G	G	G	288	23	NMUR2	3	3
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160763740C>A	uc003lys.1	-	c.578G>T	c.(577-579)CGT>CTT	p.R193L	GABRB2_uc011deh.1_Missense_Mutation_p.R32L|GABRB2_uc003lyr.1_Missense_Mutation_p.R193L|GABRB2_uc003lyt.1_Missense_Mutation_p.R193L|GABRB2_uc010jiu.1_Missense_Mutation_p.R130L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	193	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.168675	29.697734	38.32531	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160763740	160763740	6418	5	C	A	A	A	247	19	GABRB2	1	1
FOXI1	2299	broad.mit.edu	37	5	169535247	169535247	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169535247C>A	uc003mai.3	+	c.769C>A	c.(769-771)CCA>ACA	p.P257T	FOXI1_uc003maj.3_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	257					epidermal cell fate specification|negative regulation of gene-specific transcription from RNA polymerase II promoter|otic placode formation|pattern specification process|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.361111	111.692024	113.527114	39	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169535247	169535247	6254	5	C	A	A	A	234	18	FOXI1	2	2
RNASEN	29102	broad.mit.edu	37	5	31401639	31401639	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31401639C>A	uc003jhg.2	-	c.4025G>T	c.(4024-4026)CGG>CTG	p.R1342L	RNASEN_uc003jhh.2_Missense_Mutation_p.R1305L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1342	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0														0.096296	8.876874	30.940445	13	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31401639	31401639	13894	5	C	A	A	A	299	23	RNASEN	1	1
RNASEN	29102	broad.mit.edu	37	5	31421442	31421442	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31421442C>T	uc003jhg.2	-	c.3462G>A	c.(3460-3462)ATG>ATA	p.M1154I	RNASEN_uc003jhh.2_Missense_Mutation_p.M1117I|RNASEN_uc003jhi.2_Missense_Mutation_p.M1117I	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1154	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0														0.234043	92.587756	104.772767	44	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31421442	31421442	13894	5	C	T	T	T	325	25	RNASEN	2	2
C5orf42	65250	broad.mit.edu	37	5	37107805	37107805	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37107805T>G	uc011cpa.1	-	c.9493A>C	c.(9493-9495)ACT>CCT	p.T3165P	C5orf42_uc003jko.1_Missense_Mutation_p.T196P|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.T1683P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T2258P	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	2078										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.475	65.616538	65.638476	19	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37107805	37107805	2399	5	T	G	G	G	767	59	C5orf42	4	4
C5orf42	65250	broad.mit.edu	37	5	37183222	37183222	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37183222T>A	uc011cpa.1	-	c.5061A>T	c.(5059-5061)AAA>AAT	p.K1687N	C5orf42_uc011coy.1_Missense_Mutation_p.K188N|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.K762N|C5orf42_uc011cpb.1_Missense_Mutation_p.K568N	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	600										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.072289	-3.718807	11.917009	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37183222	37183222	2399	5	T	A	A	A	829	64	C5orf42	3	3
HEATR7B2	133558	broad.mit.edu	37	5	41004585	41004585	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41004585G>T	uc003jmj.3	-	c.4057C>A	c.(4057-4059)CTG>ATG	p.L1353M	HEATR7B2_uc003jmi.3_Missense_Mutation_p.L908M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1353							binding			ovary(6)|central_nervous_system(2)	8														0.192	50.119359	61.202996	24	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41004585	41004585	7318	5	G	T	T	T	451	35	HEATR7B2	2	2
C6	729	broad.mit.edu	37	5	41186284	41186284	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41186284C>A	uc003jmk.2	-	c.614G>T	c.(613-615)AGA>ATA	p.R205I	C6_uc003jml.1_Missense_Mutation_p.R205I	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	205	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)	5		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)												0.213115	27.840884	32.480611	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41186284	41186284	2416	5	C	A	A	A	416	32	C6	2	2
