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
SORCS1	114815	broad.mit.edu	37	10	108427547	108427547	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108427547C>A	uc001kyl.2	-	c.2203G>T	c.(2203-2205)GAG>TAG	p.E735*	SORCS1_uc001kym.2_Nonsense_Mutation_p.E735*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.E735*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.E735*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.E735*	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	735	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.25	10.994106	11.901822	4	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108427547	108427547	15430	10	C	A	A	A	377	29	SORCS1	5	2
C10orf90	118611	broad.mit.edu	37	10	128147664	128147664	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:128147664G>T	uc010qum.1	-	c.2133C>A	c.(2131-2133)AGC>AGA	p.S711R	C10orf90_uc001ljp.2_Missense_Mutation_p.S470R|C10orf90_uc001ljq.2_Missense_Mutation_p.S614R|C10orf90_uc001ljo.2_Non-coding_Transcript	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	614											0		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)										0.125	5.128209	11.729614	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128147664	128147664	1660	10	G	T	T	T	542	42	C10orf90	2	2
MLLT10	8028	broad.mit.edu	37	10	21962366	21962366	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21962366C>T	uc001iqs.2	+	c.1139C>T	c.(1138-1140)TCA>TTA	p.S380L	MLLT10_uc001iqt.2_Missense_Mutation_p.S380L|MLLT10_uc001iqv.2_Non-coding_Transcript|MLLT10_uc001iqy.2_Missense_Mutation_p.S380L|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.S135L	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	380	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1										395				0.089552	4.720528	27.490903	12	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21962366	21962366	10016	10	C	T	T	T	377	29	MLLT10	2	2
ZNF248	57209	broad.mit.edu	37	10	38145231	38145231	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38145231T>A	uc001izd.1	-	c.8A>T	c.(7-9)AAA>ATA	p.K3I	ZNF248_uc009xmc.2_Missense_Mutation_p.K3I|ZNF248_uc001izb.2_Non-coding_Transcript|ZNF248_uc001izc.2_Missense_Mutation_p.K3I|ZNF248_uc010qeu.1_Missense_Mutation_p.K3I	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.120482	12.790627	24.514464	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38145231	38145231	18384	10	T	A	A	A	832	64	ZNF248	3	3
OGDHL	55753	broad.mit.edu	37	10	50959886	50959886	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50959886C>G	uc009xog.2	-	c.817G>C	c.(817-819)GTG>CTG	p.V273L	OGDHL_uc001jie.2_Missense_Mutation_p.V246L|OGDHL_uc010qgt.1_Missense_Mutation_p.V189L|OGDHL_uc010qgu.1_Missense_Mutation_p.V37L|OGDHL_uc009xoh.2_Missense_Mutation_p.V37L	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	246					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.064935	-3.582458	11.553939	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50959886	50959886	11245	10	C	G	G	G	260	20	OGDHL	3	3
PRKG1	5592	broad.mit.edu	37	10	53564427	53564427	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:53564427C>A	uc001jjo.2	+	c.675C>A	c.(673-675)ACC>ACA	p.T225T	PRKG1_uc001jjm.2_Silent_p.T210T|PRKG1_uc001jjn.2_Silent_p.T225T	NM_006258	NP_006249	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	210	cGMP 1.				actin cytoskeleton organization|platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)						1247				0.171429	10.449926	14.036714	6	29	KEEP	---	---	---	---	capture		Silent	SNP	53564427	53564427	12965	10	C	A	A	A	288	23	PRKG1	1	1
TMEM26	219623	broad.mit.edu	37	10	63170408	63170408	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63170408C>T	uc001jlo.2	-	c.779G>A	c.(778-780)AGC>AAC	p.S260N	TMEM26_uc010qij.1_Non-coding_Transcript|TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	260	Helical; (Potential).					integral to membrane					0	Prostate(12;0.0112)													0.157895	5.438569	7.538178	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63170408	63170408	16690	10	C	T	T	T	364	28	TMEM26	2	2
ARID5B	84159	broad.mit.edu	37	10	63850816	63850816	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63850816G>T	uc001jlt.1	+	c.1594G>T	c.(1594-1596)GAG>TAG	p.E532*		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	532					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.115385	4.437156	12.005227	6	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	63850816	63850816	937	10	G	T	T	T	533	41	ARID5B	5	2
MUC2	4583	broad.mit.edu	37	11	1103270	1103270	+	Missense_Mutation	SNP	G	T	T	rs72655355		TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1103270G>T	uc001lsx.1	+	c.15106G>T	c.(15106-15108)GTC>TTC	p.V5036F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	5036						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.113208	9.107076	16.847779	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1103270	1103270	10369	11	G	T	T	T	520	40	MUC2	1	1
TTC12	54970	broad.mit.edu	37	11	113234572	113234572	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113234572G>T	uc001pnv.2	+	c.1757G>T	c.(1756-1758)CGT>CTT	p.R586L	TTC12_uc001pnu.2_Missense_Mutation_p.R580L|TTC12_uc001pnw.2_Non-coding_Transcript|TTC12_uc001pnx.2_Missense_Mutation_p.R430L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	580							binding			pancreas(2)|central_nervous_system(1)	3		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)										0.128205	8.251327	13.501214	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113234572	113234572	17233	11	G	T	T	T	520	40	TTC12	1	1
MLL	4297	broad.mit.edu	37	11	118374343	118374343	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118374343A>G	uc001ptb.2	+	c.7736A>G	c.(7735-7737)AAT>AGT	p.N2579S	MLL_uc001pta.2_Missense_Mutation_p.N2576S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2576					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)						723				0.108696	5.842089	12.820063	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118374343	118374343	10010	11	A	G	G	G	52	4	MLL	4	4
OR8D2	283160	broad.mit.edu	37	11	124189170	124189170	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124189170C>G	uc010sah.1	-	c.924G>C	c.(922-924)AGG>AGC	p.R308S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)										0.098765	7.940703	20.98025	8	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124189170	124189170	11643	11	C	G	G	G	337	26	OR8D2	3	3
FLI1	2313	broad.mit.edu	37	11	128642774	128642774	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128642774C>A	uc010sbu.1	+	c.483C>A	c.(481-483)AAC>AAA	p.N161K	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.N128K|FLI1_uc009zci.2_Missense_Mutation_p.N95K	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	161	PNT.				hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)						400				0.056	-10.880623	15.032909	7	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128642774	128642774	6162	11	C	A	A	A	220	17	FLI1	2	2
NCAPD3	23310	broad.mit.edu	37	11	134080260	134080260	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134080260C>A	uc001qhd.1	-	c.471G>T	c.(469-471)TTG>TTT	p.L157F	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	157					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|lung(1)|kidney(1)	4	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-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;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)						861				0.081967	-0.252171	10.580766	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134080260	134080260	10605	11	C	A	A	A	376	29	NCAPD3	2	2
PTPN5	84867	broad.mit.edu	37	11	18751016	18751016	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18751016G>T	uc001mpd.2	-	c.1588C>A	c.(1588-1590)CAG>AAG	p.Q530K	PTPN5_uc001mpb.2_Missense_Mutation_p.Q498K|PTPN5_uc001mpc.2_Missense_Mutation_p.Q530K|PTPN5_uc001mpe.2_Missense_Mutation_p.Q498K|PTPN5_uc010rdj.1_Missense_Mutation_p.Q474K|PTPN5_uc001mpf.2_Missense_Mutation_p.Q506K|PTPN5_uc010rdk.1_Missense_Mutation_p.Q475K	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	530	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2														0.25	12.164054	13.301558	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18751016	18751016	13248	11	G	T	T	T	611	47	PTPN5	2	2
OR52A5	390054	broad.mit.edu	37	11	5153348	5153348	+	Silent	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5153348T>A	uc010qyx.1	-	c.525A>T	c.(523-525)ACA>ACT	p.T175T		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.077922	-0.010351	14.019914	6	71	KEEP	---	---	---	---	capture		Silent	SNP	5153348	5153348	11520	11	T	A	A	A	704	55	OR52A5	3	3
OR4A15	81328	broad.mit.edu	37	11	55135670	55135670	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135670C>A	uc010rif.1	+	c.311C>A	c.(310-312)GCA>GAA	p.A104E		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	104	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.192857	57.811413	70.191504	27	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135670	55135670	11446	11	C	A	A	A	325	25	OR4A15	2	2
OR5D18	219438	broad.mit.edu	37	11	55587405	55587405	+	Silent	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587405A>T	uc010rin.1	+	c.300A>T	c.(298-300)GTA>GTT	p.V100V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.046632	-25.837604	16.694388	9	184	KEEP	---	---	---	---	capture		Silent	SNP	55587405	55587405	11567	11	A	T	T	T	171	14	OR5D18	3	3
OR5T2	219464	broad.mit.edu	37	11	55999689	55999689	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55999689T>A	uc010rjc.1	-	c.973A>T	c.(973-975)AAT>TAT	p.N325Y		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	325	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.103093	5.390799	20.6104	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55999689	55999689	11592	11	T	A	A	A	806	62	OR5T2	3	3
OR5R1	219479	broad.mit.edu	37	11	56184894	56184894	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56184894T>A	uc010rji.1	-	c.815A>T	c.(814-816)AAG>ATG	p.K272M		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.191919	41.966727	50.745051	19	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56184894	56184894	11590	11	T	A	A	A	728	56	OR5R1	3	3
OR5R1	219479	broad.mit.edu	37	11	56185351	56185351	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56185351A>T	uc010rji.1	-	c.358T>A	c.(358-360)TAC>AAC	p.Y120N		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.122449	6.24241	13.067468	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56185351	56185351	11590	11	A	T	T	T	195	15	OR5R1	3	3
ZFP91	80829	broad.mit.edu	37	11	58384671	58384671	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58384671G>A	uc001nmx.3	+	c.1205G>A	c.(1204-1206)TGT>TAT	p.C402Y	ZFP91_uc001nmy.3_Missense_Mutation_p.C401Y|ZFP91-CNTF_uc010rkm.1_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	402	C2H2-type 4.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)												0.125	10.061582	18.849901	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58384671	58384671	18244	11	G	A	A	A	624	48	ZFP91	2	2
GLYAT	10249	broad.mit.edu	37	11	58482797	58482797	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58482797G>T	uc001nnb.2	-	c.181C>A	c.(181-183)CAG>AAG	p.Q61K	GLYAT_uc001nnc.2_Missense_Mutation_p.Q61K	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	61					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)					191				0.235294	21.218443	23.372509	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58482797	58482797	6747	11	G	T	T	T	585	45	GLYAT	2	2
TMEM132A	54972	broad.mit.edu	37	11	60699188	60699188	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60699188G>T	uc001nqi.2	+	c.1047G>T	c.(1045-1047)TGG>TGT	p.W349C	TMEM132A_uc001nqj.2_Missense_Mutation_p.W348C|TMEM132A_uc001nqk.2_Missense_Mutation_p.W361C|TMEM132A_uc001nql.1_Missense_Mutation_p.W361C|TMEM132A_uc001nqm.2_5'Flank	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform a	348	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0														0.094595	3.573155	15.784921	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60699188	60699188	16576	11	G	T	T	T	559	43	TMEM132A	2	2
AHNAK	79026	broad.mit.edu	37	11	62301093	62301093	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62301093C>G	uc001ntl.2	-	c.796G>C	c.(796-798)GAC>CAC	p.D266H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	266					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.082192	0.898353	13.863977	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62301093	62301093	417	11	C	G	G	G	390	30	AHNAK	3	3
GPR137	56834	broad.mit.edu	37	11	64055924	64055924	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64055924G>T	uc010rni.1	+	c.1070G>T	c.(1069-1071)CGG>CTG	p.R357L	GPR137_uc001nzf.2_Missense_Mutation_p.R249L|GPR137_uc001nzg.1_Missense_Mutation_p.R299L|GPR137_uc001nzi.2_Missense_Mutation_p.R299L|GPR137_uc010rnj.1_Missense_Mutation_p.R299L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	299	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1										60				0.1875	48.797082	60.449736	24	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64055924	64055924	6919	11	G	T	T	T	507	39	GPR137	1	1
PPFIA1	8500	broad.mit.edu	37	11	70172854	70172854	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70172854T>A	uc001opo.2	+	c.860T>A	c.(859-861)CTG>CAG	p.L287Q	PPFIA1_uc001opn.1_Missense_Mutation_p.L287Q|PPFIA1_uc001opp.2_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	287	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)											0.134921	29.192757	45.46864	17	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70172854	70172854	12739	11	T	A	A	A	715	55	PPFIA1	3	3
SYT9	143425	broad.mit.edu	37	11	7334985	7334985	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7334985A>G	uc001mfe.2	+	c.857A>G	c.(856-858)GAT>GGT	p.D286G	SYT9_uc001mfd.2_Non-coding_Transcript|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	286	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)										0.119565	34.288484	60.361941	22	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7334985	7334985	16002	11	A	G	G	G	156	12	SYT9	4	4
PRR4	11272	broad.mit.edu	37	12	10999703	10999703	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10999703C>A	uc009zhp.2	-	c.403G>T	c.(403-405)GAC>TAC	p.D135Y	PRH1_uc001qzb.3_Non-coding_Transcript|PRR4_uc001qyz.3_Missense_Mutation_p.D122Y|PRR4_uc001qza.3_Non-coding_Transcript	NM_001098538	NP_001092008	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal) isoform 1	122					visual perception	extracellular space					0														0.138614	17.195649	29.959871	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10999703	10999703	13048	12	C	A	A	A	390	30	PRR4	2	2
HNF1A	6927	broad.mit.edu	37	12	121434172	121434172	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121434172G>T	uc010szn.1	+	c.1063G>T	c.(1063-1065)GGC>TGC	p.G355C	HNF1A_uc001tze.1_Missense_Mutation_p.G355C|HNF1A_uc001tzf.2_Missense_Mutation_p.G355C|HNF1A_uc001tzg.2_Missense_Mutation_p.G355C	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	355					glucose homeostasis|glucose import|insulin secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|nucleus|protein complex	DNA binding|promoter binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription activator activity			liver(91)|large_intestine(15)|endometrium(6)|breast(2)	114	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)								p.G355S(OC316-Tumor)	239				0.157143	19.097685	26.936529	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121434172	121434172	7543	12	G	T	T	T	559	43	HNF1A	2	2
PITPNM2	57605	broad.mit.edu	37	12	123489893	123489893	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123489893C>T	uc001uej.1	-	c.846G>A	c.(844-846)GGG>GGA	p.G282G	PITPNM2_uc001uek.1_Silent_p.G282G|PITPNM2_uc009zxu.1_Silent_p.G282G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	282					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)										0.128571	14.873384	24.24025	9	61	KEEP	---	---	---	---	capture		Silent	SNP	123489893	123489893	12375	12	C	T	T	T	275	22	PITPNM2	2	2
PLCZ1	89869	broad.mit.edu	37	12	18848012	18848012	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18848012C>A	uc010sid.1	-	c.1293G>T	c.(1291-1293)GTG>GTT	p.V431V	PLCZ1_uc001rdv.3_Silent_p.V327V|PLCZ1_uc001rdw.3_Silent_p.V172V|PLCZ1_uc001rdu.1_Silent_p.V213V|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	431	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)													0.125	8.616109	15.210619	6	42	KEEP	---	---	---	---	capture		Silent	SNP	18848012	18848012	12470	12	C	A	A	A	262	21	PLCZ1	2	2
PKP2	5318	broad.mit.edu	37	12	32975478	32975478	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32975478T>A	uc001rlj.3	-	c.1894A>T	c.(1894-1896)ATT>TTT	p.I632F	PKP2_uc001rlk.3_Missense_Mutation_p.I588F|PKP2_uc010skj.1_Missense_Mutation_p.I588F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	632					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.15873	19.714039	26.702741	10	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32975478	32975478	12410	12	T	A	A	A	637	49	PKP2	3	3
PKP2	5318	broad.mit.edu	37	12	32975519	32975519	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32975519A>C	uc001rlj.3	-	c.1853T>G	c.(1852-1854)CTG>CGG	p.L618R	PKP2_uc001rlk.3_Missense_Mutation_p.L574R|PKP2_uc010skj.1_Missense_Mutation_p.L574R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	618					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.208333	21.92432	25.706942	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32975519	32975519	12410	12	A	C	C	C	91	7	PKP2	4	4
SLC11A2	4891	broad.mit.edu	37	12	51399200	51399200	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51399200C>T	uc001rxk.1	-	c.290G>A	c.(289-291)CGT>CAT	p.R97H	SLC11A2_uc001rxe.3_Missense_Mutation_p.R68H|SLC11A2_uc001rxd.3_5'UTR|SLC11A2_uc001rxc.3_Missense_Mutation_p.R68H|SLC11A2_uc001rxf.2_Non-coding_Transcript|SLC11A2_uc010smx.1_Missense_Mutation_p.R64H|SLC11A2_uc001rxh.1_Missense_Mutation_p.R68H|SLC11A2_uc001rxj.1_Missense_Mutation_p.R68H|SLC11A2_uc001rxi.2_Missense_Mutation_p.R68H|SLC11A2_uc010smy.1_Missense_Mutation_p.R31H	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	68	Cytoplasmic (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1														0.179487	15.407258	19.171376	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51399200	51399200	14876	12	C	T	T	T	247	19	SLC11A2	1	1
KRT71	112802	broad.mit.edu	37	12	52943961	52943961	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52943961G>T	uc001sao.2	-	c.508C>A	c.(508-510)CTG>ATG	p.L170M		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	170	Linker 1.|Rod.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.049296	-16.494541	14.135526	7	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52943961	52943961	8799	12	G	T	T	T	451	35	KRT71	2	2
SLC26A10	65012	broad.mit.edu	37	12	58018712	58018712	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58018712G>T	uc001spe.2	+	c.1291G>T	c.(1291-1293)GGG>TGG	p.G431W	SLC26A10_uc001spf.2_Non-coding_Transcript|SLC26A10_uc009zpz.1_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	431	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)													0.294118	78.399561	82.276205	30	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58018712	58018712	15012	12	G	T	T	T	611	47	SLC26A10	2	2
AGAP2	116986	broad.mit.edu	37	12	58125159	58125159	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58125159G>T	uc001spq.2	-	c.2135C>A	c.(2134-2136)CCC>CAC	p.P712H	AGAP2_uc001spp.2_Missense_Mutation_p.P712H|AGAP2_uc001spr.2_Missense_Mutation_p.P376H	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	712	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257				0.084337	-0.24049	14.322223	7	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58125159	58125159	370	12	G	T	T	T	559	43	AGAP2	2	2
PLEKHG6	55200	broad.mit.edu	37	12	6426509	6426509	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6426509G>A	uc001qnr.2	+	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	PLEKHG6_uc001qns.2_Missense_Mutation_p.R266Q|PLEKHG6_uc010sew.1_Missense_Mutation_p.R266Q|PLEKHG6_uc010sex.1_Missense_Mutation_p.R234Q	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	266	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.138462	14.1992	22.35644	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6426509	6426509	12500	12	G	A	A	A	481	37	PLEKHG6	1	1
TPI1	7167	broad.mit.edu	37	12	6979503	6979504	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6979503_6979504TC>AA	uc001qrk.2	+	c.706_707TC>AA	c.(706-708)TCC>AAC	p.S236N	TPI1_uc010sfo.1_Missense_Mutation_p.S154N	NM_000365	NP_000356	P60174	TPIS_HUMAN	triosephosphate isomerase 1 isoform 1	236					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity				0												OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.28125	23.564639	24.938925	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	6979503	6979504	16947	12	TC	AA	AA	AA	806	62	TPI1	3	3
