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
C10orf76	79591	broad.mit.edu	37	10	103761774	103761774	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103761774C>A	uc009xwy.1	-	c.1104G>T	c.(1102-1104)CTG>CTT	p.L368L		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	368						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)										0.193548	82.714001	101.744779	42	175	KEEP	---	---	---	---	capture		Silent	SNP	103761774	103761774	1653	10	C	A	A	A	366	29	C10orf76	2	2
SORCS3	22986	broad.mit.edu	37	10	106907472	106907472	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106907472G>T	uc001kyi.1	+	c.1400G>T	c.(1399-1401)CGT>CTT	p.R467L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	467	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.26	70.798484	76.019034	26	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106907472	106907472	15432	10	G	T	T	T	520	40	SORCS3	1	1
HABP2	3026	broad.mit.edu	37	10	115345649	115345649	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115345649T>A	uc001lai.3	+	c.1470T>A	c.(1468-1470)AGT>AGA	p.S490R		NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	490	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)	2		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)										0.325301	75.402819	77.647144	27	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115345649	115345649	7220	10	T	A	A	A	738	57	HABP2	3	3
NRAP	4892	broad.mit.edu	37	10	115381717	115381717	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115381717C>A	uc001lal.3	-	c.2680G>T	c.(2680-2682)GGC>TGC	p.G894C	NRAP_uc009xyb.2_Intron|NRAP_uc001laj.2_Missense_Mutation_p.G894C|NRAP_uc001lak.2_Missense_Mutation_p.G859C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	894	Nebulin 22.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.292857	103.654264	109.013242	41	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115381717	115381717	11043	10	C	A	A	A	312	24	NRAP	2	2
PPP2R2D	55844	broad.mit.edu	37	10	133758920	133758920	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:133758920G>A	uc001lks.2	+	c.678G>A	c.(676-678)CTG>CTA	p.L226L	PPP2R2D_uc001lkr.2_Silent_p.L32L|PPP2R2D_uc001lkt.2_Silent_p.L32L|PPP2R2D_uc009yay.2_Silent_p.L94L	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	259	WD 4.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity				0		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)										0.186667	24.695971	31.608465	14	61	KEEP	---	---	---	---	capture		Silent	SNP	133758920	133758920	12823	10	G	A	A	A	613	48	PPP2R2D	2	2
TUBGCP2	10844	broad.mit.edu	37	10	135102477	135102477	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135102477G>A	uc010qvc.1	-	c.1492C>T	c.(1492-1494)CCG>TCG	p.P498S	TUBGCP2_uc001lmf.1_Missense_Mutation_p.P63S|TUBGCP2_uc001lmg.1_Missense_Mutation_p.P470S|TUBGCP2_uc009ybk.1_Missense_Mutation_p.P470S|TUBGCP2_uc010qvd.1_Missense_Mutation_p.P340S|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	470					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	cytoplasmic microtubule|cytosol|microtubule organizing center|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)										0.225352	80.383812	90.182379	32	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135102477	135102477	17321	10	G	A	A	A	559	43	TUBGCP2	2	2
PCDH15	65217	broad.mit.edu	37	10	55826582	55826582	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55826582G>A	uc010qhy.1	-	c.2170C>T	c.(2170-2172)CCT>TCT	p.P724S	PCDH15_uc010qhq.1_Missense_Mutation_p.P724S|PCDH15_uc010qhr.1_Missense_Mutation_p.P719S|PCDH15_uc010qhs.1_Missense_Mutation_p.P731S|PCDH15_uc010qht.1_Missense_Mutation_p.P726S|PCDH15_uc010qhu.1_Missense_Mutation_p.P719S|PCDH15_uc001jjv.1_Missense_Mutation_p.P697S|PCDH15_uc010qhv.1_Missense_Mutation_p.P719S|PCDH15_uc010qhw.1_Missense_Mutation_p.P682S|PCDH15_uc010qhx.1_Missense_Mutation_p.P648S|PCDH15_uc010qhz.1_Missense_Mutation_p.P719S|PCDH15_uc010qia.1_Missense_Mutation_p.P697S|PCDH15_uc001jju.1_Missense_Mutation_p.P719S|PCDH15_uc010qib.1_Missense_Mutation_p.P697S|PCDH15_uc001jjw.2_Missense_Mutation_p.P719S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	719	Extracellular (Potential).|Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.24812	79.07946	86.786801	33	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55826582	55826582	11931	10	G	A	A	A	533	41	PCDH15	2	2