IPO11	51194	broad.mit.edu	37	5	61922992	61922992	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:61922992G>A	uc011cqr.1	+	c.2895G>A	c.(2893-2895)AAG>AAA	p.K965K	IPO11_uc003jtc.2_Silent_p.K925K|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Silent_p.K44K	NM_001134779	NP_001128251	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 1	925						cytoplasm|nucleus	protein binding			lung(2)|skin(1)	3		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)										0.362069	66.160547	67.131103	21	37	KEEP	---	---	---	---	capture		Silent	SNP	61922992	61922992	8094	5	G	A	A	A	451	35	IPO11	2	2
MAST4	375449	broad.mit.edu	37	5	66406002	66406002	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66406002G>T	uc003jut.1	+	c.866G>T	c.(865-867)CGC>CTC	p.R289L	MAST4_uc003jus.2_Missense_Mutation_p.R289L|MAST4_uc003juu.1_Missense_Mutation_p.R299L|MAST4_uc011cra.1_Missense_Mutation_p.R272L|MAST4_uc003juv.2_Missense_Mutation_p.R284L|MAST4_uc003juw.2_Missense_Mutation_p.R284L	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	481					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)					p.R289H(SNGM-Tumor)	805				0.396226	129.943157	130.93693	42	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66406002	66406002	9711	5	G	T	T	T	494	38	MAST4	1	1
GRM1	2911	broad.mit.edu	37	6	146720582	146720582	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720582C>T	uc010khw.1	+	c.2407C>T	c.(2407-2409)CCC>TCC	p.P803S	GRM1_uc010khv.1_Missense_Mutation_p.P803S|GRM1_uc003qll.2_Missense_Mutation_p.P803S|GRM1_uc011edz.1_Missense_Mutation_p.P803S|GRM1_uc011eea.1_Missense_Mutation_p.P803S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	803	Helical; Name=6; (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)									0.313725	85.565564	88.713961	32	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720582	146720582	7075	6	C	T	T	T	338	26	GRM1	2	2
ARID1B	57492	broad.mit.edu	37	6	157502244	157502244	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:157502244G>C	uc003qqn.2	+	c.3223G>C	c.(3223-3225)GTG>CTG	p.V1075L	ARID1B_uc003qqo.2_Missense_Mutation_p.V1035L|ARID1B_uc003qqp.2_Missense_Mutation_p.V1022L|ARID1B_uc010kjl.2_Missense_Mutation_p.V220L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1080	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)	1		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)										0.510638	86.809347	86.81432	24	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157502244	157502244	929	6	G	C	C	C	520	40	ARID1B	3	3
THBS2	7058	broad.mit.edu	37	6	169648695	169648695	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169648695G>T	uc003qwt.2	-	c.426C>A	c.(424-426)GTC>GTA	p.V142V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	142	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.285714	75.65813	79.697407	28	70	KEEP	---	---	---	---	capture		Silent	SNP	169648695	169648695	16382	6	G	T	T	T	470	37	THBS2	1	1
OR10C1	442194	broad.mit.edu	37	6	29408140	29408140	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29408140C>T	uc011dlp.1	+	c.348C>T	c.(346-348)GCC>GCT	p.A116A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q6IFQ5	Q6IFQ5_HUMAN	olfactory receptor, family 10, subfamily C,	116						integral to membrane	olfactory receptor activity				0														0.426667	91.293223	91.642562	32	43	KEEP	---	---	---	---	capture		Silent	SNP	29408140	29408140	11304	6	C	T	T	T	262	21	OR10C1	2	2
TRIM40	135644	broad.mit.edu	37	6	30113788	30113788	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30113788G>A	uc003npk.2	+	c.363G>A	c.(361-363)CGG>CGA	p.R121R	TRIM40_uc003npm.2_Silent_p.R121R	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	tripartite motif-containing 40	121	Potential.					intracellular	zinc ion binding			ovary(1)	1														0.326087	41.208331	42.44306	15	31	KEEP	---	---	---	---	capture		Silent	SNP	30113788	30113788	17059	6	G	A	A	A	522	41	TRIM40	2	2
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32188210G>T	uc003obb.2	-	c.1131C>A	c.(1129-1131)TTC>TTA	p.F377L	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript|NOTCH4_uc003obc.2_Missense_Mutation_p.F377L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	377	EGF-like 9; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.381579	215.503681	218.328455	87	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32188210	32188210	10954	6	G	T	T	T	425	33	NOTCH4	2	2
XPO5	57510	broad.mit.edu	37	6	43538674	43538674	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43538674C>T	uc003ovp.2	-	c.358G>A	c.(358-360)GTA>ATA	p.V120I		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	120					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)							509				0.353448	107.730643	109.931473	41	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43538674	43538674	18030	6	C	T	T	T	221	17	XPO5	2	2