CD163L1	283316	broad.mit.edu	37	12	7522072	7522072	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7522072G>T	uc010sge.1	-	c.3950C>A	c.(3949-3951)ACC>AAC	p.T1317N	CD163L1_uc001qsy.2_Missense_Mutation_p.T1307N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1307	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.265487	78.511135	84.121576	30	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7522072	7522072	3095	12	G	T	T	T	572	44	CD163L1	2	2
NAV3	89795	broad.mit.edu	37	12	78513538	78513538	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78513538C>A	uc001syp.2	+	c.3562C>A	c.(3562-3564)CGC>AGC	p.R1188S	NAV3_uc001syo.2_Missense_Mutation_p.R1188S|NAV3_uc010sub.1_Missense_Mutation_p.R688S|NAV3_uc009zsf.2_Missense_Mutation_p.R196S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1188	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.230769	40.698787	45.010676	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78513538	78513538	10581	12	C	A	A	A	351	27	NAV3	1	1
EPYC	1833	broad.mit.edu	37	12	91371881	91371881	+	Silent	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91371881C>G	uc001tbk.2	-	c.324G>C	c.(322-324)GGG>GGC	p.G108G		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	108	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding				0												OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.066667	-1.826555	9.830217	4	56	KEEP	---	---	---	---	capture		Silent	SNP	91371881	91371881	5394	12	C	G	G	G	327	26	EPYC	3	3
PZP	5858	broad.mit.edu	37	12	9322124	9322124	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9322124C>T	uc001qvl.2	-	c.1903G>A	c.(1903-1905)GAA>AAA	p.E635K	PZP_uc009zgl.2_Missense_Mutation_p.E504K|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.195652	20.374133	24.327193	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9322124	9322124	13327	12	C	T	T	T	390	30	PZP	2	2
ITGBL1	9358	broad.mit.edu	37	13	102250508	102250508	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:102250508G>T	uc001vpb.2	+	c.874G>T	c.(874-876)GGA>TGA	p.G292*	ITGBL1_uc010agb.2_Nonsense_Mutation_p.G243*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.G151*	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	292	VI.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.083333	1.730427	12.314059	5	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102250508	102250508	8206	13	G	T	T	T	611	47	ITGBL1	5	2
COL4A2	1284	broad.mit.edu	37	13	111138029	111138029	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111138029G>T	uc001vqx.2	+	c.3053G>T	c.(3052-3054)GGG>GTG	p.G1018V		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1018	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.135802	15.250333	25.597555	11	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111138029	111138029	3828	13	G	T	T	T	559	43	COL4A2	2	2
CYSLTR2	57105	broad.mit.edu	37	13	49281393	49281393	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49281393T>A	uc010acx.1	+	c.440T>A	c.(439-441)CTG>CAG	p.L147Q	CYSLTR2_uc010acy.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010acz.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010ada.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010adb.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010adc.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010add.1_Missense_Mutation_p.L147Q|CYSLTR2_uc010acw.1_Missense_Mutation_p.L147Q|CYSLTR2_uc001vck.2_Missense_Mutation_p.L147Q	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	147	Cytoplasmic (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)					46				0.128205	22.556537	38.304772	15	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49281393	49281393	4367	13	T	A	A	A	715	55	CYSLTR2	3	3
SLITRK1	114798	broad.mit.edu	37	13	84454067	84454067	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84454067G>T	uc001vlk.2	-	c.1576C>A	c.(1576-1578)CTC>ATC	p.L526I		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	526	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.108108	4.478218	10.106442	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84454067	84454067	15240	13	G	T	T	T	455	35	SLITRK1	2	2
GPC5	2262	broad.mit.edu	37	13	92560248	92560248	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92560248C>T	uc010tif.1	+	c.1338C>T	c.(1336-1338)GTC>GTT	p.V446V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	446						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.192982	23.131999	28.118757	11	46	KEEP	---	---	---	---	capture		Silent	SNP	92560248	92560248	6875	13	C	T	T	T	366	29	GPC5	2	2
ABCC4	10257	broad.mit.edu	37	13	95840797	95840797	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95840797C>A	uc001vmd.3	-	c.1264_splice	c.e10-1	p.A422_splice	ABCC4_uc010afk.2_Splice_Site_SNP_p.A422_splice|ABCC4_uc001vme.2_Splice_Site_SNP_p.A422_splice|ABCC4_uc010tih.1_Splice_Site_SNP_p.A347_splice|ABCC4_uc001vmf.2_Splice_Site_SNP_p.A379_splice|ABCC4_uc010afl.1_Splice_Site_SNP_p.A379_splice|ABCC4_uc010afm.1_Splice_Site_SNP_p.A435_splice	NM_005845	NP_005836			ATP-binding cassette, sub-family C, member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.320755	45.256861	46.769363	17	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	95840797	95840797	56	13	C	A	A	A	312	24	ABCC4	5	2
HS6ST3	266722	broad.mit.edu	37	13	97485160	97485160	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97485160C>A	uc001vmw.2	+	c.1124C>A	c.(1123-1125)CCC>CAC	p.P375H		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	375	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity			ovary(1)	1	all_neural(89;0.0878)|Medulloblastoma(90;0.163)													0.148148	16.939511	26.586047	12	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97485160	97485160	7666	13	C	A	A	A	286	22	HS6ST3	2	2
OR11H12	440153	broad.mit.edu	37	14	19378025	19378025	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19378025C>T	uc010tkp.1	+	c.432C>T	c.(430-432)CCC>CCT	p.P144P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	144	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.101351	13.578278	37.195734	15	133	KEEP	---	---	---	---	capture		Silent	SNP	19378025	19378025	11333	14	C	T	T	T	301	24	OR11H12	2	2
OR4M1	441670	broad.mit.edu	37	14	20249073	20249073	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20249073G>T	uc010tku.1	+	c.592G>T	c.(592-594)GTG>TTG	p.V198L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	198	Helical; Name=5; (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)										0.134021	60.656651	98.441974	39	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20249073	20249073	11485	14	G	T	T	T	468	36	OR4M1	2	2
OR4K1	79544	broad.mit.edu	37	14	20404246	20404246	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404246T>G	uc001vwj.1	+	c.421T>G	c.(421-423)TGT>GGT	p.C141G		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.092857	2.537152	26.03603	13	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20404246	20404246	11477	14	T	G	G	G	715	55	OR4K1	4	4
CLEC14A	161198	broad.mit.edu	37	14	38724645	38724645	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38724645G>T	uc001wum.1	-	c.583C>A	c.(583-585)CCC>ACC	p.P195T		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	195	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)	3	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)										0.180723	30.359106	38.251247	15	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38724645	38724645	3636	14	G	T	T	T	546	42	CLEC14A	2	2
FSCB	84075	broad.mit.edu	37	14	44975848	44975848	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975848C>T	uc001wvn.2	-	c.343G>A	c.(343-345)GTA>ATA	p.V115I		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	115						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.093333	9.840986	47.229387	21	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975848	44975848	6316	14	C	T	T	T	221	17	FSCB	2	2
RPL10L	140801	broad.mit.edu	37	14	47120666	47120666	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120666G>T	uc001wwg.2	-	c.274C>A	c.(274-276)CAT>AAT	p.H92N		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	92					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.131148	13.158866	21.225562	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47120666	47120666	14035	14	G	T	T	T	611	47	RPL10L	2	2
FRMD6	122786	broad.mit.edu	37	14	52188670	52188670	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52188670T>A	uc001wzd.2	+	c.1364T>A	c.(1363-1365)ATA>AAA	p.I455K	FRMD6_uc001wzb.2_Missense_Mutation_p.I447K|FRMD6_uc001wzc.2_Missense_Mutation_p.I447K|FRMD6_uc001wze.2_Missense_Mutation_p.I378K|FRMD6_uc001wzf.2_Missense_Mutation_p.I148K|FRMD6_uc001wzg.2_Missense_Mutation_p.I97K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	455						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(31;0.0163)|Breast(41;0.089)													0.072727	-1.043196	9.286264	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52188670	52188670	6304	14	T	A	A	A	637	49	FRMD6	3	3
DACT1	51339	broad.mit.edu	37	14	59112813	59112813	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112813G>T	uc001xdw.2	+	c.1472G>T	c.(1471-1473)AGC>ATC	p.S491I	DACT1_uc010trv.1_Missense_Mutation_p.S210I|DACT1_uc001xdx.2_Missense_Mutation_p.S454I|DACT1_uc010trw.1_Missense_Mutation_p.S210I	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	491					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.090909	2.769676	15.758936	7	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59112813	59112813	4388	14	G	T	T	T	442	34	DACT1	2	2
TSHR	7253	broad.mit.edu	37	14	81609541	81609541	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81609541C>A	uc001xvd.1	+	c.1139C>A	c.(1138-1140)GCT>GAT	p.A380D		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	380	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.277778	40.404928	42.80235	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81609541	81609541	17173	14	C	A	A	A	364	28	TSHR	2	2
BCL11B	64919	broad.mit.edu	37	14	99640499	99640499	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99640499C>A	uc001yga.2	-	c.2674G>T	c.(2674-2676)GAG>TAG	p.E892*	BCL11B_uc001ygb.2_Nonsense_Mutation_p.E821*	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	892						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)						98				0.352941	33.588039	34.237152	12	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99640499	99640499	1385	14	C	A	A	A	403	31	BCL11B	5	1
HERC2	8924	broad.mit.edu	37	15	28467330	28467330	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28467330C>A	uc001zbj.2	-	c.5496G>T	c.(5494-5496)ATG>ATT	p.M1832I		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1832					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				0.138889	7.249093	11.788293	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28467330	28467330	7341	15	C	A	A	A	377	29	HERC2	2	2
SPINT1	6692	broad.mit.edu	37	15	41149044	41149044	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41149044C>T	uc001zna.2	+	c.1461C>T	c.(1459-1461)TTC>TTT	p.F487F	SPINT1_uc001znb.2_Silent_p.F471F|SPINT1_uc001znc.2_Silent_p.F471F|SPINT1_uc010ucs.1_Silent_p.F478F	NM_181642	NP_857593	O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	487						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)										0.158333	38.262693	51.603238	19	101	KEEP	---	---	---	---	capture		Silent	SNP	41149044	41149044	15580	15	C	T	T	T	415	32	SPINT1	2	2
C15orf33	196951	broad.mit.edu	37	15	49800533	49800533	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49800533T>C	uc001zxl.2	-	c.887A>G	c.(886-888)CAA>CGA	p.Q296R	C15orf33_uc001zxm.2_Missense_Mutation_p.Q262R	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	296										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)										0.117647	7.348181	17.131161	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49800533	49800533	1841	15	T	C	C	C	819	63	C15orf33	4	4
ADAMTSL3	57188	broad.mit.edu	37	15	84553886	84553886	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84553886C>G	uc002bjz.3	+	c.994C>G	c.(994-996)CAG>GAG	p.Q332E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q332E|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q332E	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	332						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.09375	1.298604	6.611412	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84553886	84553886	277	15	C	G	G	G	377	29	ADAMTSL3	3	3
MAN2A2	4122	broad.mit.edu	37	15	91450651	91450651	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91450651C>T	uc010bnz.2	+	c.1122C>T	c.(1120-1122)CGC>CGT	p.R374R	MAN2A2_uc010boa.2_Silent_p.R416R|MAN2A2_uc002bqc.2_Silent_p.R374R|MAN2A2_uc010uql.1_Silent_p.R78R|MAN2A2_uc010uqm.1_Missense_Mutation_p.A21V	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	374	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)											0.186667	28.915147	35.807855	14	61	KEEP	---	---	---	---	capture		Silent	SNP	91450651	91450651	9598	15	C	T	T	T	327	26	MAN2A2	2	2
GRIN2A	2903	broad.mit.edu	37	16	10031830	10031830	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:10031830C>T	uc002czo.3	-	c.993G>A	c.(991-993)ATG>ATA	p.M331I	GRIN2A_uc010uym.1_Missense_Mutation_p.M331I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M174I|GRIN2A_uc002czr.3_Missense_Mutation_p.M331I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	331	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.217391	12.065313	13.756976	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10031830	10031830	7058	16	C	T	T	T	325	25	GRIN2A	2	2
BAIAP3	8938	broad.mit.edu	37	16	1392054	1392054	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1392054G>T	uc002clk.1	+	c.949G>T	c.(949-951)GGC>TGC	p.G317C	BAIAP3_uc002clj.2_Missense_Mutation_p.G299C|BAIAP3_uc010uuz.1_Missense_Mutation_p.G282C|BAIAP3_uc010uva.1_Missense_Mutation_p.G254C|BAIAP3_uc010uvb.1_Missense_Mutation_p.G334C|BAIAP3_uc010uvc.1_Missense_Mutation_p.G282C	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	317	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.206897	14.134806	16.442917	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1392054	1392054	1325	16	G	T	T	T	559	43	BAIAP3	2	2
PTX4	390667	broad.mit.edu	37	16	1537612	1537612	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1537612C>A	uc010uvf.1	-	c.486G>T	c.(484-486)AGG>AGT	p.R162S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	167						extracellular region	metal ion binding				0														0.208333	11.362849	13.252845	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1537612	1537612	13281	16	C	A	A	A	337	26	PTX4	2	2
XYLT1	64131	broad.mit.edu	37	16	17202811	17202811	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17202811C>G	uc002dfa.2	-	c.2621G>C	c.(2620-2622)AGC>ACC	p.S874T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	874	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.169231	22.204183	28.921476	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17202811	17202811	18046	16	C	G	G	G	364	28	XYLT1	3	3
VWA3A	146177	broad.mit.edu	37	16	22155616	22155616	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22155616T>A	uc010vbq.1	+	c.2641T>A	c.(2641-2643)TGC>AGC	p.C881S	VWA3A_uc010bxd.2_Non-coding_Transcript|VWA3A_uc002dkg.3_5'UTR|VWA3A_uc010bxe.1_5'Flank	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	881						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)										0.176471	6.615034	8.291535	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22155616	22155616	17809	16	T	A	A	A	663	51	VWA3A	3	3
CES7	221223	broad.mit.edu	37	16	55897269	55897269	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55897269C>A	uc002eip.2	-	c.801G>T	c.(799-801)AAG>AAT	p.K267N	CES7_uc002eio.2_Missense_Mutation_p.K267N|CES7_uc002eiq.2_Missense_Mutation_p.K28N|CES7_uc002eir.2_Missense_Mutation_p.K161N	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	267					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)										0.15873	15.042345	22.013291	10	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55897269	55897269	3405	16	C	A	A	A	415	32	CES7	2	2
RSPRY1	89970	broad.mit.edu	37	16	57255297	57255297	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57255297G>T	uc002elb.2	+	c.1131G>T	c.(1129-1131)TGG>TGT	p.W377C	RSPRY1_uc002elc.2_Missense_Mutation_p.W377C|RSPRY1_uc002eld.2_Missense_Mutation_p.W377C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	377	B30.2/SPRY.					extracellular region	zinc ion binding			ovary(1)	1														0.110092	11.256433	27.626799	12	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57255297	57255297	14193	16	G	T	T	T	559	43	RSPRY1	2	2
SNTB2	6645	broad.mit.edu	37	16	69304105	69304105	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69304105G>C	uc002ewu.2	+	c.1065G>C	c.(1063-1065)AAG>AAC	p.K355N		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	355	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)								0.204819	35.319805	42.049047	17	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69304105	69304105	15373	16	G	C	C	C	451	35	SNTB2	3	3
CNTNAP4	85445	broad.mit.edu	37	16	76495885	76495885	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76495885G>T	uc002fex.1	+	c.1375G>T	c.(1375-1377)GTC>TTC	p.V459F	CNTNAP4_uc002feu.1_Missense_Mutation_p.V456F|CNTNAP4_uc002fev.1_Missense_Mutation_p.V320F|CNTNAP4_uc010chb.1_Missense_Mutation_p.V383F|CNTNAP4_uc002few.2_Missense_Mutation_p.V431F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	456	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.212121	33.626604	38.677293	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76495885	76495885	3787	16	G	T	T	T	624	48	CNTNAP4	2	2
TAF1C	9013	broad.mit.edu	37	16	84217022	84217022	+	Silent	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84217022A>T	uc002fhn.2	-	c.312T>A	c.(310-312)ACT>ACA	p.T104T	TAF1C_uc002fhm.2_Silent_p.T37T|TAF1C_uc010vnx.1_Silent_p.T104T|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_Non-coding_Transcript|TAF1C_uc010vob.1_Silent_p.T104T	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	104					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|general RNA polymerase II transcription factor activity|RNA polymerase I transcription factor activity			ovary(1)	1														0.166667	9.085272	11.612921	4	20	KEEP	---	---	---	---	capture		Silent	SNP	84217022	84217022	16042	16	A	T	T	T	80	7	TAF1C	3	3
USP7	7874	broad.mit.edu	37	16	8999107	8999107	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8999107C>A	uc002czl.2	-	c.1510G>T	c.(1510-1512)GAC>TAC	p.D504Y	USP7_uc010uyk.1_Missense_Mutation_p.D405Y|USP7_uc002czj.2_Non-coding_Transcript|USP7_uc010uyj.1_Missense_Mutation_p.D405Y|USP7_uc002czk.2_Missense_Mutation_p.D488Y|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	504					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3												OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.086957	2.705779	14.613954	6	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8999107	8999107	17652	16	C	A	A	A	403	31	USP7	1	1
MYH13	8735	broad.mit.edu	37	17	10258026	10258026	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10258026C>A	uc002gmk.1	-	c.976G>T	c.(976-978)GAT>TAT	p.D326Y		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	326	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.169811	16.236107	21.714058	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10258026	10258026	10427	17	C	A	A	A	403	31	MYH13	1	1
MYH1	4619	broad.mit.edu	37	17	10411814	10411814	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10411814G>T	uc002gmo.2	-	c.1763C>A	c.(1762-1764)ACC>AAC	p.T588N		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	588	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.079365	0.125441	11.504359	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10411814	10411814	10424	17	G	T	T	T	572	44	MYH1	2	2
MYH2	4620	broad.mit.edu	37	17	10432387	10432387	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10432387C>G	uc010coi.2	-	c.3364G>C	c.(3364-3366)GAG>CAG	p.E1122Q	MYH2_uc002gmp.3_Missense_Mutation_p.E1122Q|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1122	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.269231	37.725325	40.225435	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10432387	10432387	10430	17	C	G	G	G	377	29	MYH2	3	3
MYOCD	93649	broad.mit.edu	37	17	12656293	12656293	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12656293T>A	uc002gno.2	+	c.1688T>A	c.(1687-1689)CTG>CAG	p.L563Q	MYOCD_uc002gnn.2_Missense_Mutation_p.L563Q|MYOCD_uc002gnp.1_Missense_Mutation_p.L467Q|MYOCD_uc002gnq.2_Missense_Mutation_p.L282Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	563					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)										0.28	36.318258	38.503997	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12656293	12656293	10482	17	T	A	A	A	715	55	MYOCD	3	3