MYPN	84665	broad.mit.edu	37	10	69933835	69933835	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69933835G>C	uc001jnm.3	+	c.1986G>C	c.(1984-1986)CAG>CAC	p.Q662H	MYPN_uc001jnn.3_Missense_Mutation_p.Q387H|MYPN_uc001jno.3_Missense_Mutation_p.Q662H|MYPN_uc009xpt.2_Missense_Mutation_p.Q662H|MYPN_uc010qit.1_Missense_Mutation_p.Q368H|MYPN_uc010qiu.1_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	662	Interaction with NEB.					nucleus|sarcomere	actin binding			ovary(3)	3														0.252525	145.206497	156.263765	50	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69933835	69933835	10493	10	G	C	C	C	464	36	MYPN	3	3
KIAA1279	26128	broad.mit.edu	37	10	70776115	70776115	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70776115G>T	uc001joy.2	+	c.1809G>T	c.(1807-1809)ATG>ATT	p.M603I		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	603					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1														0.300971	79.376564	83.026219	31	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70776115	70776115	8530	10	G	T	T	T	611	47	KIAA1279	2	2
ITIH2	3698	broad.mit.edu	37	10	7774333	7774333	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7774333C>A	uc001ijs.2	+	c.1680C>A	c.(1678-1680)GCC>GCA	p.A560A		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	560					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.136364	7.91913	13.554813	6	38	KEEP	---	---	---	---	capture		Silent	SNP	7774333	7774333	8208	10	C	A	A	A	275	22	ITIH2	2	2
KIN	22944	broad.mit.edu	37	10	7801874	7801874	+	Silent	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7801874T>A	uc001ijt.2	-	c.1098A>T	c.(1096-1098)TCA>TCT	p.S366S	KIN_uc010qaz.1_Non-coding_Transcript|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Silent_p.S260S	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	366	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.1	4.003862	13.596111	6	54	KEEP	---	---	---	---	capture		Silent	SNP	7801874	7801874	8627	10	T	A	A	A	704	55	KIN	3	3
LGI1	9211	broad.mit.edu	37	10	95517964	95517964	+	Silent	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95517964T>C	uc001kjc.3	+	c.63T>C	c.(61-63)TAT>TAC	p.Y21Y	LGI1_uc010qnv.1_Silent_p.Y21Y|LGI1_uc001kjd.3_Silent_p.Y21Y|LGI1_uc009xui.2_Non-coding_Transcript|LGI1_uc001kje.2_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	21					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.124)												0.163043	35.869034	45.791981	15	77	KEEP	---	---	---	---	capture		Silent	SNP	95517964	95517964	9077	10	T	C	C	C	673	52	LGI1	4	4
ELMOD1	55531	broad.mit.edu	37	11	107501260	107501260	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107501260G>T	uc010rvs.1	+	c.135G>T	c.(133-135)AAG>AAT	p.K45N	ELMOD1_uc001pjm.2_Missense_Mutation_p.K45N|ELMOD1_uc010rvt.1_Missense_Mutation_p.K39N	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	45					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)										0.208333	10.960155	12.85222	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107501260	107501260	5260	11	G	T	T	T	438	34	ELMOD1	2	2
ATM	472	broad.mit.edu	37	11	108160401	108160401	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108160401A>T	uc001pkb.1	+	c.4309A>T	c.(4309-4311)AGA>TGA	p.R1437*	ATM_uc009yxr.1_Nonsense_Mutation_p.R1437*|ATM_uc001pkd.3_Nonsense_Mutation_p.R89*|ATM_uc001pke.1_Nonsense_Mutation_p.R89*|ATM_uc010rvw.1_Nonsense_Mutation_p.R89*|ATM_uc001pkf.2_Nonsense_Mutation_p.R89*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1437					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)						1073	TSP Lung(14;0.12)			0.189189	14.103091	17.447546	7	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108160401	108160401	1128	11	A	T	T	T	88	7	ATM	5	3