PKHD1	5314	broad.mit.edu	37	6	51612586	51612586	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51612586T>A	uc003pah.1	-	c.9828A>T	c.(9826-9828)CAA>CAT	p.Q3276H	PKHD1_uc010jzn.1_Missense_Mutation_p.Q1259H|PKHD1_uc003pai.2_Missense_Mutation_p.Q3276H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3276	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.45	81.616714	81.747539	27	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51612586	51612586	12396	6	T	A	A	A	725	56	PKHD1	3	3
PKHD1	5314	broad.mit.edu	37	6	51921691	51921691	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51921691A>T	uc003pah.1	-	c.1599T>A	c.(1597-1599)CAT>CAA	p.H533Q	PKHD1_uc003pai.2_Missense_Mutation_p.H533Q	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	533	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.372881	65.836786	66.67347	22	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51921691	51921691	12396	6	A	T	T	T	154	12	PKHD1	3	3
PHF3	23469	broad.mit.edu	37	6	64421087	64421087	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:64421087C>A	uc003pep.1	+	c.3826C>A	c.(3826-3828)CCA>ACA	p.P1276T	PHF3_uc003pen.2_Missense_Mutation_p.P1188T|PHF3_uc011dxs.1_Missense_Mutation_p.P545T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1276					multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GBM(135;136 1820 29512 34071 46235)				350				0.410256	50.590889	50.865787	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64421087	64421087	12259	6	C	A	A	A	234	18	PHF3	2	2
RIMS1	22999	broad.mit.edu	37	6	72678738	72678738	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72678738G>C	uc003pga.2	+	c.217G>C	c.(217-219)GCT>CCT	p.A73P		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	73	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.067568	-0.587709	13.739274	5	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72678738	72678738	13844	6	G	C	C	C	598	46	RIMS1	3	3
CYB5R4	51167	broad.mit.edu	37	6	84650320	84650320	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84650320G>T	uc003pkf.2	+	c.1346G>T	c.(1345-1347)AGA>ATA	p.R449I		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	449					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|oxidation-reduction process|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		Esophageal Squamous(86;1289 1332 25971 40349 52675)				343				0.5	32.822545	32.822545	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84650320	84650320	4294	6	G	T	T	T	455	35	CYB5R4	2	2
MANEA	79694	broad.mit.edu	37	6	96034410	96034410	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96034410A>G	uc003poo.1	+	c.95A>G	c.(94-96)AAT>AGT	p.N32S	MANEA_uc003pon.2_Missense_Mutation_p.N32S	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	32	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)										0.097826	11.10761	26.000143	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96034410	96034410	9604	6	A	G	G	G	52	4	MANEA	4	4
POT1	25913	broad.mit.edu	37	7	124503667	124503667	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124503667C>A	uc003vlm.2	-	c.283G>T	c.(283-285)GGT>TGT	p.G95C	POT1_uc011koe.1_Non-coding_Transcript|POT1_uc003vlk.2_Non-coding_Transcript|POT1_uc003vll.2_Non-coding_Transcript|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_Non-coding_Transcript	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	95					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)								0.194175	37.566734	46.663506	20	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124503667	124503667	12689	7	C	A	A	A	286	22	POT1	2	2
FAM180A	389558	broad.mit.edu	37	7	135418863	135418863	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135418863G>A	uc003vtd.2	-	c.382C>T	c.(382-384)CTG>TTG	p.L128L	FAM180A_uc010lmt.2_Non-coding_Transcript|FAM180A_uc010lmu.2_Silent_p.L128L	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	128						extracellular region				ovary(2)	2														0.169643	37.756423	49.323534	19	93	KEEP	---	---	---	---	capture		Silent	SNP	135418863	135418863	5713	7	G	A	A	A	438	34	FAM180A	2	2
ABCB5	340273	broad.mit.edu	37	7	20782586	20782586	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20782586C>A	uc010kuh.2	+	c.3111C>A	c.(3109-3111)TCC>TCA	p.S1037S	ABCB5_uc003suw.3_Silent_p.S592S	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	592	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.132075	16.971159	30.91979	14	92	KEEP	---	---	---	---	capture		Silent	SNP	20782586	20782586	45	7	C	A	A	A	275	22	ABCB5	2	2
ABCB5	340273	broad.mit.edu	37	7	20784894	20784894	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20784894T>C	uc010kuh.2	+	c.3262T>C	c.(3262-3264)TGG>CGG	p.W1088R	ABCB5_uc003suw.3_Missense_Mutation_p.W643R	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	643	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.206897	36.999265	44.073084	18	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20784894	20784894	45	7	T	C	C	C	767	59	ABCB5	4	4