FAM83G	644815	broad.mit.edu	37	17	18881050	18881050	+	Silent	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18881050T>A	uc002guw.2	-	c.1929A>T	c.(1927-1929)CCA>CCT	p.P643P	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	643										ovary(1)	1														0.176471	13.447597	16.786727	6	28	KEEP	---	---	---	---	capture		Silent	SNP	18881050	18881050	5865	17	T	A	A	A	756	59	FAM83G	3	3
NOS2	4843	broad.mit.edu	37	17	26109133	26109133	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26109133C>A	uc002gzu.2	-	c.631_splice	c.e7-1	p.V211_splice	NOS2_uc010crh.1_Splice_Site_SNP_p.V211_splice|NOS2_uc010wab.1_Splice_Site_SNP_p.V211_splice	NM_000625	NP_000616			nitric oxide synthase 2A						arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.235294	8.298623	9.385484	4	13	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26109133	26109133	10946	17	C	A	A	A	312	24	NOS2	5	2
NF1	4763	broad.mit.edu	37	17	29665721	29665721	+	Splice_Site_SNP	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29665721G>C	uc002hgg.2	+	c.6820_splice	c.e46-1	p.A2274_splice	NF1_uc002hgh.2_Splice_Site_SNP_p.A2253_splice|NF1_uc010cso.2_Splice_Site_SNP_p.A462_splice|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Splice_Site_SNP	NM_001042492	NP_001035957			neurofibromin isoform 1						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			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)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.208791	43.470167	50.621496	19	72	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	29665721	29665721	10756	17	G	C	C	C	455	35	NF1	5	3
KRT28	162605	broad.mit.edu	37	17	38955177	38955177	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38955177G>T	uc002hvh.1	-	c.525C>A	c.(523-525)TTC>TTA	p.F175L		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	175	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				Melanoma(19;789 869 15380 26882 39836)								0.083333	1.851313	18.765652	8	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38955177	38955177	8780	17	G	T	T	T	581	45	KRT28	2	2
C17orf57	124989	broad.mit.edu	37	17	45471442	45471442	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45471442C>T	uc002iln.2	+	c.1778C>T	c.(1777-1779)ACG>ATG	p.T593M	C17orf57_uc002ilm.2_Missense_Mutation_p.T497M	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	593							calcium ion binding			breast(1)|central_nervous_system(1)	2														0.111111	10.402191	23.844425	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45471442	45471442	1922	17	C	T	T	T	247	19	C17orf57	1	1
LPO	4025	broad.mit.edu	37	17	56324947	56324947	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56324947G>T	uc002ivt.2	+	c.273G>T	c.(271-273)TGG>TGT	p.W91C	LPO_uc010dco.2_Missense_Mutation_p.W91C|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Missense_Mutation_p.W32C|LPO_uc010dcp.2_Intron|LPO_uc010dcq.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	91					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2														0.079365	-0.773767	10.606355	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56324947	56324947	9295	17	G	T	T	T	559	43	LPO	2	2
MTMR4	9110	broad.mit.edu	37	17	56584622	56584622	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56584622C>A	uc002iwj.2	-	c.724G>T	c.(724-726)GGC>TGC	p.G242C		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	242	Myotubularin phosphatase.					cytoplasm|membrane	protein tyrosine phosphatase activity|zinc ion binding			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.125	8.547292	16.191877	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56584622	56584622	10339	17	C	A	A	A	286	22	MTMR4	2	2
TTYH2	94015	broad.mit.edu	37	17	72233552	72233552	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72233552G>T	uc002jkc.2	+	c.534G>T	c.(532-534)GCG>GCT	p.A178A	TTYH2_uc010wqw.1_Silent_p.A157A	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	178	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.160714	14.233541	20.384077	9	47	KEEP	---	---	---	---	capture		Silent	SNP	72233552	72233552	17295	17	G	T	T	T	496	39	TTYH2	1	1
TP53	7157	broad.mit.edu	37	17	7578224	7578224	+	Nonsense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578224T>A	uc002gim.2	-	c.625A>T	c.(625-627)AGA>TGA	p.R209*	TP53_uc002gig.1_Nonsense_Mutation_p.R209*|TP53_uc002gih.2_Nonsense_Mutation_p.R209*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R77*|TP53_uc010cng.1_Nonsense_Mutation_p.R77*|TP53_uc002gii.1_Nonsense_Mutation_p.R77*|TP53_uc010cnh.1_Nonsense_Mutation_p.R209*|TP53_uc010cni.1_Nonsense_Mutation_p.R209*|TP53_uc002gij.2_Nonsense_Mutation_p.R209*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R116*|TP53_uc002gio.2_Nonsense_Mutation_p.R77*|TP53_uc010vug.1_Nonsense_Mutation_p.R170*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	209	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> I (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(23)|p.R209*(9)|p.0?(6)|p.D207fs*6(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*38(1)|p.R209R(1)|p.D207_V216del10(1)|p.R209fs*36(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*7(1)|p.D208_V216delDRNTFRHSV(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	p.R209*(NCIH2141-Tumor)|p.R209*(NCIH1793-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.216216	20.984655	23.729802	8	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7578224	7578224	16923	17	T	A	A	A	713	55	TP53	5	3
FAM38B	63895	broad.mit.edu	37	18	10696433	10696433	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10696433G>A	uc002kor.3	-	c.464C>T	c.(463-465)ACT>ATT	p.T155I	FAM38B_uc002koq.2_Missense_Mutation_p.T53I	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2198	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1														0.115942	7.833883	17.901163	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10696433	10696433	5776	18	G	A	A	A	468	36	FAM38B	2	2
MC5R	4161	broad.mit.edu	37	18	13825905	13825905	+	Silent	SNP	T	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13825905T>G	uc010xaf.1	+	c.141T>G	c.(139-141)GGT>GGG	p.G47G		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	47	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.074074	-0.229851	9.819796	4	50	KEEP	---	---	---	---	capture		Silent	SNP	13825905	13825905	9756	18	T	G	G	G	756	59	MC5R	4	4
SMCHD1	23347	broad.mit.edu	37	18	2775813	2775813	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2775813G>T	uc002klm.3	+	c.5257G>T	c.(5257-5259)GTC>TTC	p.V1753F	SMCHD1_uc002klk.3_Non-coding_Transcript|SMCHD1_uc002kll.3_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1753					chromosome organization		ATP binding				0														0.193548	13.536743	16.250199	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2775813	2775813	15286	18	G	T	T	T	468	36	SMCHD1	2	2
NOL4	8715	broad.mit.edu	37	18	31709869	31709869	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31709869C>A	uc010dmi.2	-	c.380G>T	c.(379-381)CGG>CTG	p.R127L	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Missense_Mutation_p.R53L|NOL4_uc010dmh.2_Missense_Mutation_p.R53L|NOL4_uc010xbu.1_Missense_Mutation_p.R127L|NOL4_uc002kxt.3_Missense_Mutation_p.R127L|NOL4_uc010xbw.1_Missense_Mutation_p.R13L	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	127						nucleolus	RNA binding			ovary(3)	3														0.075758	0.132134	12.299308	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31709869	31709869	10927	18	C	A	A	A	299	23	NOL4	1	1
SLC39A6	25800	broad.mit.edu	37	18	33702072	33702072	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33702072C>T	uc010dmy.2	-	c.1302G>A	c.(1300-1302)ATG>ATA	p.M434I	SLC39A6_uc002kzj.2_Missense_Mutation_p.M159I	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	434	Helical; Name=3; (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2														0.08	-1.816868	20.667603	10	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33702072	33702072	15119	18	C	T	T	T	221	17	SLC39A6	2	2
EPB41L3	23136	broad.mit.edu	37	18	5397198	5397198	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5397198C>A	uc002kmt.1	-	c.2700G>T	c.(2698-2700)GGG>GGT	p.G900G	EPB41L3_uc010wzh.1_Silent_p.G731G|EPB41L3_uc002kmu.1_Silent_p.G678G|EPB41L3_uc010dkq.1_Silent_p.G569G|EPB41L3_uc002kms.1_Silent_p.G135G|EPB41L3_uc010wze.1_Silent_p.G205G|EPB41L3_uc010wzf.1_Silent_p.G197G|EPB41L3_uc010wzg.1_Silent_p.G172G|EPB41L3_uc010dkr.2_Silent_p.G292G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	900	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.133333	17.85347	31.617184	14	91	KEEP	---	---	---	---	capture		Silent	SNP	5397198	5397198	5347	18	C	A	A	A	275	22	EPB41L3	2	2
CETN1	1068	broad.mit.edu	37	18	580817	580817	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:580817C>A	uc002kko.1	+	c.409C>A	c.(409-411)CTC>ATC	p.L137I		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	137	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			ovary(1)	1														0.130435	7.416883	13.530735	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	580817	580817	3407	18	C	A	A	A	312	24	CETN1	2	2
CDH20	28316	broad.mit.edu	37	18	59212266	59212266	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59212266C>A	uc010dps.1	+	c.1537C>A	c.(1537-1539)CAG>AAG	p.Q513K	CDH20_uc002lif.2_Missense_Mutation_p.Q507K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	513	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.093023	1.166714	8.343073	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59212266	59212266	3235	18	C	A	A	A	273	21	CDH20	2	2
SERPINB2	5055	broad.mit.edu	37	18	61569034	61569035	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61569034_61569035TG>AA	uc010xeu.1	+	c.596_597TG>AA	c.(595-597)GTG>GAA	p.V199E	SERPINB2_uc002ljo.2_Missense_Mutation_p.V199E|SERPINB2_uc010dqh.2_Missense_Mutation_p.V129E|SERPINB2_uc002ljp.1_Missense_Mutation_p.V4E|SERPINB2_uc002ljq.1_Missense_Mutation_p.V4E	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	199					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)									0.08642	0.147208	14.294319	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	61569034	61569035	14589	18	TG	AA	AA	AA	767	59	SERPINB2	3	3
NETO1	81832	broad.mit.edu	37	18	70451114	70451114	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70451114T>A	uc002lkw.2	-	c.667A>T	c.(667-669)ATG>TTG	p.M223L	NETO1_uc002lkx.1_Missense_Mutation_p.M222L|NETO1_uc002lky.1_Missense_Mutation_p.M223L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	223	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.108696	9.817173	23.745351	10	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70451114	70451114	10738	18	T	A	A	A	650	50	NETO1	3	3
MAST1	22983	broad.mit.edu	37	19	12979561	12979561	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12979561C>A	uc002mvm.2	+	c.2671C>A	c.(2671-2673)CAG>AAG	p.Q891K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	891					cytoskeleton organization|intracellular protein kinase cascade|protein phosphorylation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7										239				0.182927	29.69734	37.427775	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12979561	12979561	9708	19	C	A	A	A	325	25	MAST1	2	2
CHERP	10523	broad.mit.edu	37	19	16641682	16641682	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16641682C>A	uc002nei.1	-	c.684G>T	c.(682-684)AAG>AAT	p.K228N	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	228	CID.				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														0.185185	10.959915	13.46804	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16641682	16641682	3470	19	C	A	A	A	363	28	CHERP	2	2
ZNF98	148198	broad.mit.edu	37	19	22605024	22605024	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22605024C>A	uc002nqt.2	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.155844	20.064048	28.764967	12	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22605024	22605024	18807	19	C	A	A	A	325	25	ZNF98	2	2
KIAA0355	9710	broad.mit.edu	37	19	34811000	34811000	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34811000G>T	uc002nvd.3	+	c.684G>T	c.(682-684)CGG>CGT	p.R228R		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	228										ovary(1)	1	Esophageal squamous(110;0.162)													0.307692	45.383544	47.096189	16	36	KEEP	---	---	---	---	capture		Silent	SNP	34811000	34811000	8477	19	G	T	T	T	561	44	KIAA0355	2	2
ARHGAP33	115703	broad.mit.edu	37	19	36277799	36277799	+	Silent	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36277799A>G	uc002obs.1	+	c.1944A>G	c.(1942-1944)GAA>GAG	p.E648E	ARHGAP33_uc002obr.1_Silent_p.E809E|ARHGAP33_uc002obt.1_Silent_p.E673E|ARHGAP33_uc010eel.2_Silent_p.E397E|ARHGAP33_uc002obv.1_Silent_p.E397E	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	648					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.235294	11.492498	12.580958	4	13	KEEP	---	---	---	---	capture		Silent	SNP	36277799	36277799	894	19	A	G	G	G	24	2	ARHGAP33	4	4
FEM1A	55527	broad.mit.edu	37	19	4793717	4793717	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4793717C>A	uc002mbf.2	+	c.1851C>A	c.(1849-1851)GCC>GCA	p.A617A		NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	617					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)										0.176471	4.962544	6.603926	3	14	KEEP	---	---	---	---	capture		Silent	SNP	4793717	4793717	6046	19	C	A	A	A	301	24	FEM1A	2	2
SIGLEC8	27181	broad.mit.edu	37	19	51961365	51961365	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51961365G>T	uc002pwt.2	-	c.277C>A	c.(277-279)CAG>AAG	p.Q93K	SIGLEC8_uc010yda.1_Missense_Mutation_p.Q93K|SIGLEC8_uc002pwu.2_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.Q93K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	93	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.306452	100.493013	104.643085	38	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51961365	51961365	14809	19	G	T	T	T	611	47	SIGLEC8	2	2
KIR3DL1	3811	broad.mit.edu	37	19	55331428	55331428	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55331428T>A	uc002qhk.3	+	c.616T>A	c.(616-618)TTG>ATG	p.L206M	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L148M|KIR3DL1_uc010esf.2_Missense_Mutation_p.L111M|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L148M|KIR3DL1_uc002qhl.3_Missense_Mutation_p.L206M	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	206	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.088	1.34221	22.884352	11	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55331428	55331428	8632	19	T	A	A	A	777	60	KIR3DL1	3	3
KIR3DL1	3811	broad.mit.edu	37	19	55331438	55331438	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55331438C>A	uc002qhk.3	+	c.626C>A	c.(625-627)CCC>CAC	p.P209H	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P151H|KIR3DL1_uc010esf.2_Missense_Mutation_p.P114H|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P151H|KIR3DL1_uc002qhl.3_Missense_Mutation_p.P209H	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	209	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.086207	0.571007	20.695529	10	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55331438	55331438	8632	19	C	A	A	A	286	22	KIR3DL1	2	2
ZNF419	79744	broad.mit.edu	37	19	58002838	58002838	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58002838G>T	uc010ety.1	+	c.75G>T	c.(73-75)CAG>CAT	p.Q25H	ZNF547_uc002qpm.3_Intron|ZNF419_uc002qov.2_Splice_Site_SNP_p.G25_splice|ZNF419_uc010etz.1_Missense_Mutation_p.Q12H|ZNF419_uc010eua.1_Splice_Site_SNP_p.G12_splice|ZNF419_uc002qow.2_Missense_Mutation_p.Q25H|ZNF419_uc010eub.1_Missense_Mutation_p.Q12H|ZNF419_uc010euc.1_Splice_Site_SNP_p.G12_splice	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 1	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)										0.191176	29.433013	35.495191	13	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58002838	58002838	18489	19	G	T	T	T	455	35	ZNF419	2	2
MUC16	94025	broad.mit.edu	37	19	9077714	9077715	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9077714_9077715TG>CT	uc002mkp.2	-	c.9731_9732CA>AG	c.(9730-9732)CCA>CAG	p.P3244Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3245	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.144578	22.456971	32.538155	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	9077714	9077715	10367	19	TG	CT	CT	CT	704	55	MUC16	4	4
ZNF317	57693	broad.mit.edu	37	19	9271087	9271087	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9271087G>T	uc002mku.2	+	c.766G>T	c.(766-768)GGG>TGG	p.G256W	ZNF317_uc002mkv.2_Missense_Mutation_p.G115W|ZNF317_uc002mkw.2_Missense_Mutation_p.G224W|ZNF317_uc002mkx.2_Missense_Mutation_p.G171W|ZNF317_uc002mky.2_Missense_Mutation_p.G139W	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	256	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.230769	31.498323	34.934868	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9271087	9271087	18427	19	G	T	T	T	507	39	ZNF317	1	1
ZNF317	57693	broad.mit.edu	37	19	9271256	9271256	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9271256G>T	uc002mku.2	+	c.935G>T	c.(934-936)GGG>GTG	p.G312V	ZNF317_uc002mkv.2_Missense_Mutation_p.G171V|ZNF317_uc002mkw.2_Missense_Mutation_p.G280V|ZNF317_uc002mkx.2_Missense_Mutation_p.G227V|ZNF317_uc002mky.2_Missense_Mutation_p.G195V	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	312	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.147541	12.026191	19.323097	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9271256	9271256	18427	19	G	T	T	T	559	43	ZNF317	2	2
OLFM3	118427	broad.mit.edu	37	1	102290750	102290750	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102290750G>T	uc001duf.2	-	c.484C>A	c.(484-486)CAG>AAG	p.Q162K	OLFM3_uc001dug.2_Missense_Mutation_p.Q142K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.Q67K|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	162	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.179487	14.392114	18.176869	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102290750	102290750	11259	1	G	T	T	T	624	48	OLFM3	2	2
WDR47	22911	broad.mit.edu	37	1	109525251	109525251	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109525251T>C	uc001dwl.2	-	c.2270A>G	c.(2269-2271)CAT>CGT	p.H757R	WDR47_uc001dwi.2_Missense_Mutation_p.H750R|WDR47_uc001dwj.2_Missense_Mutation_p.H749R|WDR47_uc010ovf.1_Missense_Mutation_p.H674R	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 1	749										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)										0.144144	26.485798	39.977668	16	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109525251	109525251	17873	1	T	C	C	C	663	51	WDR47	4	4
GPR61	83873	broad.mit.edu	37	1	110086058	110086058	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110086058G>T	uc001dxy.2	+	c.414G>T	c.(412-414)GTG>GTT	p.V138V		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	138	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)										0.084337	2.1615	16.717892	7	76	KEEP	---	---	---	---	capture		Silent	SNP	110086058	110086058	6977	1	G	T	T	T	600	47	GPR61	2	2
CD101	9398	broad.mit.edu	37	1	117552674	117552674	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117552674C>T	uc010oxb.1	+	c.246C>T	c.(244-246)TAC>TAT	p.Y82Y	CD101_uc009whd.2_Silent_p.Y82Y|CD101_uc010oxc.1_Silent_p.Y82Y|CD101_uc010oxd.1_Silent_p.Y82Y	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	82	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(1)	1														0.117647	6.370132	13.652395	6	45	KEEP	---	---	---	---	capture		Silent	SNP	117552674	117552674	3089	1	C	T	T	T	246	19	CD101	1	1
WARS2	10352	broad.mit.edu	37	1	119575563	119575563	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119575563C>A	uc001ehn.2	-	c.1054G>T	c.(1054-1056)GAG>TAG	p.E352*	WARS2_uc010oxf.1_Nonsense_Mutation_p.E258*|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Nonsense_Mutation_p.E295*|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	352					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)									0.101695	3.402646	12.744473	6	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119575563	119575563	17822	1	C	A	A	A	390	30	WARS2	5	2
PDE4DIP	9659	broad.mit.edu	37	1	144857684	144857684	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144857684G>C	uc001elw.3	-	c.6370C>G	c.(6370-6372)CCA>GCA	p.P2124A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.P2018A|PDE4DIP_uc001elv.3_Missense_Mutation_p.P1131A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2124					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.072848	-9.861775	18.475397	11	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144857684	144857684	12064	1	G	C	C	C	559	43	PDE4DIP	3	3