ABCG4	64137	broad.mit.edu	37	11	119024853	119024853	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119024853G>A	uc001pvs.2	+	c.356G>A	c.(355-357)AGG>AAG	p.R119K	ABCG4_uc009zar.2_Missense_Mutation_p.R119K|ABCG4_uc001pvt.1_Non-coding_Transcript	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	119	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.201754	54.657873	64.081834	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119024853	119024853	71	11	G	A	A	A	455	35	ABCG4	2	2
BLID	414899	broad.mit.edu	37	11	121986476	121986476	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121986476C>G	uc001pyf.2	-	c.155G>C	c.(154-156)GGT>GCT	p.G52A	LOC399959_uc009zba.2_Intron	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN	BRCC2 protein	52					apoptosis	mitochondrion					0		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)								OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.196809	88.458027	104.570412	37	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121986476	121986476	1468	11	C	G	G	G	234	18	BLID	3	3
PRDM10	56980	broad.mit.edu	37	11	129817146	129817146	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129817146C>T	uc001qfm.2	-	c.414G>A	c.(412-414)GAG>GAA	p.E138E	PRDM10_uc001qfj.2_Silent_p.E52E|PRDM10_uc001qfk.2_Silent_p.E52E|PRDM10_uc001qfl.2_Silent_p.E52E|PRDM10_uc010sbx.1_Silent_p.E52E|PRDM10_uc001qfn.2_Silent_p.E138E|PRDM10_uc009zct.1_Silent_p.E170E	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)										0.116071	17.489017	33.743028	13	99	KEEP	---	---	---	---	capture		Silent	SNP	129817146	129817146	12893	11	C	T	T	T	311	24	PRDM10	2	2
MRGPRX4	117196	broad.mit.edu	37	11	18195006	18195006	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18195006T>C	uc001mnv.1	+	c.203T>C	c.(202-204)CTG>CCG	p.L68P		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	68	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.329545	78.938475	81.20854	29	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18195006	18195006	10162	11	T	C	C	C	715	55	MRGPRX4	4	4
ANO3	63982	broad.mit.edu	37	11	26677674	26677674	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26677674G>T	uc001mqt.3	+	c.2579G>T	c.(2578-2580)TGC>TTC	p.C860F	ANO3_uc010rdr.1_Missense_Mutation_p.C844F|ANO3_uc010rds.1_Missense_Mutation_p.C699F|ANO3_uc010rdt.1_Missense_Mutation_p.C714F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	860	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.271028	74.464025	79.500934	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26677674	26677674	706	11	G	T	T	T	598	46	ANO3	2	2
SLC5A12	159963	broad.mit.edu	37	11	26725452	26725452	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26725452C>A	uc001mra.2	-	c.568G>T	c.(568-570)GTT>TTT	p.V190F	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.3_Missense_Mutation_p.V190F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	190	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.099237	16.771151	58.829179	26	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26725452	26725452	15161	11	C	A	A	A	234	18	SLC5A12	2	2
HBD	3045	broad.mit.edu	37	11	5255339	5255339	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5255339T>C	uc001maf.1	-	c.197A>G	c.(196-198)AAG>AGG	p.K66R		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	66					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)						3				0.342593	124.743604	127.107191	37	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5255339	5255339	7261	11	T	C	C	C	728	56	HBD	4	4
OR4A15	81328	broad.mit.edu	37	11	55135855	55135855	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135855C>T	uc010rif.1	+	c.496C>T	c.(496-498)CGT>TGT	p.R166C		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	166	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.241935	251.763521	278.125828	105	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135855	55135855	11446	11	C	T	T	T	403	31	OR4A15	1	1
OR5W2	390148	broad.mit.edu	37	11	55681403	55681403	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55681403C>T	uc010rir.1	-	c.656G>A	c.(655-657)TGT>TAT	p.C219Y		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.242991	59.19106	65.639389	26	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55681403	55681403	11595	11	C	T	T	T	221	17	OR5W2	2	2