DNAH11	8701	broad.mit.edu	37	7	21775402	21775402	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21775402G>T	uc003svc.2	+	c.7606G>T	c.(7606-7608)GAG>TAG	p.E2536*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2536	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.166667	34.238844	45.572197	18	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21775402	21775402	4781	7	G	T	T	T	585	45	DNAH11	5	2
HNRNPA2B1	3181	broad.mit.edu	37	7	26235526	26235526	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:26235526C>G	uc003sxr.3	-	c.698G>C	c.(697-699)GGA>GCA	p.G233A	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G221A	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	233	Gly-rich.				nuclear mRNA splicing, via spliceosome|RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)	1										717				0.12	12.311814	19.395476	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26235526	26235526	7551	7	C	G	G	G	390	30	HNRNPA2B1	3	3
HOXA3	3200	broad.mit.edu	37	7	27147988	27147988	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27147988G>T	uc011jzl.1	-	c.878C>A	c.(877-879)TCG>TAG	p.S293*	HOXA3_uc011jzk.1_Nonsense_Mutation_p.S135*|HOXA3_uc003syk.2_Nonsense_Mutation_p.S293*	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	293					angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(2)	2						Esophageal Squamous(136;1368 1743 5685 7935 50360)								0.101266	5.299239	17.785435	8	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27147988	27147988	7585	7	G	T	T	T	481	37	HOXA3	5	1
HOXA5	3202	broad.mit.edu	37	7	27181467	27181467	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27181467G>T	uc003syn.1	-	c.800C>A	c.(799-801)GCC>GAC	p.A267D		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	267					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)						OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.080645	-2.292927	19.801155	10	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27181467	27181467	7587	7	G	T	T	T	546	42	HOXA5	2	2
AMPH	273	broad.mit.edu	37	7	38514960	38514960	+	Silent	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38514960T>C	uc003tgu.2	-	c.561A>G	c.(559-561)TTA>TTG	p.L187L	AMPH_uc003tgv.2_Silent_p.L187L	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	187	BAR.|Potential.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.171429	13.825577	17.403977	6	29	KEEP	---	---	---	---	capture		Silent	SNP	38514960	38514960	591	7	T	C	C	C	738	57	AMPH	4	4
ABCA13	154664	broad.mit.edu	37	7	48335346	48335346	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48335346T>G	uc003toq.2	+	c.9005T>G	c.(9004-9006)CTT>CGT	p.L3002R	ABCA13_uc010kys.1_Missense_Mutation_p.L76R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3002					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.080882	0.732958	49.448932	22	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48335346	48335346	32	7	T	G	G	G	728	56	ABCA13	4	4
EGFR	1956	broad.mit.edu	37	7	55227926	55227926	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55227926G>A	uc003tqk.2	+	c.1393G>A	c.(1393-1395)GGA>AGA	p.G465R	EGFR_uc003tqi.2_Missense_Mutation_p.G465R|EGFR_uc003tqj.2_Missense_Mutation_p.G465R|EGFR_uc010kzg.1_Missense_Mutation_p.G420R|EGFR_uc011kco.1_Missense_Mutation_p.G412R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	465	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.277778	104.170666	109.768687	35	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55227926	55227926	5156	7	G	A	A	A	455	35	EGFR	2	2
ZNF479	90827	broad.mit.edu	37	7	57187793	57187793	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57187793G>T	uc010kzo.2	-	c.1329C>A	c.(1327-1329)GGC>GGA	p.G443G		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	443	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.257426	65.226478	70.598412	26	75	KEEP	---	---	---	---	capture		Silent	SNP	57187793	57187793	18527	7	G	T	T	T	587	46	ZNF479	2	2
AKAP9	10142	broad.mit.edu	37	7	91708472	91708472	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91708472A>G	uc003ulg.2	+	c.7025A>G	c.(7024-7026)AAG>AGG	p.K2342R	AKAP9_uc003ulf.2_Missense_Mutation_p.K2334R|AKAP9_uc003uli.2_Missense_Mutation_p.K1965R|AKAP9_uc003ulj.2_Missense_Mutation_p.K112R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2354	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.740113	530.531761	539.801596	131	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91708472	91708472	462	7	A	G	G	G	39	3	AKAP9	4	4