PRUNE	58497	broad.mit.edu	37	1	151006549	151006549	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151006549G>T	uc001ewh.1	+	c.1201G>T	c.(1201-1203)GAT>TAT	p.D401Y	PRUNE_uc001ewi.1_Missense_Mutation_p.D219Y|PRUNE_uc010pco.1_Missense_Mutation_p.D169Y|PRUNE_uc001ewj.1_Missense_Mutation_p.D116Y|PRUNE_uc001ewk.1_Missense_Mutation_p.D166Y|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	401	Essential for homodimerization.					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)											0.096386	4.838167	18.39338	8	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151006549	151006549	13091	1	G	T	T	T	429	33	PRUNE	2	2
FLG	2312	broad.mit.edu	37	1	152277601	152277601	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277601G>T	uc001ezu.1	-	c.9761C>A	c.(9760-9762)CCC>CAC	p.P3254H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.058824	-24.675069	37.680064	18	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152277601	152277601	6160	1	G	T	T	T	559	43	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152285039	152285039	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152285039G>T	uc001ezu.1	-	c.2323C>A	c.(2323-2325)CAC>AAC	p.H775N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.041322	-55.52725	26.590329	15	348	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152285039	152285039	6160	1	G	T	T	T	611	47	FLG	2	2
C1orf77	26097	broad.mit.edu	37	1	153609129	153609129	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153609129G>T	uc001fcn.1	+	c.65G>T	c.(64-66)CGC>CTC	p.R22L	C1orf77_uc001fcm.1_Missense_Mutation_p.R22L|C1orf77_uc001fco.1_5'UTR|S100A13_uc001fcj.2_5'Flank|C1orf77_uc009woi.1_Missense_Mutation_p.R22L|C1orf77_uc009woj.1_Missense_Mutation_p.R22L	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	small protein rich in arginine and glycine	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.375	33.010041	33.441331	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153609129	153609129	2135	1	G	T	T	T	507	39	C1orf77	1	1
FCRL3	115352	broad.mit.edu	37	1	157665181	157665181	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157665181G>T	uc001fqz.3	-	c.1349C>A	c.(1348-1350)TCC>TAC	p.S450Y	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Missense_Mutation_p.S176Y|FCRL3_uc001frb.2_Missense_Mutation_p.S450Y|FCRL3_uc001frc.1_Missense_Mutation_p.S450Y	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	450	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.047244	-16.514038	11.179904	6	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157665181	157665181	6033	1	G	T	T	T	533	41	FCRL3	2	2
CTRC	11330	broad.mit.edu	37	1	15771101	15771101	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15771101C>G	uc001awi.1	+	c.494C>G	c.(493-495)ACC>AGC	p.T165S	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	165	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.212121	14.405045	16.936216	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15771101	15771101	4186	1	C	G	G	G	338	26	CTRC	3	3
CTRC	11330	broad.mit.edu	37	1	15771105	15771105	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15771105C>A	uc001awi.1	+	c.498C>A	c.(496-498)AAC>AAA	p.N166K	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	166	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.242424	21.584265	23.579982	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15771105	15771105	4186	1	C	A	A	A	246	19	CTRC	1	1
CD1B	910	broad.mit.edu	37	1	158299789	158299789	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158299789C>A	uc001frx.2	-	c.460G>T	c.(460-462)GAA>TAA	p.E154*	CD1B_uc001frw.2_Nonsense_Mutation_p.E47*	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	154	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.113772	18.236046	42.786624	19	148	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158299789	158299789	3102	1	C	A	A	A	416	32	CD1B	5	2
SPTA1	6708	broad.mit.edu	37	1	158589026	158589026	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158589026C>A	uc001fst.1	-	c.6516G>T	c.(6514-6516)TGG>TGT	p.W2172C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2172	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.075758	-1.179812	10.999881	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158589026	158589026	15630	1	C	A	A	A	390	30	SPTA1	2	2
VANGL2	57216	broad.mit.edu	37	1	160385911	160385911	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160385911T>G	uc001fwb.1	+	c.131T>G	c.(130-132)GTG>GGG	p.V44G	VANGL2_uc001fwc.1_Missense_Mutation_p.V44G	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	44	Cytoplasmic (Potential).				apical protein localization|heart looping|sensory cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.115385	6.040376	13.595479	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160385911	160385911	17685	1	T	G	G	G	767	59	VANGL2	4	4
CD244	51744	broad.mit.edu	37	1	160811258	160811258	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160811258G>T	uc009wtq.2	-	c.412C>A	c.(412-414)CGC>AGC	p.R138S	CD244_uc001fxa.2_Missense_Mutation_p.R133S|CD244_uc009wtp.2_Non-coding_Transcript|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	138	Extracellular (Potential).|Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.09434	2.135404	10.897705	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160811258	160811258	3115	1	G	T	T	T	507	39	CD244	1	1
SPATA21	374955	broad.mit.edu	37	1	16736440	16736440	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16736440G>T	uc001ayn.2	-	c.243C>A	c.(241-243)TTC>TTA	p.F81L	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.1_Missense_Mutation_p.F58L	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	81							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)										0.12	6.812639	13.898059	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16736440	16736440	15515	1	G	T	T	T	529	41	SPATA21	2	2
MYOC	4653	broad.mit.edu	37	1	171607754	171607754	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171607754C>T	uc001ghu.2	-	c.713G>A	c.(712-714)AGT>AAT	p.S238N	MYOC_uc010pmk.1_Missense_Mutation_p.S180N	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	238					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)													0.096154	8.410784	25.382168	10	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171607754	171607754	10481	1	C	T	T	T	260	20	MYOC	2	2
PAPPA2	60676	broad.mit.edu	37	1	176525751	176525751	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176525751A>T	uc001gkz.2	+	c.293A>T	c.(292-294)GAC>GTC	p.D98V	PAPPA2_uc001gky.1_Missense_Mutation_p.D98V|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	98					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.121622	21.606274	42.316497	18	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176525751	176525751	11850	1	A	T	T	T	130	10	PAPPA2	3	3
PTPRC	5788	broad.mit.edu	37	1	198677355	198677355	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198677355G>C	uc001gur.1	+	c.992G>C	c.(991-993)TGT>TCT	p.C331S	PTPRC_uc001gus.1_Missense_Mutation_p.C283S|PTPRC_uc001gut.1_Missense_Mutation_p.C170S|PTPRC_uc009wzf.1_Missense_Mutation_p.C219S|PTPRC_uc010ppg.1_Missense_Mutation_p.C267S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	331	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.178571	23.626621	29.063543	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198677355	198677355	13254	1	G	C	C	C	624	48	PTPRC	3	3
ZNF281	23528	broad.mit.edu	37	1	200376396	200376396	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200376396T>A	uc001gve.2	-	c.2438A>T	c.(2437-2439)CAG>CTG	p.Q813L	ZNF281_uc001gvf.1_Missense_Mutation_p.Q813L|ZNF281_uc001gvg.1_Missense_Mutation_p.Q777L	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	813					negative regulation of transcription from RNA polymerase II promoter	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|breast(1)	2														0.058824	-5.92874	14.85603	6	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200376396	200376396	18410	1	T	A	A	A	715	55	ZNF281	3	3
NFASC	23114	broad.mit.edu	37	1	204985582	204985582	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204985582C>A	uc001hbj.2	+	c.3638C>A	c.(3637-3639)ACG>AAG	p.T1213K	NFASC_uc010pra.1_Missense_Mutation_p.T1147K|NFASC_uc001hbi.2_Missense_Mutation_p.T1142K|NFASC_uc010prb.1_Missense_Mutation_p.T1162K|NFASC_uc010prc.1_Missense_Mutation_p.T713K|NFASC_uc001hbl.1_Missense_Mutation_p.T289K|NFASC_uc001hbm.1_Missense_Mutation_p.T236K|NFASC_uc009xbh.1_Silent_p.R68R|NFASC_uc001hbo.1_Silent_p.R89R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1320	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.151515	21.524215	29.18461	10	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204985582	204985582	10759	1	C	A	A	A	247	19	NFASC	1	1
CENPF	1063	broad.mit.edu	37	1	214816078	214816078	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214816078T>C	uc001hkm.2	+	c.4397T>C	c.(4396-4398)CTG>CCG	p.L1466P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1562	1-2.|2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.15625	14.777433	22.071696	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214816078	214816078	3364	1	T	C	C	C	715	55	CENPF	4	4
USH2A	7399	broad.mit.edu	37	1	216144087	216144087	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216144087A>T	uc001hku.1	-	c.6837T>A	c.(6835-6837)GAT>GAA	p.D2279E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2279	Fibronectin type-III 9.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.139535	20.972053	31.741921	12	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216144087	216144087	17598	1	A	T	T	T	102	8	USH2A	3	3
GALNT2	2590	broad.mit.edu	37	1	230379104	230379104	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230379104G>T	uc010pwa.1	+	c.660G>T	c.(658-660)CTG>CTT	p.L220L	GALNT2_uc010pvy.1_Silent_p.L182L|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	220	Lumenal (Potential).|Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.145161	10.557031	18.063936	9	53	KEEP	---	---	---	---	capture		Silent	SNP	230379104	230379104	6477	1	G	T	T	T	574	45	GALNT2	2	2
ACTN2	88	broad.mit.edu	37	1	236912455	236912455	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236912455A>T	uc001hyf.2	+	c.1547A>T	c.(1546-1548)CAG>CTG	p.Q516L	ACTN2_uc001hyg.2_Missense_Mutation_p.Q308L|ACTN2_uc009xgi.1_Missense_Mutation_p.Q516L|ACTN2_uc010pxu.1_Missense_Mutation_p.Q205L|ACTN2_uc001hyh.2_Missense_Mutation_p.Q204L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	516	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.192771	37.85046	45.166802	16	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236912455	236912455	206	1	A	T	T	T	91	7	ACTN2	3	3
FH	2271	broad.mit.edu	37	1	241665847	241665847	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241665847C>A	uc001hyx.2	-	c.1132G>T	c.(1132-1134)GAA>TAA	p.E378*		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	378					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.112903	7.177979	16.351326	7	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	241665847	241665847	6112	1	C	A	A	A	377	29	FH	5	2
PLD5	200150	broad.mit.edu	37	1	242253259	242253259	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242253259T>A	uc001hzo.1	-	c.1232A>T	c.(1231-1233)CAG>CTG	p.Q411L	PLD5_uc001hzl.3_Missense_Mutation_p.Q441L|PLD5_uc001hzm.3_Missense_Mutation_p.Q293L|PLD5_uc001hzn.1_Missense_Mutation_p.Q503L	NM_152666	NP_689879	Q8N7P1	PLD5_HUMAN	phospholipase D5	503						integral to membrane	catalytic activity			ovary(5)	5	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)											0.107981	22.482949	55.020336	23	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242253259	242253259	12475	1	T	A	A	A	715	55	PLD5	3	3
ZNF695	57116	broad.mit.edu	37	1	247162722	247162722	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247162722C>A	uc009xgu.2	-	c.187G>T	c.(187-189)GAA>TAA	p.E63*	ZNF695_uc001ica.2_Non-coding_Transcript|ZNF695_uc001icb.1_Non-coding_Transcript|ZNF695_uc009xgt.1_Non-coding_Transcript|ZNF695_uc001ibx.2_Nonsense_Mutation_p.E63*|ZNF695_uc001iby.2_Non-coding_Transcript|ZNF695_uc001icc.2_Nonsense_Mutation_p.E51*	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	63	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)											0.097561	3.374274	10.018292	4	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247162722	247162722	18693	1	C	A	A	A	416	32	ZNF695	5	2
OR2G2	81470	broad.mit.edu	37	1	247751824	247751824	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247751824G>T	uc010pyy.1	+	c.163G>T	c.(163-165)GAA>TAA	p.E55*		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.2	66.69567	80.142755	32	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247751824	247751824	11404	1	G	T	T	T	533	41	OR2G2	5	2
OR2T8	343172	broad.mit.edu	37	1	248084469	248084469	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248084469C>A	uc010pzc.1	+	c.150C>A	c.(148-150)GAC>GAA	p.D50E		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	50	Cytoplasmic (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)											0.063492	-4.245691	8.243661	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248084469	248084469	11436	1	C	A	A	A	233	18	OR2T8	2	2
OR14C36	127066	broad.mit.edu	37	1	248512312	248512312	+	Nonsense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248512312C>G	uc010pzl.1	+	c.236C>G	c.(235-237)TCA>TGA	p.S79*		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.131148	13.376214	21.428854	8	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248512312	248512312	11352	1	C	G	G	G	377	29	OR14C36	5	3
SH3BP5L	80851	broad.mit.edu	37	1	249106302	249106302	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249106302C>A	uc001iew.1	-	c.979G>T	c.(979-981)GCC>TCC	p.A327S	SH3BP5L_uc010pzp.1_Missense_Mutation_p.A220S|SH3BP5L_uc010pzq.1_Missense_Mutation_p.A295S|SH3BP5L_uc001iev.1_Missense_Mutation_p.A208S	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	327											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)											0.2	6.316684	7.572938	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249106302	249106302	14739	1	C	A	A	A	351	27	SH3BP5L	1	1
ACTRT2	140625	broad.mit.edu	37	1	2938505	2938505	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2938505C>A	uc001ajz.2	+	c.255C>A	c.(253-255)GAC>GAA	p.D85E		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	85						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)										0.126582	13.303938	24.052776	10	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2938505	2938505	220	1	C	A	A	A	246	19	ACTRT2	1	1
CLSPN	63967	broad.mit.edu	37	1	36226071	36226071	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36226071C>A	uc001bzi.2	-	c.1451G>T	c.(1450-1452)GGG>GTG	p.G484V	CLSPN_uc009vux.2_Missense_Mutation_p.G484V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	484					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			ovary(2)|breast(2)|kidney(1)|lung(1)|central_nervous_system(1)	7		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.177419	44.168327	56.250075	22	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36226071	36226071	3698	1	C	A	A	A	286	22	CLSPN	2	2
GJA9	81025	broad.mit.edu	37	1	39341324	39341324	+	Silent	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39341324G>C	uc001cct.1	-	c.447C>G	c.(445-447)CTC>CTG	p.L149L	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	149	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)											0.107143	10.297195	27.524841	12	100	KEEP	---	---	---	---	capture		Silent	SNP	39341324	39341324	6674	1	G	C	C	C	574	45	GJA9	3	3
MACF1	23499	broad.mit.edu	37	1	39549929	39549929	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39549929A>T	uc010oir.1	+	c.26A>T	c.(25-27)CAT>CTT	p.H9L	MACF1_uc010ois.1_Silent_p.S13S	abp620		Q9UPN3	MACF1_HUMAN	Homo sapiens mRNA for actin binding protein ABP620, complete cds.	Error:Variant_position_missing_in_Q9UPN3_after_alignment					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.117647	5.180385	10.062232	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39549929	39549929	9521	1	A	T	T	T	93	8	MACF1	3	3
TESK2	10420	broad.mit.edu	37	1	45810546	45810546	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45810546A>C	uc001cns.1	-	c.1682T>G	c.(1681-1683)ATA>AGA	p.I561R	TESK2_uc009vxr.1_Missense_Mutation_p.I532R|TESK2_uc010olo.1_Missense_Mutation_p.I478R|TESK2_uc009vxs.1_Missense_Mutation_p.I353R	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	561					actin cytoskeleton organization|focal adhesion assembly|protein phosphorylation|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)									192				0.090909	3.75684	13.013395	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45810546	45810546	16295	1	A	C	C	C	208	16	TESK2	4	4
FAF1	11124	broad.mit.edu	37	1	50957420	50957420	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:50957420G>A	uc009vyx.1	-	c.1548C>T	c.(1546-1548)CGC>CGT	p.R516R	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc001cse.1_Silent_p.R516R|FAF1_uc010onc.1_Silent_p.R274R	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	516					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)										0.130435	12.28233	21.403828	9	60	KEEP	---	---	---	---	capture		Silent	SNP	50957420	50957420	5566	1	G	A	A	A	535	42	FAF1	2	2
DAB1	1600	broad.mit.edu	37	1	57476938	57476938	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57476938G>T	uc001cys.1	-	c.1452C>A	c.(1450-1452)ACC>ACA	p.T484T	DAB1_uc001cyt.1_Silent_p.T482T|DAB1_uc001cyq.1_Silent_p.T482T|DAB1_uc001cyr.1_Silent_p.T398T|DAB1_uc009vzw.1_Silent_p.T466T|DAB1_uc009vzx.1_Silent_p.T484T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	517					cell differentiation|nervous system development					ovary(1)	1									p.P483T(SNU5-Tumor)	395				0.089286	1.135461	10.674422	5	51	KEEP	---	---	---	---	capture		Silent	SNP	57476938	57476938	4383	1	G	T	T	T	548	43	DAB1	2	2
CHD5	26038	broad.mit.edu	37	1	6203992	6203992	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6203992C>A	uc001amb.1	-	c.1935_splice	c.e13-1	p.R645_splice	CHD5_uc001ama.1_Splice_Site_SNP|CHD5_uc001amc.1_Splice_Site_SNP	NM_015557	NP_056372			chromodomain helicase DNA binding protein 5						chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.113636	8.815862	21.755649	10	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6203992	6203992	3462	1	C	A	A	A	312	24	CHD5	5	2
USP33	23032	broad.mit.edu	37	1	78167087	78167087	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78167087C>T	uc001dht.2	-	c.2569G>A	c.(2569-2571)GAA>AAA	p.E857K	USP33_uc001dhs.2_Intron|USP33_uc001dhu.2_Missense_Mutation_p.E826K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	857	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1						Melanoma(152;72 1870 11110 26780 42647)								0.089109	4.620488	21.821847	9	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78167087	78167087	17628	1	C	T	T	T	416	32	USP33	2	2
GIPC2	54810	broad.mit.edu	37	1	78511902	78511902	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78511902C>A	uc001dik.2	+	c.124C>A	c.(124-126)CTG>ATG	p.L42M		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	42						cytoplasm				ovary(1)	1														0.416667	14.475589	14.547536	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78511902	78511902	6661	1	C	A	A	A	363	28	GIPC2	2	2
ZNF644	84146	broad.mit.edu	37	1	91405405	91405405	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91405405C>A	uc001dnw.2	-	c.1506G>T	c.(1504-1506)GTG>GTT	p.V502V	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.V502V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	502	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)										0.090909	7.366246	27.748266	11	110	KEEP	---	---	---	---	capture		Silent	SNP	91405405	91405405	18655	1	C	A	A	A	210	17	ZNF644	2	2
AGRN	375790	broad.mit.edu	37	1	979211	979212	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:979211_979212GG>TT	uc001ack.1	+	c.1807_1808GG>TT	c.(1807-1809)GGA>TTA	p.G603L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	603					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)										0.162162	11.546313	15.546188	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	979211	979212	400	1	GG	TT	TT	TT	611	47	AGRN	2	2
LPPR4	9890	broad.mit.edu	37	1	99771695	99771695	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771695C>A	uc001dse.2	+	c.1421C>A	c.(1420-1422)CCC>CAC	p.P474H	LPPR4_uc010oue.1_Missense_Mutation_p.P416H	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	474							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.084906	2.291313	20.822419	9	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99771695	99771695	9300	1	C	A	A	A	286	22	LPPR4	2	2
MACROD2	140733	broad.mit.edu	37	20	15967720	15967720	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:15967720C>T	uc002wou.2	+	c.1070C>T	c.(1069-1071)TCA>TTA	p.S357L	MACROD2_uc002wot.2_Missense_Mutation_p.S357L|MACROD2_uc002woz.2_Missense_Mutation_p.S122L|MACROD2_uc002wpb.2_Missense_Mutation_p.S122L|MACROD2_uc002wpd.2_Missense_Mutation_p.S8L	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	357	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)												0.123288	12.020016	22.158789	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15967720	15967720	9523	20	C	T	T	T	377	29	MACROD2	2	2