OR5W2	390148	broad.mit.edu	37	11	55681593	55681593	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55681593C>G	uc010rir.1	-	c.466G>C	c.(466-468)GCT>CCT	p.A156P		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.151724	49.148882	65.992724	22	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55681593	55681593	11595	11	C	G	G	G	325	25	OR5W2	3	3
MS4A12	54860	broad.mit.edu	37	11	60274525	60274525	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60274525C>A	uc001npr.2	+	c.732C>A	c.(730-732)AGC>AGA	p.S244R		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	244	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.150376	32.843766	48.403309	20	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60274525	60274525	10249	11	C	A	A	A	324	25	MS4A12	2	2
CCKBR	887	broad.mit.edu	37	11	6291976	6291976	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6291976G>A	uc001mcs.2	+	c.754G>A	c.(754-756)GAC>AAC	p.D252N	CCKBR_uc001mcp.2_Missense_Mutation_p.D252N|CCKBR_uc001mcq.2_Missense_Mutation_p.D180N|CCKBR_uc001mcr.2_Missense_Mutation_p.D252N|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	210	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)									0.304878	61.238535	64.027188	25	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6291976	6291976	3006	11	G	A	A	A	585	45	CCKBR	2	2
MACROD1	28992	broad.mit.edu	37	11	63918756	63918756	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63918756G>A	uc001nyh.2	-	c.472C>T	c.(472-474)CGC>TGC	p.R158C		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	158	Macro.										0														0.157303	23.49566	33.466024	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63918756	63918756	9522	11	G	A	A	A	507	39	MACROD1	1	1
RNF121	55298	broad.mit.edu	37	11	71693869	71693869	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71693869G>T	uc001ora.2	+	c.306G>T	c.(304-306)TGG>TGT	p.W102C	RNF121_uc001ord.2_Missense_Mutation_p.W21C|RNF121_uc001orb.2_Missense_Mutation_p.W70C|RNF121_uc009yst.2_Missense_Mutation_p.W70C	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	102	Helical; (Potential).					integral to membrane	zinc ion binding				0														0.228426	92.060253	105.402993	45	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71693869	71693869	13908	11	G	T	T	T	533	41	RNF121	2	2
STAB2	55576	broad.mit.edu	37	12	104129313	104129313	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104129313G>A	uc001tjw.2	+	c.5505G>A	c.(5503-5505)CTG>CTA	p.L1835L	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1835	Extracellular (Potential).|FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.205128	16.577555	19.724001	8	31	KEEP	---	---	---	---	capture		Silent	SNP	104129313	104129313	15756	12	G	A	A	A	587	46	STAB2	2	2
TBX5	6910	broad.mit.edu	37	12	114841688	114841688	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114841688C>A	uc001tvo.2	-	c.16G>T	c.(16-18)GAG>TAG	p.E6*	TBX5_uc001tvp.2_Nonsense_Mutation_p.E6*|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Nonsense_Mutation_p.E6*	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	6					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)	7	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		NSCLC(152;1358 1980 4050 23898 40356)								0.228571	19.88539	22.248077	8	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	114841688	114841688	16187	12	C	A	A	A	403	31	TBX5	5	1
MED13L	23389	broad.mit.edu	37	12	116421007	116421007	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116421007C>A	uc001tvw.2	-	c.4870G>T	c.(4870-4872)GAT>TAT	p.D1624Y		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1624					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.322917	75.576886	78.257586	31	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116421007	116421007	9820	12	C	A	A	A	390	30	MED13L	2	2
SBNO1	55206	broad.mit.edu	37	12	123782543	123782543	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123782543C>A	uc010tap.1	-	c.4021G>T	c.(4021-4023)GAT>TAT	p.D1341Y	SBNO1_uc009zxv.2_Non-coding_Transcript|SBNO1_uc010tao.1_Missense_Mutation_p.D1340Y|SBNO1_uc010taq.1_Missense_Mutation_p.D292Y	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1341							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)										0.230415	107.720121	122.19078	50	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123782543	123782543	14343	12	C	A	A	A	416	32	SBNO1	2	2