OCM2	4951	broad.mit.edu	37	7	97619394	97619394	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97619394C>A	uc003upc.2	-	c.23G>T	c.(22-24)AGT>ATT	p.S8I		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	8							calcium ion binding				0														0.138298	16.699778	28.612174	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97619394	97619394	11227	7	C	A	A	A	260	20	OCM2	2	2
WDR67	93594	broad.mit.edu	37	8	124138862	124138862	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124138862G>A	uc003ypp.1	+	c.1819G>A	c.(1819-1821)GTT>ATT	p.V607I	WDR67_uc011lig.1_Missense_Mutation_p.V607I|WDR67_uc011lih.1_Missense_Mutation_p.V497I|WDR67_uc003ypq.1_Non-coding_Transcript|WDR67_uc003yps.1_Missense_Mutation_p.V320I|WDR67_uc003ypt.1_Missense_Mutation_p.V64I|WDR67_uc003ypu.1_Missense_Mutation_p.V64I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	607						intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)											0.136364	19.947135	36.874161	18	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124138862	124138862	17891	8	G	A	A	A	624	48	WDR67	2	2
ZNF572	137209	broad.mit.edu	37	8	125987892	125987892	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125987892G>C	uc003yrr.2	+	c.10G>C	c.(10-12)GAA>CAA	p.E4Q		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.151261	40.375027	54.233276	18	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125987892	125987892	18599	8	G	C	C	C	429	33	ZNF572	3	3
PLEC	5339	broad.mit.edu	37	8	144997574	144997574	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144997574C>T	uc003zaf.1	-	c.6934G>A	c.(6934-6936)GAG>AAG	p.E2312K	PLEC_uc003zab.1_Missense_Mutation_p.E2175K|PLEC_uc003zac.1_Missense_Mutation_p.E2179K|PLEC_uc003zad.2_Missense_Mutation_p.E2175K|PLEC_uc003zae.1_Missense_Mutation_p.E2143K|PLEC_uc003zag.1_Missense_Mutation_p.E2153K|PLEC_uc003zah.2_Missense_Mutation_p.E2161K|PLEC_uc003zaj.2_Missense_Mutation_p.E2202K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2312	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.125	4.777882	9.174784	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144997574	144997574	12478	8	C	T	T	T	403	31	PLEC	1	1
CSMD1	64478	broad.mit.edu	37	8	2820157	2820157	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2820157C>A	uc011kwk.1	-	c.9462G>T	c.(9460-9462)GTG>GTT	p.V3154V	CSMD1_uc011kwj.1_Silent_p.V2483V|CSMD1_uc010lrg.2_Silent_p.V1045V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3154	Extracellular (Potential).|Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.413793	36.893939	37.08239	12	17	KEEP	---	---	---	---	capture		Silent	SNP	2820157	2820157	4085	8	C	A	A	A	210	17	CSMD1	2	2
WHSC1L1	54904	broad.mit.edu	37	8	38162187	38162187	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38162187G>A	uc003xli.2	-	c.2529C>T	c.(2527-2529)TAC>TAT	p.Y843Y	WHSC1L1_uc011lbm.1_Silent_p.Y843Y|WHSC1L1_uc010lwe.2_Silent_p.Y843Y	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	843					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)							521				0.197452	60.215131	73.623355	31	126	KEEP	---	---	---	---	capture		Silent	SNP	38162187	38162187	17937	8	G	A	A	A	620	48	WHSC1L1	2	2
ADAM2	2515	broad.mit.edu	37	8	39604102	39604102	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39604102G>A	uc003xnj.2	-	c.2063C>T	c.(2062-2064)CCA>CTA	p.P688L	ADAM2_uc003xnk.2_Missense_Mutation_p.P669L|ADAM2_uc011lck.1_Missense_Mutation_p.P625L|ADAM2_uc003xnl.2_Missense_Mutation_p.P532L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	688	Helical; (Potential).				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.246154	42.468601	46.281421	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39604102	39604102	242	8	G	A	A	A	611	47	ADAM2	2	2
PLAT	5327	broad.mit.edu	37	8	42036484	42036484	+	Silent	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42036484G>T	uc003xos.2	-	c.1461C>A	c.(1459-1461)ACC>ACA	p.T487T	PLAT_uc010lxf.1_Silent_p.T404T|PLAT_uc010lxg.1_Silent_p.T312T|PLAT_uc003xot.2_Silent_p.T441T|PLAT_uc011lcm.1_Silent_p.T398T|PLAT_uc011lcn.1_Silent_p.T361T	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	487	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)				p.T487T(A253-Tumor)	176				0.138122	40.743347	63.588035	25	156	KEEP	---	---	---	---	capture		Silent	SNP	42036484	42036484	12447	8	G	T	T	T	496	39	PLAT	1	1
TOX	9760	broad.mit.edu	37	8	59851894	59851894	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59851894C>A	uc003xtw.1	-	c.378G>T	c.(376-378)CAG>CAT	p.Q126H		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	126						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				Pancreas(161;610 1969 17913 21374 22725)				158				0.157025	29.940138	43.535914	19	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59851894	59851894	16919	8	C	A	A	A	311	24	TOX	2	2