STK35	140901	broad.mit.edu	37	20	2097421	2097421	+	Silent	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2097421A>T	uc010gak.2	+	c.1002A>T	c.(1000-1002)CCA>CCT	p.P334P	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.P201P	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	334	Protein kinase.				protein phosphorylation	cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										88				0.17094	35.907685	47.924507	20	97	KEEP	---	---	---	---	capture		Silent	SNP	2097421	2097421	15821	20	A	T	T	T	80	7	STK35	3	3
KCNQ2	3785	broad.mit.edu	37	20	62076626	62076626	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62076626C>A	uc002yey.1	-	c.479G>T	c.(478-480)CGG>CTG	p.R160L	KCNQ2_uc002yez.1_Missense_Mutation_p.R160L|KCNQ2_uc002yfa.1_Missense_Mutation_p.R160L|KCNQ2_uc002yfb.1_Missense_Mutation_p.R160L|KCNQ2_uc011aax.1_Missense_Mutation_p.R160L|KCNQ2_uc002yfc.1_Missense_Mutation_p.R160L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	160	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.137255	9.602744	16.095817	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62076626	62076626	8388	20	C	A	A	A	299	23	KCNQ2	1	1
PLCB1	23236	broad.mit.edu	37	20	8717677	8717677	+	Silent	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8717677T>A	uc002wnb.2	+	c.2046T>A	c.(2044-2046)ATT>ATA	p.I682I	PLCB1_uc010zrb.1_Silent_p.I581I|PLCB1_uc002wna.2_Silent_p.I682I|PLCB1_uc002wnc.1_Silent_p.I581I|PLCB1_uc002wnd.1_Silent_p.I259I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	682	C2.				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														0.216216	34.756036	40.258631	16	58	KEEP	---	---	---	---	capture		Silent	SNP	8717677	8717677	12453	20	T	A	A	A	783	61	PLCB1	3	3
C20orf103	24141	broad.mit.edu	37	20	9510422	9510422	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9510422G>C	uc002wni.1	+	c.798G>C	c.(796-798)CAG>CAC	p.Q266H	C20orf103_uc010zrc.1_Missense_Mutation_p.Q222H	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	266	Cytoplasmic (Potential).					integral to membrane				lung(1)|breast(1)	2			COAD - Colon adenocarcinoma(9;0.194)											0.189655	23.593233	28.817225	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9510422	9510422	2151	20	G	C	C	C	451	35	C20orf103	3	3
SH3BGR	6450	broad.mit.edu	37	21	40871811	40871811	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40871811G>T	uc002yya.2	+	c.564G>T	c.(562-564)GTG>GTT	p.V188V	SH3BGR_uc002yxz.2_Silent_p.V77V	NM_007341	NP_031367	P55822	SH3BG_HUMAN	SH3-binding domain and glutamic acid-rich	188	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity				0		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)										0.095238	2.868224	9.773997	4	38	KEEP	---	---	---	---	capture		Silent	SNP	40871811	40871811	14731	21	G	T	T	T	600	47	SH3BGR	2	2
GAB4	128954	broad.mit.edu	37	22	17446080	17446080	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17446080C>A	uc002zlw.2	-	c.1367G>T	c.(1366-1368)TGG>TTG	p.W456L		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	456										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.285714	16.944569	17.807904	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17446080	17446080	6402	22	C	A	A	A	273	21	GAB4	2	2
GAB4	128954	broad.mit.edu	37	22	17472786	17472786	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17472786C>A	uc002zlw.2	-	c.455G>T	c.(454-456)GGC>GTC	p.G152V	GAB4_uc010gqs.1_Missense_Mutation_p.G152V	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	152	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.168269	60.132844	81.857226	35	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17472786	17472786	6402	22	C	A	A	A	338	26	GAB4	2	2
EFCAB6	64800	broad.mit.edu	37	22	44178097	44178097	+	Silent	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44178097T>A	uc003bdy.1	-	c.102A>T	c.(100-102)TCA>TCT	p.S34S	EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_5'UTR|EFCAB6_uc011aqa.1_5'UTR|EFCAB6_uc003bea.1_Silent_p.S31S|EFCAB6_uc003beb.3_5'UTR	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.206522	44.073323	51.419071	19	73	KEEP	---	---	---	---	capture		Silent	SNP	44178097	44178097	5126	22	T	A	A	A	808	63	EFCAB6	3	3
FBLN1	2192	broad.mit.edu	37	22	45972975	45972975	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45972975C>A	uc003bgj.1	+	c.1959C>A	c.(1957-1959)GAC>GAA	p.D653E		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	653					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.230769	16.058155	17.769934	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45972975	45972975	5934	22	C	A	A	A	246	19	FBLN1	1	1
SLC9A2	6549	broad.mit.edu	37	2	103324831	103324831	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103324831C>A	uc002tca.2	+	c.2322C>A	c.(2320-2322)GGC>GGA	p.G774G		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.295918	75.839484	79.489075	29	69	KEEP	---	---	---	---	capture		Silent	SNP	103324831	103324831	15209	2	C	A	A	A	353	28	SLC9A2	2	2
IL1F9	56300	broad.mit.edu	37	2	113742497	113742497	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113742497C>A	uc002tio.1	+	c.381C>A	c.(379-381)ACC>ACA	p.T127T	IL1F9_uc010fkr.1_Silent_p.T92T	NM_019618	NP_062564	Q9NZH8	IL1F9_HUMAN	interleukin 1 family, member 9	127					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(44;715 981 6239 42838 46707)								0.295082	47.635912	49.921986	18	43	KEEP	---	---	---	---	capture		Silent	SNP	113742497	113742497	7958	2	C	A	A	A	301	24	IL1F9	2	2
CCDC93	54520	broad.mit.edu	37	2	118716003	118716003	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118716003G>A	uc002tlj.2	-	c.943C>T	c.(943-945)CAT>TAT	p.H315Y	CCDC93_uc010fld.1_Missense_Mutation_p.H315Y	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	315	Potential.		H -> R (in a colorectal cancer sample; somatic mutation).							large_intestine(1)|ovary(1)	2														0.183673	18.548613	23.147756	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118716003	118716003	2997	2	G	A	A	A	624	48	CCDC93	2	2
CCNT2	905	broad.mit.edu	37	2	135711220	135711220	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135711220A>G	uc002tuc.1	+	c.1195A>G	c.(1195-1197)AAA>GAA	p.K399E	CCNT2_uc002tub.1_Missense_Mutation_p.K399E|CCNT2_uc010zbf.1_Missense_Mutation_p.K224E|CCNT2_uc002tud.1_Missense_Mutation_p.K62E	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	399					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)										0.213115	29.738334	34.510313	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135711220	135711220	3062	2	A	G	G	G	65	5	CCNT2	4	4
XIRP2	129446	broad.mit.edu	37	2	168107435	168107435	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168107435G>T	uc002udx.2	+	c.9533G>T	c.(9532-9534)CGC>CTC	p.R3178L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3003L|XIRP2_uc010fpq.2_Missense_Mutation_p.R2956L|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3003					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.234375	36.105759	40.230516	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168107435	168107435	18011	2	G	T	T	T	494	38	XIRP2	1	1
FASTKD1	79675	broad.mit.edu	37	2	170401296	170401296	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170401296T>A	uc002uev.3	-	c.1751A>T	c.(1750-1752)AAC>ATC	p.N584I	FASTKD1_uc002uew.3_Non-coding_Transcript|FASTKD1_uc002uex.3_Missense_Mutation_p.N570I	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	584					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4														0.285714	16.340604	17.20639	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170401296	170401296	5921	2	T	A	A	A	780	60	FASTKD1	3	3
RAPGEF4	11069	broad.mit.edu	37	2	173679007	173679007	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173679007G>T	uc002uhv.3	+	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	RAPGEF4_uc002uhu.2_Missense_Mutation_p.D100Y|RAPGEF4_uc010fqn.2_Missense_Mutation_p.D83Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	100	cAMP 1.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.194)											0.155172	16.488379	23.035185	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173679007	173679007	13506	2	G	T	T	T	533	41	RAPGEF4	2	2
TTN	7273	broad.mit.edu	37	2	179438859	179438859	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179438859G>C	uc010zfg.1	-	c.64296C>G	c.(64294-64296)ATC>ATG	p.I21432M	TTN_uc010zfh.1_Missense_Mutation_p.I15127M|TTN_uc010zfi.1_Missense_Mutation_p.I15060M|TTN_uc010zfj.1_Missense_Mutation_p.I14935M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1263										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.132075	7.938107	14.926544	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179438859	179438859	17290	2	G	C	C	C	473	37	TTN	3	3
ITGA4	3676	broad.mit.edu	37	2	182363443	182363443	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182363443C>A	uc002unu.2	+	c.1634C>A	c.(1633-1635)ACA>AAA	p.T545K	ITGA4_uc010frj.1_Missense_Mutation_p.T27K	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	545	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.259259	37.118629	39.962325	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182363443	182363443	8182	2	C	A	A	A	221	17	ITGA4	2	2
MYT1L	23040	broad.mit.edu	37	2	1891332	1891332	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1891332G>C	uc002qxe.2	-	c.2570C>G	c.(2569-2571)CCC>CGC	p.P857R	MYT1L_uc002qxd.2_Missense_Mutation_p.P855R|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	857					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.218391	41.576712	47.93984	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1891332	1891332	10502	2	G	C	C	C	559	43	MYT1L	3	3
CCDC150	284992	broad.mit.edu	37	2	197583345	197583345	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197583345A>G	uc002utp.1	+	c.1985A>G	c.(1984-1986)GAA>GGA	p.E662G	CCDC150_uc010zgs.1_Missense_Mutation_p.E309G|CCDC150_uc010zgt.1_Missense_Mutation_p.E79G|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	662	Potential.										0														0.258065	21.575329	23.229342	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197583345	197583345	2905	2	A	G	G	G	117	9	CCDC150	4	4
SATB2	23314	broad.mit.edu	37	2	200298174	200298174	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200298174C>G	uc002uuy.1	-	c.233G>C	c.(232-234)AGA>ACA	p.R78T	SATB2_uc010fsq.1_Missense_Mutation_p.R78T|SATB2_uc002uuz.1_Missense_Mutation_p.R78T|SATB2_uc002uva.1_Missense_Mutation_p.R78T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	78						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.125	11.655205	20.448187	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200298174	200298174	14335	2	C	G	G	G	416	32	SATB2	3	3
ORC2L	4999	broad.mit.edu	37	2	201785791	201785791	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201785791G>C	uc002uwr.2	-	c.1219C>G	c.(1219-1221)CAA>GAA	p.Q407E	ORC2L_uc010zhj.1_Missense_Mutation_p.Q407E	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	407					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0														0.225	25.573898	28.33859	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201785791	201785791	11673	2	G	C	C	C	598	46	ORC2L	3	3
FZD7	8324	broad.mit.edu	37	2	202901037	202901037	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202901037C>T	uc002uyw.1	+	c.1667C>T	c.(1666-1668)TCG>TTG	p.S556L		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	556	Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family members (By similarity).|Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)	3														0.26	32.475516	35.069242	13	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202901037	202901037	6386	2	C	T	T	T	403	31	FZD7	1	1
FZD7	8324	broad.mit.edu	37	2	202901043	202901043	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202901043G>T	uc002uyw.1	+	c.1673G>T	c.(1672-1674)CGC>CTC	p.R558L		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	558	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)	3														0.254902	26.522145	29.338853	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202901043	202901043	6386	2	G	T	T	T	494	38	FZD7	1	1
NRP2	8828	broad.mit.edu	37	2	206608158	206608158	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206608158G>T	uc002vaw.2	+	c.1523G>T	c.(1522-1524)GGA>GTA	p.G508V	NRP2_uc002vat.2_Missense_Mutation_p.G508V|NRP2_uc002vau.2_Missense_Mutation_p.G508V|NRP2_uc002vav.2_Missense_Mutation_p.G508V|NRP2_uc002vax.2_Missense_Mutation_p.G508V|NRP2_uc002vay.2_Missense_Mutation_p.G508V|NRP2_uc010fud.2_Missense_Mutation_p.G508V	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	508	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.108108	3.074033	8.707387	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206608158	206608158	11066	2	G	T	T	T	533	41	NRP2	2	2
CRYGC	1420	broad.mit.edu	37	2	208994227	208994227	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208994227G>T	uc002vco.3	-	c.190C>A	c.(190-192)CCC>ACC	p.P64T		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	64	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)										0.184211	25.887488	33.028663	14	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208994227	208994227	4055	2	G	T	T	T	559	43	CRYGC	2	2
CPS1	1373	broad.mit.edu	37	2	211532908	211532908	+	Splice_Site_SNP	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211532908A>G	uc010fur.2	+	c.4021_splice	c.e35-2	p.V1341_splice	CPS1_uc002vee.3_Splice_Site_SNP_p.V1335_splice|CPS1_uc010fus.2_Splice_Site_SNP_p.V884_splice	NM_001122633	NP_001116105			carbamoyl-phosphate synthetase 1 isoform a						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.162791	10.193461	14.849909	7	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	211532908	211532908	3961	2	A	G	G	G	91	7	CPS1	5	4
DES	1674	broad.mit.edu	37	2	220284872	220284872	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220284872C>A	uc002vll.2	+	c.634C>A	c.(634-636)CGA>AGA	p.R212R		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	212	Rod.|Coil 1B.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.118644	11.045834	19.417939	7	52	KEEP	---	---	---	---	capture		Silent	SNP	220284872	220284872	4628	2	C	A	A	A	295	23	DES	1	1
PASK	23178	broad.mit.edu	37	2	242066664	242066664	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242066664C>A	uc010fzl.1	-	c.1666G>T	c.(1666-1668)GAG>TAG	p.E556*	PASK_uc010zol.1_Nonsense_Mutation_p.E370*|PASK_uc002wao.1_Nonsense_Mutation_p.E556*|PASK_uc010zom.1_Nonsense_Mutation_p.E521*|PASK_uc010zon.1_Nonsense_Mutation_p.E337*|PASK_uc002wap.2_Nonsense_Mutation_p.E99*|PASK_uc002waq.2_Nonsense_Mutation_p.E556*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	556					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.061947	-8.766952	13.851929	7	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	242066664	242066664	11889	2	C	A	A	A	377	29	PASK	5	2
GAL3ST2	64090	broad.mit.edu	37	2	242741221	242741221	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242741221C>A	uc002wcj.1	+	c.145C>A	c.(145-147)CCG>ACG	p.P49T		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	49	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)										0.142857	6.7524	11.060998	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242741221	242741221	6462	2	C	A	A	A	338	26	GAL3ST2	2	2
DPYSL5	56896	broad.mit.edu	37	2	27167645	27167645	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27167645G>T	uc002rhu.3	+	c.1562G>T	c.(1561-1563)CGG>CTG	p.R521L	DPYSL5_uc002rhv.3_Missense_Mutation_p.R521L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	521					axon guidance|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.166667	20.988398	27.947969	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27167645	27167645	4934	2	G	T	T	T	507	39	DPYSL5	1	1
LCLAT1	253558	broad.mit.edu	37	2	30682489	30682489	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:30682489G>T	uc002rnj.2	+	c.11G>T	c.(10-12)AGG>ATG	p.R4M	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.R4M|LCLAT1_uc002rnl.2_Intron|LCLAT1_uc010ymq.1_De_novo_Start_InFrame	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	4					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2														0.08125	0.967746	29.531663	13	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30682489	30682489	9001	2	G	T	T	T	455	35	LCLAT1	2	2
KCNK12	56660	broad.mit.edu	37	2	47748864	47748864	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47748864G>A	uc002rwb.2	-	c.475C>T	c.(475-477)CTG>TTG	p.L159L	MSH2_uc002rvz.2_Intron	NM_022055	NP_071338	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	159	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)											0.263158	13.469251	14.431622	5	14	KEEP	---	---	---	---	capture		Silent	SNP	47748864	47748864	8365	2	G	A	A	A	451	35	KCNK12	2	2
CLEC4F	165530	broad.mit.edu	37	2	71046533	71046533	+	Silent	SNP	T	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71046533T>G	uc002shf.2	-	c.222A>C	c.(220-222)GTA>GTC	p.V74V	CLEC4F_uc010yqv.1_Silent_p.V74V	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	74	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.235294	21.285005	23.462383	8	26	KEEP	---	---	---	---	capture		Silent	SNP	71046533	71046533	3654	2	T	G	G	G	782	61	CLEC4F	4	4
REG1B	5968	broad.mit.edu	37	2	79312396	79312396	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79312396C>A	uc002sny.2	-	c.447G>T	c.(445-447)TGG>TGT	p.W149C		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	149	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.125	3.807582	7.105571	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79312396	79312396	13680	2	C	A	A	A	390	30	REG1B	2	2
CTNNA2	1496	broad.mit.edu	37	2	80782895	80782895	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80782895G>T	uc010ysh.1	+	c.1618G>T	c.(1618-1620)GCA>TCA	p.A540S	CTNNA2_uc010yse.1_Missense_Mutation_p.A540S|CTNNA2_uc010ysf.1_Missense_Mutation_p.A540S|CTNNA2_uc010ysg.1_Missense_Mutation_p.A540S|CTNNA2_uc010ysi.1_Missense_Mutation_p.A172S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	540					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.077778	-0.020316	16.364698	7	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80782895	80782895	4172	2	G	T	T	T	598	46	CTNNA2	2	2
CCDC52	152185	broad.mit.edu	37	3	113172761	113172761	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113172761C>A	uc003eag.3	-	c.1694G>T	c.(1693-1695)CGA>CTA	p.R565L	CCDC52_uc003eaf.3_Non-coding_Transcript|CCDC52_uc003eah.1_Missense_Mutation_p.R461L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	565					cell division|mitosis	centriole|spindle	protein binding				0														0.067797	-1.452102	9.865868	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113172761	113172761	2945	3	C	A	A	A	403	31	CCDC52	1	1
POLQ	10721	broad.mit.edu	37	3	121206379	121206379	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121206379C>A	uc003eee.3	-	c.5399G>T	c.(5398-5400)AGT>ATT	p.S1800I	POLQ_uc003eed.2_Missense_Mutation_p.S972I	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1800					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.1	6.102409	22.065248	10	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121206379	121206379	12636	3	C	A	A	A	260	20	POLQ	2	2
CASR	846	broad.mit.edu	37	3	121980614	121980614	+	Silent	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121980614C>G	uc003eew.3	+	c.732C>G	c.(730-732)TCC>TCG	p.S244S	CASR_uc003eev.3_Silent_p.S244S	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	244	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.122302	22.00117	41.399535	17	122	KEEP	---	---	---	---	capture		Silent	SNP	121980614	121980614	2801	3	C	G	G	G	275	22	CASR	3	3
DIRC2	84925	broad.mit.edu	37	3	122545760	122545760	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122545760C>A	uc003efw.3	+	c.551C>A	c.(550-552)GCT>GAT	p.A184D	DIRC2_uc010hrl.2_Non-coding_Transcript|DIRC2_uc010hrm.2_Missense_Mutation_p.A22D	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	184					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)										0.085106	1.335157	17.746625	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122545760	122545760	4713	3	C	A	A	A	364	28	DIRC2	2	2
MCM2	4171	broad.mit.edu	37	3	127323593	127323593	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127323593G>T	uc003ejp.2	+	c.379G>T	c.(379-381)GGC>TGC	p.G127C	MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_Non-coding_Transcript|MCM2_uc011bkn.1_Missense_Mutation_p.G11C	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	127	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.25	9.791951	10.70133	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127323593	127323593	9775	3	G	T	T	T	559	43	MCM2	2	2
COL6A6	131873	broad.mit.edu	37	3	130284251	130284251	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130284251G>T	uc010htl.2	+	c.1075G>T	c.(1075-1077)GGT>TGT	p.G359C		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	359	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.11811	14.920802	33.182316	15	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130284251	130284251	3841	3	G	T	T	T	559	43	COL6A6	2	2
FBLN2	2199	broad.mit.edu	37	3	13669357	13669357	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13669357G>T	uc011ava.1	+	c.2457G>T	c.(2455-2457)ACG>ACT	p.T819T	FBLN2_uc011auz.1_Silent_p.T798T|FBLN2_uc011avb.1_Silent_p.T772T|FBLN2_uc011avc.1_Silent_p.T819T	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	818	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)											0.111111	3.408744	7.442676	3	24	KEEP	---	---	---	---	capture		Silent	SNP	13669357	13669357	5935	3	G	T	T	T	483	38	FBLN2	1	1
ZIC4	84107	broad.mit.edu	37	3	147108804	147108804	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147108804G>T	uc011bno.1	-	c.1068C>A	c.(1066-1068)CTC>CTA	p.L356L	ZIC4_uc003ewc.1_Silent_p.L236L|ZIC4_uc003ewd.1_Silent_p.L306L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	306						nucleus	DNA binding|zinc ion binding				0														0.204545	19.047716	22.619764	9	35	KEEP	---	---	---	---	capture		Silent	SNP	147108804	147108804	18272	3	G	T	T	T	470	37	ZIC4	1	1
WDR49	151790	broad.mit.edu	37	3	167250700	167250700	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167250700G>T	uc003fev.1	-	c.964C>A	c.(964-966)CCT>ACT	p.P322T	WDR49_uc003feu.1_Missense_Mutation_p.P147T|WDR49_uc011bpd.1_Missense_Mutation_p.P386T|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	322										large_intestine(1)|ovary(1)	2														0.177778	17.071546	21.471884	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167250700	167250700	17875	3	G	T	T	T	559	43	WDR49	2	2
KLHL6	89857	broad.mit.edu	37	3	183226293	183226293	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183226293G>T	uc003flr.2	-	c.463C>A	c.(463-465)CTG>ATG	p.L155M	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.L153M	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	155										ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)											0.147059	8.150638	12.221943	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183226293	183226293	8707	3	G	T	T	T	451	35	KLHL6	2	2
MASP1	5648	broad.mit.edu	37	3	186978605	186978605	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186978605G>T	uc003fri.2	-	c.471C>A	c.(469-471)TGC>TGA	p.C157*	MASP1_uc003frh.1_Nonsense_Mutation_p.C157*|MASP1_uc003frj.2_Nonsense_Mutation_p.C126*|MASP1_uc003frk.1_Nonsense_Mutation_p.C157*|MASP1_uc011bse.1_Nonsense_Mutation_p.C131*	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	157	Interaction with FCN2.|Interaction with MBL2.|EGF-like; calcium-binding.|Homodimerization (By similarity).				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)										0.086957	1.065789	9.00933	4	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186978605	186978605	9706	3	G	T	T	T	542	42	MASP1	5	2
KCNH8	131096	broad.mit.edu	37	3	19498290	19498290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19498290C>A	uc003cbk.1	+	c.1856C>A	c.(1855-1857)TCA>TAA	p.S619*	KCNH8_uc010hex.1_Nonsense_Mutation_p.S80*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	619	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.103448	2.8805	12.063351	6	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19498290	19498290	8343	3	C	A	A	A	377	29	KCNH8	5	2
ZDHHC19	131540	broad.mit.edu	37	3	195935336	195935336	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195935336C>A	uc003fwc.2	-	c.504G>T	c.(502-504)TCG>TCT	p.S168S	ZDHHC19_uc010hzz.2_Non-coding_Transcript|ZDHHC19_uc010iaa.2_Non-coding_Transcript|ZDHHC19_uc010iab.2_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	168	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)										0.1	2.570195	8.965007	4	36	KEEP	---	---	---	---	capture		Silent	SNP	195935336	195935336	18197	3	C	A	A	A	288	23	ZDHHC19	1	1
LRRC3B	116135	broad.mit.edu	37	3	26751822	26751822	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:26751822A>G	uc003cdp.2	+	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	LRRC3B_uc003cdq.2_Missense_Mutation_p.Y220C	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	220	Helical; (Potential).					integral to membrane				pancreas(2)|ovary(1)	3														0.157895	7.124209	11.373466	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26751822	26751822	9371	3	A	G	G	G	208	16	LRRC3B	4	4
STAC	6769	broad.mit.edu	37	3	36527655	36527655	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36527655G>T	uc003cgh.1	+	c.601G>T	c.(601-603)GAG>TAG	p.E201*	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Nonsense_Mutation_p.E140*	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	201					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			ovary(1)|pancreas(1)	2														0.090226	4.225083	26.903979	12	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36527655	36527655	15757	3	G	T	T	T	481	37	STAC	5	1
SCN5A	6331	broad.mit.edu	37	3	38651363	38651363	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38651363G>A	uc003cio.2	-	c.796C>T	c.(796-798)CTC>TTC	p.L266F	SCN5A_uc003cin.2_Missense_Mutation_p.L266F|SCN5A_uc003cil.3_Missense_Mutation_p.L266F|SCN5A_uc010hhi.2_Missense_Mutation_p.L266F|SCN5A_uc010hhk.2_Missense_Mutation_p.L266F|SCN5A_uc011ayr.1_Missense_Mutation_p.L266F|SCN5A_uc010hhl.1_Missense_Mutation_p.L89F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	266	Helical; Name=S5 of repeat I; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.216667	32.843814	37.285445	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38651363	38651363	14404	3	G	A	A	A	455	35	SCN5A	2	2
ANO10	55129	broad.mit.edu	37	3	43474216	43474216	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:43474216C>A	uc003cmv.2	-	c.1801G>T	c.(1801-1803)GCA>TCA	p.A601S	ANO10_uc011azs.1_Intron|ANO10_uc003cmw.2_Missense_Mutation_p.A535S|ANO10_uc010hil.2_Missense_Mutation_p.A411S|ANO10_uc011azt.1_Missense_Mutation_p.A490S	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	601	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)	2														0.206897	14.338	16.643921	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43474216	43474216	704	3	C	A	A	A	351	27	ANO10	1	1
ITPR1	3708	broad.mit.edu	37	3	4711438	4711438	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4711438G>T	uc003bqa.2	+	c.1987G>T	c.(1987-1989)GAC>TAC	p.D663Y	ITPR1_uc010hca.1_Missense_Mutation_p.D648Y|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D648Y	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	663	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)						2114				0.166667	4.511744	6.41166	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4711438	4711438	8224	3	G	T	T	T	585	45	ITPR1	2	2
STAB1	23166	broad.mit.edu	37	3	52553399	52553399	+	Silent	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52553399T>C	uc003dej.2	+	c.5154T>C	c.(5152-5154)CCT>CCC	p.P1718P	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1718	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.131579	11.609809	21.63266	10	66	KEEP	---	---	---	---	capture		Silent	SNP	52553399	52553399	15755	3	T	C	C	C	704	55	STAB1	4	4
CADPS	8618	broad.mit.edu	37	3	62388860	62388860	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62388860G>T	uc003dll.2	-	c.3778C>A	c.(3778-3780)CAA>AAA	p.Q1260K	CADPS_uc003dlj.1_Missense_Mutation_p.Q215K|CADPS_uc003dlk.1_Missense_Mutation_p.Q708K|CADPS_uc003dlm.2_Missense_Mutation_p.Q1221K|CADPS_uc003dln.2_Missense_Mutation_p.Q1181K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1260	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.1	2.545502	7.302228	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62388860	62388860	2686	3	G	T	T	T	598	46	CADPS	2	2
TMF1	7110	broad.mit.edu	37	3	69079029	69079029	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69079029C>A	uc011bfx.1	-	c.2540G>T	c.(2539-2541)AGA>ATA	p.R847I	TMF1_uc003dnn.2_Missense_Mutation_p.R844I	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	844	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)										0.128571	18.094706	37.163103	18	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69079029	69079029	16768	3	C	A	A	A	416	32	TMF1	2	2
MITF	4286	broad.mit.edu	37	3	70014210	70014210	+	Silent	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:70014210G>C	uc003dnz.2	+	c.1374G>C	c.(1372-1374)GGG>GGC	p.G458G	MITF_uc011bgb.1_Silent_p.G406G|MITF_uc003doa.2_Silent_p.G457G|MITF_uc003dob.2_Silent_p.G442G|MITF_uc003dod.2_Silent_p.G433G|MITF_uc003doe.2_Silent_p.G351G|MITF_uc003dof.2_Silent_p.G357G	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	464					melanocyte differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		Melanoma(29;269 969 31479 41502 42961)				237				0.2	15.501472	18.437931	7	28	KEEP	---	---	---	---	capture		Silent	SNP	70014210	70014210	9986	3	G	C	C	C	522	41	MITF	3	3
ROBO2	6092	broad.mit.edu	37	3	77147386	77147386	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77147386A>T	uc003dpz.2	+	c.283A>T	c.(283-285)ATC>TTC	p.I95F	ROBO2_uc003dpy.3_Missense_Mutation_p.I95F|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.I95F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	95	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.162791	13.901219	18.546125	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77147386	77147386	13993	3	A	T	T	T	104	8	ROBO2	3	3
ROBO2	6092	broad.mit.edu	37	3	77607136	77607136	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77607136G>T	uc003dpz.2	+	c.1285G>T	c.(1285-1287)GCC>TCC	p.A429S	ROBO2_uc003dpy.3_Missense_Mutation_p.A425S|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.A429S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	425	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.145161	12.709918	20.275852	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77607136	77607136	13993	3	G	T	T	T	442	34	ROBO2	2	2
EPHA3	2042	broad.mit.edu	37	3	89462341	89462341	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89462341C>T	uc003dqy.2	+	c.1813C>T	c.(1813-1815)CCT>TCT	p.P605S	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	605	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.05102	-9.507238	11.413288	5	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89462341	89462341	5361	3	C	T	T	T	286	22	EPHA3	2	2
ADH7	131	broad.mit.edu	37	4	100341786	100341786	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100341786G>T	uc003huv.1	-	c.765C>A	c.(763-765)CCC>CCA	p.P255P		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	255					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)	2				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)									0.095238	6.474779	20.251435	8	76	KEEP	---	---	---	---	capture		Silent	SNP	100341786	100341786	314	4	G	T	T	T	600	47	ADH7	2	2
ZNF518B	85460	broad.mit.edu	37	4	10447452	10447452	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10447452G>A	uc003gmn.2	-	c.501C>T	c.(499-501)TGC>TGT	p.C167C		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	167	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3														0.134615	18.284995	31.748079	14	90	KEEP	---	---	---	---	capture		Silent	SNP	10447452	10447452	18557	4	G	A	A	A	594	46	ZNF518B	2	2
IL21	59067	broad.mit.edu	37	4	123542067	123542067	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123542067G>T	uc003ies.2	-	c.100C>A	c.(100-102)CGC>AGC	p.R34S	IL21_uc010int.2_Missense_Mutation_p.R27S	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation|immune response|positive regulation of inflammatory response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|positive regulation of tissue remodeling|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0														0.078652	1.072654	17.197868	7	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123542067	123542067	7971	4	G	T	T	T	481	37	IL21	1	1
MAML3	55534	broad.mit.edu	37	4	140640518	140640518	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:140640518C>A	uc003ihz.1	-	c.3361G>T	c.(3361-3363)GAG>TAG	p.E1121*	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Nonsense_Mutation_p.E589*	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	1122					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)									182				0.263158	11.658706	12.629849	5	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140640518	140640518	9590	4	C	A	A	A	403	31	MAML3	5	1
NPY1R	4886	broad.mit.edu	37	4	164246588	164246588	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164246588C>G	uc003iqm.1	-	c.1022G>C	c.(1021-1023)CGG>CCG	p.R341P	NPY1R_uc011cjj.1_Missense_Mutation_p.R98P	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	341	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			pancreas(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.049587	-12.634525	13.402358	6	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164246588	164246588	11013	4	C	G	G	G	299	23	NPY1R	3	3
NPY1R	4886	broad.mit.edu	37	4	164247685	164247685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164247685G>A	uc003iqm.1	-	c.22C>T	c.(22-24)CAG>TAG	p.Q8*	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	8	Extracellular (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			pancreas(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.121951	7.547196	13.284865	5	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	164247685	164247685	11013	4	G	A	A	A	611	47	NPY1R	5	2
DDX60	55601	broad.mit.edu	37	4	169158468	169158468	+	Silent	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169158468G>C	uc003irp.2	-	c.4380C>G	c.(4378-4380)CTC>CTG	p.L1460L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1460							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)										0.25	10.99188	11.90108	4	12	KEEP	---	---	---	---	capture		Silent	SNP	169158468	169158468	4549	4	G	C	C	C	418	33	DDX60	3	3
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169374381C>A	uc003irq.3	-	c.890G>T	c.(889-891)CGT>CTT	p.R297L	DDX60L_uc003irr.1_Missense_Mutation_p.R297L|DDX60L_uc003irs.1_Missense_Mutation_p.R24L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.105263	4.1768	10.05779	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169374381	169374381	4550	4	C	A	A	A	247	19	DDX60L	1	1
CCKAR	886	broad.mit.edu	37	4	26483502	26483502	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:26483502C>A	uc003gse.1	-	c.1045G>T	c.(1045-1047)GGA>TGA	p.G349*		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.2	34.68356	41.358827	16	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26483502	26483502	3005	4	C	A	A	A	312	24	CCKAR	5	2
DCAF4L1	285429	broad.mit.edu	37	4	41984232	41984232	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:41984232C>A	uc003gwk.2	+	c.423C>A	c.(421-423)CAC>CAA	p.H141Q		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	141											0														0.106383	12.39419	26.841189	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41984232	41984232	4442	4	C	A	A	A	246	19	DCAF4L1	1	1
LYAR	55646	broad.mit.edu	37	4	4285410	4285410	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4285410C>T	uc011bvy.1	-	c.60G>A	c.(58-60)AAG>AAA	p.K20K	LYAR_uc003ght.2_Silent_p.K20K	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	20	C2HC-type 1.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.25	23.89163	26.203043	10	30	KEEP	---	---	---	---	capture		Silent	SNP	4285410	4285410	9480	4	C	T	T	T	363	28	LYAR	2	2
ENAM	10117	broad.mit.edu	37	4	71508725	71508725	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71508725C>A	uc011caw.1	+	c.1582C>A	c.(1582-1584)CCA>ACA	p.P528T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.123711	15.826464	29.266591	12	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71508725	71508725	5305	4	C	A	A	A	338	26	ENAM	2	2
DMP1	1758	broad.mit.edu	37	4	88584415	88584415	+	Silent	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88584415C>G	uc003hqv.2	+	c.1485C>G	c.(1483-1485)GCC>GCG	p.A495A	DMP1_uc003hqw.2_Silent_p.A479A	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	495					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)										0.069307	-5.651636	13.704223	7	94	KEEP	---	---	---	---	capture		Silent	SNP	88584415	88584415	4763	4	C	G	G	G	301	24	DMP1	3	3
GRID2	2895	broad.mit.edu	37	4	94006168	94006168	+	Silent	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94006168C>G	uc011cdt.1	+	c.267C>G	c.(265-267)GGC>GGG	p.G89G	GRID2_uc010ikx.2_Silent_p.G89G|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	89	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.137255	13.007965	19.485773	7	44	KEEP	---	---	---	---	capture		Silent	SNP	94006168	94006168	7050	4	C	G	G	G	314	25	GRID2	3	3
GRID2	2895	broad.mit.edu	37	4	94031995	94031995	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94031995C>A	uc011cdt.1	+	c.626C>A	c.(625-627)ACC>AAC	p.T209N	GRID2_uc010ikx.2_Missense_Mutation_p.T209N|GRID2_uc011cdu.1_Missense_Mutation_p.T114N|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	209	Extracellular (Potential).		T -> N (in a colorectal cancer sample; somatic mutation).		glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T209N(1)		ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.108434	9.813041	22.427789	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94031995	94031995	7050	4	C	A	A	A	234	18	GRID2	2	2
SPOCK1	6695	broad.mit.edu	37	5	136314510	136314510	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:136314510C>A	uc003lbo.2	-	c.1153G>T	c.(1153-1155)GAT>TAT	p.D385Y	SPOCK1_uc003lbp.2_Missense_Mutation_p.D385Y	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	385					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.130435	3.67038	9.77566	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136314510	136314510	15592	5	C	A	A	A	390	30	SPOCK1	2	2
PCDHA4	56144	broad.mit.edu	37	5	140188799	140188799	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140188799C>A	uc003lhi.2	+	c.2027C>A	c.(2026-2028)CCA>CAA	p.P676Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.P676Q|PCDHA4_uc011daa.1_Missense_Mutation_p.P676Q	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	676	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.081967	1.026998	11.786228	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140188799	140188799	11946	5	C	A	A	A	273	21	PCDHA4	2	2
PCDHA7	56141	broad.mit.edu	37	5	140215087	140215087	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215087C>A	uc003lhq.2	+	c.1119C>A	c.(1117-1119)AGC>AGA	p.S373R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.S373R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	373	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.134021	15.581928	28.405362	13	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140215087	140215087	11949	5	C	A	A	A	350	27	PCDHA7	1	1
PCDHA13	56136	broad.mit.edu	37	5	140263288	140263288	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263288G>A	uc003lif.2	+	c.1435G>A	c.(1435-1437)GCT>ACT	p.A479T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A479T|PCDHA13_uc003lid.2_Missense_Mutation_p.A479T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	479	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.144737	12.575172	21.820793	11	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140263288	140263288	11943	5	G	A	A	A	598	46	PCDHA13	2	2
PCDHB10	56126	broad.mit.edu	37	5	140573085	140573085	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140573085G>T	uc003lix.2	+	c.960G>T	c.(958-960)CAG>CAT	p.Q320H		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	320	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.130435	13.130138	22.294879	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140573085	140573085	11955	5	G	T	T	T	451	35	PCDHB10	2	2
PCDHB12	56124	broad.mit.edu	37	5	140589702	140589702	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589702C>A	uc003liz.2	+	c.1223C>A	c.(1222-1224)CCG>CAG	p.P408Q	PCDHB12_uc011dak.1_Missense_Mutation_p.P71Q	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	408	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.162162	10.731848	14.745518	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140589702	140589702	11957	5	C	A	A	A	299	23	PCDHB12	1	1
PCDHGA2	56113	broad.mit.edu	37	5	140719979	140719979	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719979A>C	uc003ljk.1	+	c.1441A>C	c.(1441-1443)AGC>CGC	p.S481R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S481R	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	481	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.111111	6.009931	15.405162	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140719979	140719979	11974	5	A	C	C	C	91	7	PCDHGA2	4	4