NECAB1	64168	broad.mit.edu	37	8	91962079	91962079	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:91962079A>G	uc011lgg.1	+	c.905A>G	c.(904-906)TAT>TGT	p.Y302C	NECAB1_uc003yer.2_Missense_Mutation_p.Y51C	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	302	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)											0.368421	24.219258	24.508649	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91962079	91962079	10703	8	A	G	G	G	208	16	NECAB1	4	4
TDRD7	23424	broad.mit.edu	37	9	100190940	100190940	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100190940A>T	uc004axj.2	+	c.193A>T	c.(193-195)AGT>TGT	p.S65C	TDRD7_uc011lux.1_Intron	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	65	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.24359	47.487201	52.160429	19	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100190940	100190940	16262	9	A	T	T	T	195	15	TDRD7	3	3
CYLC2	1539	broad.mit.edu	37	9	105767708	105767708	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105767708G>C	uc004bbs.2	+	c.795G>C	c.(793-795)AAG>AAC	p.K265N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	265	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.133333	11.016734	16.88969	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105767708	105767708	4307	9	G	C	C	C	451	35	CYLC2	3	3
RGS3	5998	broad.mit.edu	37	9	116269565	116269565	+	Splice_Site_SNP	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116269565A>G	uc004bhq.2	+	c.1086_splice	c.e14-2	p.R362_splice	RGS3_uc004bhr.2_Splice_Site_SNP_p.R250_splice|RGS3_uc004bhs.2_Splice_Site_SNP_p.R252_splice|RGS3_uc004bht.2_Splice_Site_SNP_p.R81_splice|RGS3_uc010muy.2_Splice_Site_SNP_p.R81_splice|RGS3_uc004bhu.2_Splice_Site_SNP	NM_144488	NP_652759			regulator of G-protein signalling 3 isoform 6						inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3														0.222222	18.884326	21.437262	8	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	116269565	116269565	13780	9	A	G	G	G	91	7	RGS3	5	4
GTF3C5	9328	broad.mit.edu	37	9	135932240	135932240	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135932240G>T	uc004ccj.3	+	c.1359G>T	c.(1357-1359)GAG>GAT	p.E453D	GTF3C5_uc004cci.3_Missense_Mutation_p.E446D	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	446					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)										0.182609	39.397577	50.287622	21	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135932240	135932240	7156	9	G	T	T	T	438	34	GTF3C5	2	2
KCNV2	169522	broad.mit.edu	37	9	2719074	2719074	+	Silent	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2719074C>A	uc003zho.1	+	c.1335C>A	c.(1333-1335)CCC>CCA	p.P445P		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	445					response to stimulus|visual perception	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(50;0.0257)										0.15873	27.008237	41.016476	20	106	KEEP	---	---	---	---	capture		Silent	SNP	2719074	2719074	8400	9	C	A	A	A	275	22	KCNV2	2	2
GLIS3	169792	broad.mit.edu	37	9	3932421	3932421	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3932421G>A	uc003zhx.1	-	c.1922C>T	c.(1921-1923)CCA>CTA	p.P641L	GLIS3_uc010mhf.1_Missense_Mutation_p.P35L|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P486L|GLIS3_uc003zhy.1_Missense_Mutation_p.P419L|GLIS3_uc003zhz.1_Missense_Mutation_p.P419L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	486	C2H2-type 5.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter		DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)										0.210744	119.013948	137.728321	51	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3932421	3932421	6715	9	G	A	A	A	611	47	GLIS3	2	2
INSL6	11172	broad.mit.edu	37	9	5185499	5185499	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5185499C>A	uc003zix.2	-	c.104G>T	c.(103-105)AGG>ATG	p.R35M		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	35						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)										0.329412	73.665502	75.861034	28	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5185499	5185499	8071	9	C	A	A	A	312	24	INSL6	2	2
GLDC	2731	broad.mit.edu	37	9	6602206	6602206	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6602206C>A	uc003zkc.2	-	c.1059_splice	c.e8-1	p.R353_splice		NM_000170	NP_000161			glycine dehydrogenase (decarboxylating)						glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.37037	52.779888	53.579489	20	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6602206	6602206	6701	9	C	A	A	A	416	32	GLDC	5	2