FLT4	2324	broad.mit.edu	37	5	180048747	180048747	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180048747C>A	uc003mlz.3	-	c.1815G>T	c.(1813-1815)CCG>CCT	p.P605P	FLT4_uc003mma.3_Silent_p.P605P|FLT4_uc003mmb.1_Silent_p.P138P|FLT4_uc011dgy.1_Silent_p.P605P	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	605	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.083333	1.064127	9.531669	4	44	KEEP	---	---	---	---	capture		Silent	SNP	180048747	180048747	6186	5	C	A	A	A	340	27	FLT4	1	1
CDH10	1008	broad.mit.edu	37	5	24535845	24535845	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24535845C>A	uc003jgr.1	-	c.613G>T	c.(613-615)GGG>TGG	p.G205W	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	205	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.131148	11.268315	19.32875	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24535845	24535845	3225	5	C	A	A	A	312	24	CDH10	2	2
FYB	2533	broad.mit.edu	37	5	39153583	39153583	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39153583G>A	uc011cpl.1	-	c.1289C>T	c.(1288-1290)CCT>CTT	p.P430L	FYB_uc003jls.2_Missense_Mutation_p.P420L|FYB_uc003jlt.2_Missense_Mutation_p.P420L|FYB_uc003jlu.2_Missense_Mutation_p.P420L	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	420	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.048387	-20.475154	19.854313	9	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39153583	39153583	6375	5	G	A	A	A	455	35	FYB	2	2
UTP15	84135	broad.mit.edu	37	5	72875739	72875739	+	Silent	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72875739T>A	uc003kcw.1	+	c.1377T>A	c.(1375-1377)GTT>GTA	p.V459V	UTP15_uc011cso.1_Silent_p.V440V|UTP15_uc011csp.1_Silent_p.V269V|UTP15_uc010ize.1_Silent_p.V459V	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	459					rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)										0.18	19.144697	23.959876	9	41	KEEP	---	---	---	---	capture		Silent	SNP	72875739	72875739	17662	5	T	A	A	A	808	63	UTP15	3	3
PREP	5550	broad.mit.edu	37	6	105726117	105726117	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105726117C>A	uc003prc.2	-	c.2035G>T	c.(2035-2037)GGC>TGC	p.G679C		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	679					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)									0.174603	18.989241	25.283323	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105726117	105726117	12917	6	C	A	A	A	286	22	PREP	2	2
AIM1	202	broad.mit.edu	37	6	106968952	106968952	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106968952G>T	uc003prh.2	+	c.2645G>T	c.(2644-2646)GGT>GTT	p.G882V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	882							sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)						659				0.074627	-1.773333	10.66856	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106968952	106968952	433	6	G	T	T	T	572	44	AIM1	2	2
FIG4	9896	broad.mit.edu	37	6	110059538	110059538	+	Silent	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110059538G>T	uc003ptt.2	+	c.657G>T	c.(655-657)GGG>GGT	p.G219G	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	219	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)										0.121495	12.333681	27.355708	13	94	KEEP	---	---	---	---	capture		Silent	SNP	110059538	110059538	6126	6	G	T	T	T	522	41	FIG4	2	2
RFX6	222546	broad.mit.edu	37	6	117248319	117248319	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117248319T>A	uc003pxm.2	+	c.2015T>A	c.(2014-2016)CTG>CAG	p.L672Q		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	672					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.15	27.563082	39.303927	15	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117248319	117248319	13739	6	T	A	A	A	715	55	RFX6	3	3
ENPP3	5169	broad.mit.edu	37	6	132067981	132067981	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132067981G>T	uc003qcu.3	+	c.2513G>T	c.(2512-2514)CGG>CTG	p.R838L	ENPP3_uc010kfq.2_Non-coding_Transcript|ENPP3_uc003qcv.2_Missense_Mutation_p.R838L	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	838	Extracellular (Potential).|Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)										0.084507	1.451034	13.842465	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132067981	132067981	5324	6	G	T	T	T	507	39	ENPP3	1	1
SYNJ2	8871	broad.mit.edu	37	6	158492670	158492670	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158492670G>A	uc003qqx.1	+	c.1977G>A	c.(1975-1977)GGG>GGA	p.G659G	SYNJ2_uc003qqw.1_Silent_p.G659G|SYNJ2_uc003qqy.1_Silent_p.G372G|SYNJ2_uc003qqz.1_Silent_p.G276G|SYNJ2_uc003qra.1_Silent_p.G2G	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	659	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)										0.090909	1.67658	9.091366	4	40	KEEP	---	---	---	---	capture		Silent	SNP	158492670	158492670	15974	6	G	A	A	A	548	43	SYNJ2	2	2
C6orf120	387263	broad.mit.edu	37	6	170102858	170102858	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170102858G>A	uc011egx.1	+	c.360G>A	c.(358-360)CCG>CCA	p.P120P	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc003qxb.2_Silent_p.P101P	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263 precursor	101						extracellular region					0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)										0.205128	14.245138	17.44204	8	31	KEEP	---	---	---	---	capture		Silent	SNP	170102858	170102858	2426	6	G	A	A	A	496	39	C6orf120	1	1
RNF144B	255488	broad.mit.edu	37	6	18457534	18457534	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:18457534G>T	uc003ncs.2	+	c.480G>T	c.(478-480)TGG>TGT	p.W160C		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	160	IBR-type.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)											0.071146	-9.478455	38.428623	18	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18457534	18457534	13923	6	G	T	T	T	546	42	RNF144B	2	2
OR2H1	26716	broad.mit.edu	37	6	29429977	29429977	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29429977C>A	uc003nmi.2	+	c.431C>A	c.(430-432)TCT>TAT	p.S144Y	OR2H1_uc003nmj.1_Missense_Mutation_p.S144Y|OR2H1_uc010jri.1_Missense_Mutation_p.S66Y	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.062112	-14.467519	17.72766	10	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29429977	29429977	11407	6	C	A	A	A	416	32	OR2H1	2	2
OR2H2	7932	broad.mit.edu	37	6	29555748	29555748	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29555748C>A	uc003nmr.1	+	c.27C>A	c.(25-27)GGC>GGA	p.G9G	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	9	Extracellular (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.165138	34.390646	45.988047	18	91	KEEP	---	---	---	---	capture		Silent	SNP	29555748	29555748	11408	6	C	A	A	A	353	28	OR2H2	2	2
OR2H2	7932	broad.mit.edu	37	6	29556131	29556131	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29556131G>T	uc003nmr.1	+	c.410G>T	c.(409-411)CGC>CTC	p.R137L	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	137	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.132653	15.178974	28.116803	13	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29556131	29556131	11408	6	G	T	T	T	494	38	OR2H2	1	1
ZBTB9	221504	broad.mit.edu	37	6	33423557	33423557	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33423557G>T	uc003oeq.2	+	c.680G>T	c.(679-681)GGG>GTG	p.G227V		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.192308	19.212376	23.823608	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33423557	33423557	18146	6	G	T	T	T	559	43	ZBTB9	2	2
TTBK1	84630	broad.mit.edu	37	6	43251506	43251506	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43251506G>T	uc003ouq.1	+	c.3028G>T	c.(3028-3030)GCC>TCC	p.A1010S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1010					protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.127273	8.301703	15.742407	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43251506	43251506	17230	6	G	T	T	T	546	42	TTBK1	2	2
PGK2	5232	broad.mit.edu	37	6	49754648	49754648	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754648G>T	uc003ozu.2	-	c.253C>A	c.(253-255)CTC>ATC	p.L85I		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.082353	-0.283707	14.755593	7	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49754648	49754648	12214	6	G	T	T	T	442	34	PGK2	2	2
PKHD1	5314	broad.mit.edu	37	6	51889434	51889434	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51889434C>A	uc003pah.1	-	c.5174G>T	c.(5173-5175)TGG>TTG	p.W1725L	PKHD1_uc003pai.2_Missense_Mutation_p.W1725L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1725	IPT/TIG 12; atypical.|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)								p.W1725S(TYKNU-Tumor)	1537				0.152542	15.039703	21.854594	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51889434	51889434	12396	6	C	A	A	A	273	21	PKHD1	2	2
DST	667	broad.mit.edu	37	6	56417869	56417869	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56417869C>A	uc003pdf.2	-	c.9364G>T	c.(9364-9366)GAA>TAA	p.E3122*	DST_uc003pcz.3_Nonsense_Mutation_p.E2944*|DST_uc011dxj.1_Nonsense_Mutation_p.E2973*|DST_uc011dxk.1_Nonsense_Mutation_p.E2984*|DST_uc003pcy.3_Nonsense_Mutation_p.E2618*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5030				E -> G (in Ref. 3; AAL62061).	cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.131148	16.682282	32.906558	16	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56417869	56417869	4967	6	C	A	A	A	416	32	DST	5	2
BAI3	577	broad.mit.edu	37	6	70092727	70092727	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70092727T>G	uc003pev.3	+	c.4280T>G	c.(4279-4281)GTC>GGC	p.V1427G	BAI3_uc010kak.2_Missense_Mutation_p.V1427G|BAI3_uc011dxx.1_Missense_Mutation_p.V633G	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1427	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.157895	5.457575	7.541944	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70092727	70092727	1321	6	T	G	G	G	754	58	BAI3	4	4
IMPG1	3617	broad.mit.edu	37	6	76744341	76744341	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76744341C>T	uc003pik.1	-	c.465G>A	c.(463-465)CAG>CAA	p.Q155Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	155					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.103896	6.238907	18.273098	8	69	KEEP	---	---	---	---	capture		Silent	SNP	76744341	76744341	8029	6	C	T	T	T	363	28	IMPG1	2	2
HTR1B	3351	broad.mit.edu	37	6	78172323	78172323	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:78172323C>A	uc003pil.1	-	c.798G>T	c.(796-798)TCG>TCT	p.S266S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	266	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)									0.122449	16.590015	30.21762	12	86	KEEP	---	---	---	---	capture		Silent	SNP	78172323	78172323	7737	6	C	A	A	A	288	23	HTR1B	1	1
SPACA1	81833	broad.mit.edu	37	6	88773893	88773893	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88773893C>T	uc003pmn.2	+	c.687C>T	c.(685-687)ATC>ATT	p.I229I		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	229	Helical; (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)										0.132653	20.304916	33.150437	13	85	KEEP	---	---	---	---	capture		Silent	SNP	88773893	88773893	15473	6	C	T	T	T	408	32	SPACA1	2	2
LAMB4	22798	broad.mit.edu	37	7	107708479	107708479	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107708479C>A	uc010ljo.1	-	c.2428G>T	c.(2428-2430)GGG>TGG	p.G810W	LAMB4_uc003vey.2_Missense_Mutation_p.G810W	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	810	Laminin EGF-like 6.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.055901	-15.200907	18.141286	9	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107708479	107708479	8936	7	C	A	A	A	286	22	LAMB4	2	2
PPP1R3A	5506	broad.mit.edu	37	7	113518674	113518674	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113518674T>C	uc010ljy.1	-	c.2473A>G	c.(2473-2475)ATG>GTG	p.M825V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	825					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.144231	27.676583	40.331345	15	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113518674	113518674	12806	7	T	C	C	C	637	49	PPP1R3A	4	4
THSD7A	221981	broad.mit.edu	37	7	11581224	11581224	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11581224C>A	uc003ssf.3	-	c.1644G>T	c.(1642-1644)GAG>GAT	p.E548D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	548	TSP type-1 5.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.166667	10.928686	14.720898	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11581224	11581224	16407	7	C	A	A	A	363	28	THSD7A	2	2
CTTNBP2	83992	broad.mit.edu	37	7	117424408	117424408	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117424408G>A	uc003vjf.2	-	c.2169C>T	c.(2167-2169)GTC>GTT	p.V723V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	723	ANK 1.									ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)										0.140625	27.667748	43.621407	18	110	KEEP	---	---	---	---	capture		Silent	SNP	117424408	117424408	4204	7	G	A	A	A	574	45	CTTNBP2	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121652109	121652109	+	Silent	SNP	T	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121652109T>C	uc003vjy.2	+	c.3009T>C	c.(3007-3009)AGT>AGC	p.S1003S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1003	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.11828	8.042758	21.445349	11	82	KEEP	---	---	---	---	capture		Silent	SNP	121652109	121652109	13272	7	T	C	C	C	764	59	PTPRZ1	4	4
PTPRZ1	5803	broad.mit.edu	37	7	121653456	121653456	+	Silent	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121653456G>A	uc003vjy.2	+	c.4356G>A	c.(4354-4356)CAG>CAA	p.Q1452Q	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1452	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.081633	1.659757	10.393179	4	45	KEEP	---	---	---	---	capture		Silent	SNP	121653456	121653456	13272	7	G	A	A	A	451	35	PTPRZ1	2	2
SLC13A1	6561	broad.mit.edu	37	7	122821070	122821070	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122821070G>T	uc003vkm.2	-	c.185C>A	c.(184-186)CCT>CAT	p.P62H	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	62						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.105263	2.874163	8.758799	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122821070	122821070	14886	7	G	T	T	T	455	35	SLC13A1	2	2
GRM8	2918	broad.mit.edu	37	7	126173676	126173676	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173676G>C	uc003vlr.2	-	c.1760C>G	c.(1759-1761)CCT>CGT	p.P587R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.P587R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	587	Helical; Name=1; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.111111	2.503968	6.542994	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173676	126173676	7082	7	G	C	C	C	455	35	GRM8	3	3
TRIM24	8805	broad.mit.edu	37	7	138200011	138200011	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138200011G>T	uc003vuc.2	+	c.538G>T	c.(538-540)GTT>TTT	p.V180F	TRIM24_uc003vub.2_Missense_Mutation_p.V180F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	180	B box-type 1.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|ovary(1)|breast(1)	4						Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)				258				0.173913	27.070296	33.98457	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138200011	138200011	17042	7	G	T	T	T	624	48	TRIM24	2	2
OR2A25	392138	broad.mit.edu	37	7	143771411	143771412	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143771411_143771412CT>AA	uc011ktx.1	+	c.99_100CT>AA	c.(97-102)TTCTAC>TTAAAC	p.33_34FY>LN		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	33_34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.181818	25.158704	31.437285	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	143771411	143771412	11384	7	CT	AA	AA	AA	415	32	OR2A25	2	2
OR2A12	346525	broad.mit.edu	37	7	143793022	143793022	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143793022C>A	uc011kty.1	+	c.822C>A	c.(820-822)TCC>TCA	p.S274S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)													0.190871	96.837057	118.344705	46	195	KEEP	---	---	---	---	capture		Silent	SNP	143793022	143793022	11381	7	C	A	A	A	275	22	OR2A12	2	2
ZNF777	27153	broad.mit.edu	37	7	149129475	149129475	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149129475C>A	uc003wfv.2	-	c.1888G>T	c.(1888-1890)GGC>TGC	p.G630C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	630	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)											0.083333	-0.248837	23.024202	11	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149129475	149129475	18748	7	C	A	A	A	299	23	ZNF777	1	1
MNX1	3110	broad.mit.edu	37	7	156802971	156802971	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156802971C>T	uc003wnd.1	-	c.74G>A	c.(73-75)AGC>AAC	p.S25N	MNX1_uc003wmz.2_5'Flank|MNX1_uc003wna.2_Missense_Mutation_p.S25N|MNX1_uc010lqq.1_5'Flank|MNX1_uc003wnc.1_5'Flank|MNX1_uc010lqr.1_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	25				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)						35				0.375	8.043195	8.144954	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156802971	156802971	10070	7	C	T	T	T	364	28	MNX1	2	2
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184711G>T	uc003suo.1	-	c.275C>A	c.(274-276)CCC>CAC	p.P92H		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.135135	6.849801	11.624772	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184711	19184711	6053	7	G	T	T	T	559	43	FERD3L	2	2
DNAH11	8701	broad.mit.edu	37	7	21813492	21813492	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21813492C>A	uc003svc.2	+	c.9232C>A	c.(9232-9234)CCA>ACA	p.P3078T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3078					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														0.235294	9.992656	11.08115	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21813492	21813492	4781	7	C	A	A	A	286	22	DNAH11	2	2
NUPL2	11097	broad.mit.edu	37	7	23239964	23239964	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23239964G>T	uc003svu.2	+	c.872G>T	c.(871-873)GGG>GTG	p.G291V	NUPL2_uc003svv.2_Non-coding_Transcript|NUPL2_uc003svw.2_Missense_Mutation_p.G168V|NUPL2_uc011jyw.1_Non-coding_Transcript|NUPL2_uc003svx.2_Missense_Mutation_p.G168V|NUPL2_uc011jyx.1_Missense_Mutation_p.G63V	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	291	Ser-rich.|FG 8.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2														0.352941	17.2448	17.569056	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23239964	23239964	11180	7	G	T	T	T	559	43	NUPL2	2	2
EVX1	2128	broad.mit.edu	37	7	27283045	27283045	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27283045C>A	uc003szd.1	+	c.396C>A	c.(394-396)GCC>GCA	p.A132A	EVX1_uc011jzn.1_Intron|EVX1_uc010kuy.1_Intron	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	132						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.259259	16.109635	17.529794	7	20	KEEP	---	---	---	---	capture		Silent	SNP	27283045	27283045	5487	7	C	A	A	A	262	21	EVX1	2	2
CHN2	1124	broad.mit.edu	37	7	29535591	29535591	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29535591C>A	uc011jzs.1	+	c.903C>A	c.(901-903)CAC>CAA	p.H301Q	CHN2_uc003szz.2_Missense_Mutation_p.H226Q|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.H191Q|CHN2_uc011jzt.1_Missense_Mutation_p.H239Q|CHN2_uc010kvd.2_Missense_Mutation_p.H82Q|CHN2_uc011jzu.1_Missense_Mutation_p.H211Q|CHN2_uc010kvg.2_Missense_Mutation_p.H90Q|CHN2_uc010kvh.2_Missense_Mutation_p.H90Q|CHN2_uc010kvi.2_Missense_Mutation_p.H90Q|CHN2_uc010kve.2_Missense_Mutation_p.H90Q|CHN2_uc003taa.2_Missense_Mutation_p.H90Q|CHN2_uc010kvf.2_Missense_Mutation_p.H90Q|CHN2_uc010kvj.2_Missense_Mutation_p.H45Q|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_Intron|CHN2_uc010kvm.2_Missense_Mutation_p.H45Q|CHN2_uc011jzv.1_Missense_Mutation_p.H19Q	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	226	Phorbol-ester/DAG-type.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						Ovarian(1;44 48 13232 18918 31480)								0.297872	35.042691	36.753564	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29535591	29535591	3497	7	C	A	A	A	259	20	CHN2	2	2
ADCYAP1R1	117	broad.mit.edu	37	7	31127290	31127291	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31127290_31127291CC>AA	uc003tcc.1	+	c.934_935CC>AA	c.(934-936)CCT>AAT	p.P312N	ADCYAP1R1_uc003tca.1_Missense_Mutation_p.P312N|ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.P291N|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.P312N|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.P312N|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.P14N	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	312	Helical; Name=5; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						Ovarian(44;225 1186 2158 11092)								0.153846	15.030417	20.936054	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31127290	31127291	304	7	CC	AA	AA	AA	286	22	ADCYAP1R1	2	2
NPSR1	387129	broad.mit.edu	37	7	34889212	34889213	+	Nonsense_Mutation	DNP	GG	TT	TT	rs77260034		TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34889212_34889213GG>TT	uc003teh.1	+	c.1161_1162GG>TT	c.(1159-1164)CCGGGA>CCTTGA	p.G388*	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R354L|NPSR1_uc010kwt.1_Missense_Mutation_p.R201L|NPSR1_uc010kwu.1_Missense_Mutation_p.R144L|NPSR1_uc010kwv.1_Missense_Mutation_p.R288L|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.073684	0.452901	18.189438	7	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	34889212	34889213	11005	7	GG	TT	TT	TT	507	39	NPSR1	5	1
INHBA	3624	broad.mit.edu	37	7	41729415	41729415	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729415C>A	uc003thq.2	-	c.1114G>T	c.(1114-1116)GTC>TTC	p.V372F	INHBA_uc003thr.2_Missense_Mutation_p.V372F	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	372					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.193548	28.066876	33.498393	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729415	41729415	8042	7	C	A	A	A	260	20	INHBA	2	2
GLI3	2737	broad.mit.edu	37	7	42006218	42006218	+	Missense_Mutation	SNP	C	A	A	rs77498774	by1000genomes	TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42006218C>A	uc011kbh.1	-	c.2453G>T	c.(2452-2454)TGC>TTC	p.C818F	GLI3_uc011kbg.1_Missense_Mutation_p.C759F	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	818					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.152941	25.455885	35.221035	13	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42006218	42006218	6707	7	C	A	A	A	325	25	GLI3	2	2
KIAA0415	9907	broad.mit.edu	37	7	4825961	4825961	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4825961A>T	uc003sne.2	+	c.1213A>T	c.(1213-1215)ATG>TTG	p.M405L	KIAA0415_uc010ksp.2_Non-coding_Transcript|KIAA0415_uc003snf.2_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	405					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)										0.190476	45.24284	54.65359	20	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4825961	4825961	8482	7	A	T	T	T	104	8	KIAA0415	3	3
WBSCR17	64409	broad.mit.edu	37	7	70800554	70800554	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70800554G>T	uc003tvy.2	+	c.257G>T	c.(256-258)GGG>GTG	p.G86V	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	86	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.142857	12.393299	18.414429	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70800554	70800554	17836	7	G	T	T	T	559	43	WBSCR17	2	2
CACNA2D1	781	broad.mit.edu	37	7	81598255	81598256	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81598255_81598256CA>AT	uc003uhr.1	-	c.2342_2343TG>AT	c.(2341-2343)ATG>AAT	p.M781N	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	793	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.093458	6.379249	24.15023	10	97	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	81598255	81598256	2664	7	CA	AT	AT	AT	273	21	CACNA2D1	2	2
RP1L1	94137	broad.mit.edu	37	8	10470620	10470620	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10470620G>A	uc003wtc.2	-	c.988C>T	c.(988-990)CAC>TAC	p.H330Y		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	330					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.146341	21.078939	30.909618	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10470620	10470620	14012	8	G	A	A	A	611	47	RP1L1	2	2
ENPP2	5168	broad.mit.edu	37	8	120596284	120596284	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120596284G>A	uc003yos.1	-	c.1529C>T	c.(1528-1530)CCT>CTT	p.P510L	ENPP2_uc011lic.1_5'UTR|ENPP2_uc003yor.1_Missense_Mutation_p.P97L|ENPP2_uc003yot.1_Missense_Mutation_p.P458L|ENPP2_uc010mdd.1_Missense_Mutation_p.P458L	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	458					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			Melanoma(20;305 879 2501 4818 31020)								0.092784	7.725349	23.885343	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120596284	120596284	5323	8	G	A	A	A	455	35	ENPP2	2	2
OC90	729330	broad.mit.edu	37	8	133036951	133036951	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133036951G>T	uc003ytg.2	-	c.1211C>A	c.(1210-1212)GCC>GAC	p.A404D	OC90_uc011lix.1_Missense_Mutation_p.A404D	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	420	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)											0.173913	6.475982	8.804286	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133036951	133036951	11219	8	G	T	T	T	546	42	OC90	2	2
CYP11B1	1584	broad.mit.edu	37	8	143955805	143955805	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143955805A>T	uc010mey.2	-	c.1709T>A	c.(1708-1710)TTC>TAC	p.F570Y	CYP11B1_uc010mex.2_Missense_Mutation_p.F198Y|CYP11B1_uc003yxh.2_Missense_Mutation_p.F149Y|CYP11B1_uc003yxi.2_Missense_Mutation_p.F499Y|CYP11B1_uc003yxj.2_Missense_Mutation_p.F433Y	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	499					aldosterone biosynthetic process|cortisol biosynthetic process|glucose homeostasis|immune response|oxidation-reduction process|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									0.163265	10.505777	15.906941	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143955805	143955805	4310	8	A	T	T	T	117	9	CYP11B1	3	3
NAT1	9	broad.mit.edu	37	8	18079764	18079764	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:18079764C>T	uc003wyt.2	+	c.394C>T	c.(394-396)CAG>TAG	p.Q132*	NAT1_uc010ltd.2_Nonsense_Mutation_p.Q70*|NAT1_uc003wyu.2_Nonsense_Mutation_p.Q70*|NAT1_uc003wyv.2_Nonsense_Mutation_p.Q70*|NAT1_uc010ltc.2_Nonsense_Mutation_p.Q70*|NAT1_uc003wys.2_Nonsense_Mutation_p.Q132*|NAT1_uc003wyr.2_Nonsense_Mutation_p.Q70*|NAT1_uc003wyq.2_Nonsense_Mutation_p.Q70*|NAT1_uc011kyl.1_Nonsense_Mutation_p.Q70*	NM_001160175	NP_001153647	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform b	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)										0.078652	-1.522452	14.606244	7	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18079764	18079764	10569	8	C	T	T	T	273	21	NAT1	5	2
RP1	6101	broad.mit.edu	37	8	55542602	55542602	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55542602C>A	uc003xsd.1	+	c.6160C>A	c.(6160-6162)CTC>ATC	p.L2054I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2054					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.113208	5.911506	13.737491	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55542602	55542602	14011	8	C	A	A	A	312	24	RP1	2	2
OSR2	116039	broad.mit.edu	37	8	99961618	99961618	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99961618C>T	uc011lgx.1	+	c.801C>T	c.(799-801)CCC>CCT	p.P267P	OSR2_uc010mbn.2_Silent_p.P146P|OSR2_uc003yir.2_Silent_p.P146P|OSR2_uc003yiq.2_Silent_p.P146P	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	146					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.173554	42.001526	54.178719	21	100	KEEP	---	---	---	---	capture		Silent	SNP	99961618	99961618	11705	8	C	T	T	T	262	21	OSR2	2	2
MUSK	4593	broad.mit.edu	37	9	113562896	113562896	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113562896C>T	uc004bey.2	+	c.2238C>T	c.(2236-2238)CTC>CTT	p.L746L	MUSK_uc004bez.1_Silent_p.L326L	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	746	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.095238	13.330234	40.901531	16	152	KEEP	---	---	---	---	capture		Silent	SNP	113562896	113562896	10383	9	C	T	T	T	405	32	MUSK	2	2
PBX3	5090	broad.mit.edu	37	9	128697757	128697757	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128697757A>T	uc004bqb.2	+	c.714A>T	c.(712-714)AAA>AAT	p.K238N	PBX3_uc004bqc.2_Missense_Mutation_p.K57N|PBX3_uc004bqd.2_Missense_Mutation_p.K57N|PBX3_uc011lzw.1_Missense_Mutation_p.K163N|PBX3_uc011lzx.1_Missense_Mutation_p.K149N|PBX3_uc004bqe.2_Missense_Mutation_p.K125N	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	238	Homeobox; TALE-type.				anterior compartment pattern formation|posterior compartment specification|regulation of transcription, DNA-dependent		sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.12766	4.986244	11.422631	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128697757	128697757	11914	9	A	T	T	T	11	1	PBX3	3	3
FCN2	2220	broad.mit.edu	37	9	137778291	137778291	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137778291G>T	uc004cfg.1	+	c.575G>T	c.(574-576)CGT>CTT	p.R192L	FCN2_uc004cfh.1_Missense_Mutation_p.R154L	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	192	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)										0.114943	12.399716	25.101161	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137778291	137778291	6029	9	G	T	T	T	520	40	FCN2	1	1
SMARCA2	6595	broad.mit.edu	37	9	2104102	2104102	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2104102G>C	uc003zhc.2	+	c.3225G>C	c.(3223-3225)ATG>ATC	p.M1075I	SMARCA2_uc003zhd.2_Missense_Mutation_p.M1075I|SMARCA2_uc010mha.2_Missense_Mutation_p.M1008I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1075	Helicase C-terminal.				chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)										0.166667	32.166274	41.650489	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2104102	2104102	15267	9	G	C	C	C	585	45	SMARCA2	3	3
ACO1	48	broad.mit.edu	37	9	32407428	32407428	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32407428G>T	uc003zqw.3	+	c.266_splice	c.e3+1	p.T89_splice	ACO1_uc010mjh.1_Splice_Site_SNP|ACO1_uc003zqx.3_Splice_Site_SNP_p.T89_splice|ACO1_uc003zqy.3_Splice_Site_SNP	NM_002197	NP_002188			aconitase 1						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)										0.09434	2.310154	11.011559	5	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	32407428	32407428	147	9	G	T	T	T	520	40	ACO1	5	1
DOCK8	81704	broad.mit.edu	37	9	334314	334314	+	Silent	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:334314C>T	uc003zgf.2	+	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	DOCK8_uc011lls.1_Silent_p.P405P|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.P337P|DOCK8_uc003zgg.2_Silent_p.P337P|DOCK8_uc003zgh.2_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	405	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.068182	-3.00873	13.955078	6	82	KEEP	---	---	---	---	capture		Silent	SNP	334314	334314	4877	9	C	T	T	T	262	21	DOCK8	2	2
GALT	2592	broad.mit.edu	37	9	34647906	34647906	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34647906A>T	uc003zve.2	+	c.455A>T	c.(454-456)GAT>GTT	p.D152V	GALT_uc003zvf.2_Missense_Mutation_p.D43V|GALT_uc003zvg.2_Missense_Mutation_p.D24V|GALT_uc003zvh.2_Missense_Mutation_p.D104V|GALT_uc011lop.1_Missense_Mutation_p.D104V|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	152					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										0.09434	2.534957	11.298033	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34647906	34647906	6494	9	A	T	T	T	156	12	GALT	3	3
KDM4C	23081	broad.mit.edu	37	9	7046895	7046895	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:7046895C>T	uc003zkh.2	+	c.2293C>T	c.(2293-2295)CTT>TTT	p.L765F	KDM4C_uc010mhu.2_Missense_Mutation_p.L787F|KDM4C_uc011lmi.1_Missense_Mutation_p.L765F|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.2_Missense_Mutation_p.L765F|KDM4C_uc011lmk.1_Missense_Mutation_p.L510F|KDM4C_uc011lml.1_Missense_Mutation_p.L452F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	765					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.131148	12.766983	20.828188	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7046895	7046895	8436	9	C	T	T	T	416	32	KDM4C	2	2
RORB	6096	broad.mit.edu	37	9	77300511	77300511	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77300511G>T	uc004aji.2	+	c.1390G>T	c.(1390-1392)GAC>TAC	p.D464Y	RORB_uc004ajh.2_Missense_Mutation_p.D453Y	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	464	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)	3														0.064103	-4.57615	10.825275	5	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77300511	77300511	14008	9	G	T	T	T	585	45	RORB	2	2
FLJ46321	389763	broad.mit.edu	37	9	84606237	84606237	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84606237G>T	uc004amn.2	+	c.852G>T	c.(850-852)CAG>CAT	p.Q284H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	284						integral to membrane					0														0.074074	-12.642451	43.139936	22	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84606237	84606237	6174	9	G	T	T	T	451	35	FLJ46321	2	2
PTPRD	5789	broad.mit.edu	37	9	8521456	8521456	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8521456C>A	uc003zkk.2	-	c.782G>T	c.(781-783)GGG>GTG	p.G261V	PTPRD_uc003zkp.2_Missense_Mutation_p.G261V|PTPRD_uc003zkq.2_Missense_Mutation_p.G261V|PTPRD_uc003zkr.2_Missense_Mutation_p.G255V|PTPRD_uc003zks.2_Missense_Mutation_p.G251V|PTPRD_uc003zkl.2_Missense_Mutation_p.G261V|PTPRD_uc003zkm.2_Missense_Mutation_p.G248V|PTPRD_uc003zkn.2_Missense_Mutation_p.G261V|PTPRD_uc003zko.2_Missense_Mutation_p.G258V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	261	Extracellular (Potential).|Ig-like C2-type 3.				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)			0.214286	23.543203	27.806646	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8521456	8521456	13256	9	C	A	A	A	286	22	PTPRD	2	2
TRPC5	7224	broad.mit.edu	37	X	111195540	111195540	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111195540G>C	uc004epl.1	-	c.109C>G	c.(109-111)CTC>GTC	p.L37V	TRPC5_uc004epm.1_Missense_Mutation_p.L37V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	37	Cytoplasmic (Potential).|ANK 1.				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.123077	9.96824	18.995021	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111195540	111195540	17133	23	G	C	C	C	455	35	TRPC5	3	3
ODZ1	10178	broad.mit.edu	37	X	123805544	123805544	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123805544G>T	uc010nqy.2	-	c.1157C>A	c.(1156-1158)TCA>TAA	p.S386*	ODZ1_uc011muj.1_Nonsense_Mutation_p.S385*|ODZ1_uc004euj.2_Nonsense_Mutation_p.S386*	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	386	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.123077	10.962418	19.991655	8	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123805544	123805544	11239	23	G	T	T	T	585	45	ODZ1	5	2
DCAF12L2	340578	broad.mit.edu	37	X	125298594	125298594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298594C>T	uc004euk.1	-	c.1314G>A	c.(1312-1314)TGG>TGA	p.W438*		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	438										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.212963	50.266203	58.490328	23	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125298594	125298594	4436	23	C	T	T	T	338	26	DCAF12L2	5	2
GPR112	139378	broad.mit.edu	37	X	135455096	135455096	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135455096T>A	uc004ezu.1	+	c.7649T>A	c.(7648-7650)ATG>AAG	p.M2550K	GPR112_uc010nsb.1_Missense_Mutation_p.M2345K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2550	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.194872	89.031528	105.990516	38	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135455096	135455096	6903	23	T	A	A	A	663	51	GPR112	3	3
MAGEC2	51438	broad.mit.edu	37	X	141291699	141291699	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291699C>A	uc004fbu.1	-	c.75G>T	c.(73-75)TGG>TGT	p.W25C		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	25						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.126126	18.470851	33.617625	14	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291699	141291699	9562	23	C	A	A	A	286	22	MAGEC2	2	2
AFF2	2334	broad.mit.edu	37	X	148072760	148072760	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148072760C>G	uc004fcp.2	+	c.3834C>G	c.(3832-3834)GAC>GAG	p.D1278E	AFF2_uc004fcq.2_Missense_Mutation_p.D1268E|AFF2_uc004fcr.2_Missense_Mutation_p.D1239E|AFF2_uc011mxb.1_Missense_Mutation_p.D1243E|AFF2_uc004fcs.2_Missense_Mutation_p.D1243E|AFF2_uc011mxc.1_Missense_Mutation_p.D919E	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1278					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)													0.176471	31.382068	39.767854	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148072760	148072760	358	23	C	G	G	G	220	17	AFF2	3	3
CNGA2	1260	broad.mit.edu	37	X	150907049	150907049	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150907049C>A	uc004fey.1	+	c.94C>A	c.(94-96)CAC>AAC	p.H32N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	32	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.128571	11.59192	21.114095	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150907049	150907049	3735	23	C	A	A	A	273	21	CNGA2	2	2
GABRQ	55879	broad.mit.edu	37	X	151821409	151821409	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151821409C>T	uc004ffp.1	+	c.1564C>T	c.(1564-1566)CAT>TAT	p.H522Y		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	522						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.114754	7.675992	16.623317	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151821409	151821409	6426	23	C	T	T	T	273	21	GABRQ	2	2
CSAG1	158511	broad.mit.edu	37	X	151908824	151908824	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151908824G>C	uc004fge.2	+	c.63G>C	c.(61-63)CAG>CAC	p.Q21H	CSAG1_uc004fgf.2_Missense_Mutation_p.Q21H|CSAG1_uc004fgd.2_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1 precursor	21										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.174699	57.009992	73.563729	29	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151908824	151908824	4065	23	G	C	C	C	451	35	CSAG1	3	3
ACE2	59272	broad.mit.edu	37	X	15591573	15591573	+	Silent	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:15591573C>A	uc004cxa.1	-	c.1458G>T	c.(1456-1458)GGG>GGT	p.G486G	ACE2_uc004cxb.2_Silent_p.G486G	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	486	Extracellular (Potential).				angiotensin catabolic process in blood|angiotensin-mediated drinking behavior|oxygen and reactive oxygen species metabolic process|proteolysis|receptor biosynthetic process|regulation of cell proliferation|regulation of cytokine production|regulation of inflammatory response|regulation of vasoconstriction|regulation of vasodilation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)									0.092308	-2.834841	8.179037	6	59	KEEP	---	---	---	---	capture		Silent	SNP	15591573	15591573	138	23	C	A	A	A	275	22	ACE2	2	2
CACNA1F	778	broad.mit.edu	37	X	49070669	49070669	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49070669C>A	uc004dnb.2	-	c.3691G>T	c.(3691-3693)GGC>TGC	p.G1231C	CACNA1F_uc010nip.2_Missense_Mutation_p.G1220C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1231	IV.|Helical; Name=S2 of repeat IV; (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.147059	17.911129	26.043469	10	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49070669	49070669	2659	23	C	A	A	A	273	21	CACNA1F	2	2
ZNF711	7552	broad.mit.edu	37	X	84520224	84520224	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84520224G>T	uc004eeq.2	+	c.879G>T	c.(877-879)ATG>ATT	p.M293I	ZNF711_uc004eeo.2_Missense_Mutation_p.M293I|ZNF711_uc004eep.2_Missense_Mutation_p.M293I|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	293					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.076923	0.05745	9.586286	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84520224	84520224	18712	23	G	T	T	T	611	47	ZNF711	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177210	89177210	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177210A>T	uc004efe.2	+	c.126A>T	c.(124-126)AGA>AGT	p.R42S		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	42					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.09434	-0.768327	8.019924	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89177210	89177210	16355	23	A	T	T	T	141	11	TGIF2LX	3	3
PABPC5	140886	broad.mit.edu	37	X	90690776	90690776	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90690776G>T	uc004efg.2	+	c.200G>T	c.(199-201)CGC>CTC	p.R67L	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	67	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.138889	8.652327	13.187466	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90690776	90690776	11783	23	G	T	T	T	494	38	PABPC5	1	1
SRPX2	27286	broad.mit.edu	37	X	99924327	99924327	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99924327G>A	uc004egb.2	+	c.1178G>A	c.(1177-1179)CGG>CAG	p.R393Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	393					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.115385	4.106479	7.894267	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99924327	99924327	15679	23	G	A	A	A	507	39	SRPX2	1	1
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	-	-	rs76421097		TCGA-50-5045-01	TCGA-50-5045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74073448_74073457delGTCCTGGCCC	uc002jqm.1	+	c.1100_1109delGTCCTGGCCC	c.(1099-1110)TGTCCTGGCCCGfs	p.C367fs	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	367_370	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0														0.43			3	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	74073448	74073457	6492	17	GTCCTGGCCC	-	-	-	624	48	GALR2	5	5