VPS13A	23230	broad.mit.edu	37	9	79947017	79947017	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79947017T>C	uc004akr.2	+	c.6083T>C	c.(6082-6084)TTA>TCA	p.L2028S	VPS13A_uc004akp.3_Missense_Mutation_p.L2028S|VPS13A_uc004akq.3_Missense_Mutation_p.L2028S|VPS13A_uc004aks.2_Missense_Mutation_p.L1989S|VPS13A_uc004akt.2_Missense_Mutation_p.L368S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2028	TPR 6.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7														0.214286	46.093584	51.364146	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79947017	79947017	17756	9	T	C	C	C	793	61	VPS13A	4	4
PTPRD	5789	broad.mit.edu	37	9	8518298	8518299	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8518298_8518299CC>AA	uc003zkk.2	-	c.1092_1093GG>TT	c.(1090-1095)GAGGAA>GATTAA	p.364_365EE>D*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.364_365EE>D*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.364_365EE>D*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.358_359EE>D*|PTPRD_uc003zks.2_Nonsense_Mutation_p.354_355EE>D*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.364_365EE>D*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.351_352EE>D*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.364_365EE>D*|PTPRD_uc003zko.2_Nonsense_Mutation_p.361_362EE>D*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	364_365	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.375	160.728186	162.816628	57	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	8518298	8518299	13256	9	CC	AA	AA	AA	390	30	PTPRD	5	2
PTPDC1	138639	broad.mit.edu	37	9	96860849	96860849	+	Silent	SNP	A	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96860849A>T	uc010mrj.1	+	c.2001A>T	c.(1999-2001)GTA>GTT	p.V667V	PTPDC1_uc004auf.1_Silent_p.V613V|PTPDC1_uc004aug.1_Intron|PTPDC1_uc004auh.1_Silent_p.V665V|PTPDC1_uc010mri.1_Silent_p.V665V	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	613							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.228571	37.961923	42.693797	16	54	KEEP	---	---	---	---	capture		Silent	SNP	96860849	96860849	13228	9	A	T	T	T	184	15	PTPDC1	3	3
IRS4	8471	broad.mit.edu	37	X	107977956	107977956	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107977956G>T	uc004eoc.2	-	c.1619C>A	c.(1618-1620)TCA>TAA	p.S540*		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	540						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.446328	227.09249	227.537894	79	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107977956	107977956	8146	23	G	T	T	T	585	45	IRS4	5	2
AFF2	2334	broad.mit.edu	37	X	147919249	147919249	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147919249C>T	uc004fcp.2	+	c.1165C>T	c.(1165-1167)CCA>TCA	p.P389S	AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Missense_Mutation_p.P385S|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	389					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.525	64.173704	64.195237	21	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147919249	147919249	358	23	C	T	T	T	286	22	AFF2	2	2
DMD	1756	broad.mit.edu	37	X	32827695	32827695	+	Silent	SNP	G	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32827695G>A	uc004dda.1	-	c.564C>T	c.(562-564)TGC>TGT	p.C188C	DMD_uc004dcz.2_Silent_p.C65C|DMD_uc004dcy.1_Silent_p.C184C|DMD_uc004ddb.1_Silent_p.C180C|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.C180C|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	188	CH 2.|Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.432432	45.89117	46.03903	16	21	KEEP	---	---	---	---	capture		Silent	SNP	32827695	32827695	4760	23	G	A	A	A	542	42	DMD	2	2
RPGR	6103	broad.mit.edu	37	X	38132728	38132728	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38132728A>G	uc004deb.2	-	c.2152T>C	c.(2152-2154)TAC>CAC	p.Y718H	RPGR_uc004dea.2_Non-coding_Transcript|RPGR_uc004dec.2_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	716	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.2	5.744586	6.581239	2	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38132728	38132728	14027	23	A	G	G	G	208	16	RPGR	4	4
PHF16	9767	broad.mit.edu	37	X	46913645	46913645	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:46913645G>T	uc004dgx.2	+	c.1058G>T	c.(1057-1059)GGA>GTA	p.G353V	PHF16_uc004dgy.2_Missense_Mutation_p.G353V	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	353					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0														0.368421	18.325488	18.612305	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46913645	46913645	12250	23	G	T	T	T	533	41	PHF16	2	2
KLHL4	56062	broad.mit.edu	37	X	86868947	86868947	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86868947C>A	uc004efa.2	+	c.490C>A	c.(490-492)CAC>AAC	p.H164N	KLHL4_uc004efb.2_Missense_Mutation_p.H164N	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	164						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.568627	91.378842	91.587634	29	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86868947	86868947	8705	23	C	A	A	A	273	21	KLHL4	2	2
KDM5D	8284	broad.mit.edu	37	Y	21869168	21869168	+	Silent	SNP	C	T	T			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:21869168C>T	uc011naz.1	-	c.3957G>A	c.(3955-3957)GTG>GTA	p.V1319V	KDM5D_uc004fug.2_Silent_p.V1288V|KDM5D_uc010nwy.2_Silent_p.V1231V|KDM5D_uc004fuf.2_Silent_p.V463V	NM_001146705	NP_001140177	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	1288					chromatin modification|oxidation-reduction process|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)									0.272727	7.71963	8.232097	3	8	KEEP	---	---	---	---	capture		Silent	SNP	21869168	21869168	8442	24	C	T	T	T	366	29	KDM5D	2	2
TP53	7157	broad.mit.edu	37	17	7578246	7578247	+	Frame_Shift_Ins	INS	-	A	A			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578246_7578247insA	uc002gim.2	-	c.602_603insT	c.(601-603)TTGfs	p.L201fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L201fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L201fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L69fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L69fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L69fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L201fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L201fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L201fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L108fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L69fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L162fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	201	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.L201F(7)|p.0?(6)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.R202fs*8(1)|p.P191fs*6(1)|p.L201*(1)|p.L201_R202>FC(1)|p.G199fs*42(1)|p.R202fs*7(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.36			21	37		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	7578246	7578247	16923	17	-	A	A	A	324	25	TP53	5	5
SPRR4	163778	broad.mit.edu	37	1	152944454	152944454	+	Frame_Shift_Del	DEL	C	-	-			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152944454_152944454delC	uc001fav.1	+	c.88_88delC	c.(88-90)CCCfs	p.P30fs		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	30	Gln-rich.				keratinization	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.31			74	165		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	152944454	152944454	15618	1	C	-	-	-	234	18	SPRR4	5	5
MYO18B	84700	broad.mit.edu	37	22	26299684	26299684	+	Frame_Shift_Del	DEL	G	-	-			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26299684_26299684delG	uc003abz.1	+	c.5034_5034delG	c.(5032-5034)CTGfs	p.L1678fs	MYO18B_uc003aca.1_Frame_Shift_Del_p.L1559fs|MYO18B_uc010guy.1_Frame_Shift_Del_p.L1560fs|MYO18B_uc010guz.1_Frame_Shift_Del_p.L1558fs|MYO18B_uc011aka.1_Frame_Shift_Del_p.L832fs|MYO18B_uc011akb.1_Frame_Shift_Del_p.L1191fs	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1678	Potential.|Tail.|Gln-rich.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.36			9	16		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	26299684	26299684	10461	22	G	-	-	-	600	47	MYO18B	5	5
OR2V2	285659	broad.mit.edu	37	5	180582227	180582228	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582227_180582228delTG	uc011dhj.1	+	c.285_286delTG	c.(283-288)TTTGTGfs	p.F95fs		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	95_96	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)											0.32			84	175		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	180582227	180582228	11437	5	TG	-	-	-	816	63	OR2V2	5	5
FBXO24	26261	broad.mit.edu	37	7	100190489	100190489	+	Frame_Shift_Del	DEL	T	-	-			TCGA-38-4629-01	TCGA-38-4629-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100190489_100190489delT	uc011kjz.1	+	c.756_756delT	c.(754-756)GGTfs	p.G252fs	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Frame_Shift_Del_p.G200fs|FBXO24_uc003uvm.1_Frame_Shift_Del_p.G214fs|FBXO24_uc003uvn.1_Intron|FBXO24_uc011kka.1_Frame_Shift_Del_p.G202fs	NM_012172	NP_036304	O75426	FBX24_HUMAN	F-box only protein 24 isoform 3	214						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.51			38	36		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	100190489	100190489	5972	7	T	-	-	-	730	57	FBXO24	5	5