MMP17	4326	broad.mit.edu	37	12	132325241	132325241	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132325241C>A	uc001ujc.1	+	c.546C>A	c.(544-546)GCC>GCA	p.A182A	MMP17_uc001ujd.1_Silent_p.A98A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	182				A -> T (in Ref. 1; BAA82707 and 2; CAA61753).	proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)										0.196078	44.249557	53.02442	20	82	KEEP	---	---	---	---	capture		Silent	SNP	132325241	132325241	10046	12	C	A	A	A	288	23	MMP17	1	1
ATF7IP	55729	broad.mit.edu	37	12	14634051	14634051	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14634051C>T	uc001rbw.2	+	c.3212C>T	c.(3211-3213)CCA>CTA	p.P1071L	ATF7IP_uc001rbv.1_Missense_Mutation_p.P1070L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P1070L|ATF7IP_uc001rby.3_Missense_Mutation_p.P1071L|ATF7IP_uc001rca.2_Missense_Mutation_p.P1071L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1071					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5														0.221429	69.93942	79.948272	31	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14634051	14634051	1106	12	C	T	T	T	273	21	ATF7IP	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.166667	7.182992	9.714434	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
ANO6	196527	broad.mit.edu	37	12	45823076	45823076	+	Silent	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45823076A>G	uc010slf.1	+	c.2778A>G	c.(2776-2778)TTA>TTG	p.L926L	ANO6_uc001roo.2_Silent_p.L905L|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.1_Silent_p.L887L	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	905	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.170213	20.173667	25.006176	8	39	KEEP	---	---	---	---	capture		Silent	SNP	45823076	45823076	709	12	A	G	G	G	180	14	ANO6	4	4
KCNA5	3741	broad.mit.edu	37	12	5155110	5155110	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5155110C>A	uc001qni.2	+	c.1797C>A	c.(1795-1797)TCC>TCA	p.S599S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	599						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.322581	46.641898	48.395076	20	42	KEEP	---	---	---	---	capture		Silent	SNP	5155110	5155110	8311	12	C	A	A	A	275	22	KCNA5	2	2
KRT84	3890	broad.mit.edu	37	12	52778968	52778968	+	Silent	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52778968G>T	uc001sah.1	-	c.402C>A	c.(400-402)GCC>GCA	p.A134A		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	134	Head.					keratin filament	structural constituent of epidermis				0	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)										0.282958	212.856162	226.025871	88	223	KEEP	---	---	---	---	capture		Silent	SNP	52778968	52778968	8813	12	G	T	T	T	548	43	KRT84	2	2
KRT73	319101	broad.mit.edu	37	12	53012212	53012212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53012212G>A	uc001sas.2	-	c.97C>T	c.(97-99)CGA>TGA	p.R33*		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	33	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.262712	75.369737	81.384279	31	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53012212	53012212	8801	12	G	A	A	A	506	39	KRT73	5	1
EIF4B	1975	broad.mit.edu	37	12	53427638	53427638	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53427638A>G	uc010snu.1	+	c.1028A>G	c.(1027-1029)AAG>AGG	p.K343R	EIF4B_uc001sbh.3_Missense_Mutation_p.K343R|EIF4B_uc010snv.1_Missense_Mutation_p.K304R|EIF4B_uc001sbi.2_Missense_Mutation_p.K95R	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	343				K -> E (in Ref. 1; CAA39265).	insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2										304				0.358491	66.411302	67.345549	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53427638	53427638	5218	12	A	G	G	G	39	3	EIF4B	4	4
NFE2	4778	broad.mit.edu	37	12	54686186	54686186	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54686186C>T	uc009znk.2	-	c.1094G>A	c.(1093-1095)CGG>CAG	p.R365Q	NFE2_uc001sfq.2_Missense_Mutation_p.R365Q|NFE2_uc001sfr.3_Missense_Mutation_p.R365Q|NFE2_uc009znl.2_Missense_Mutation_p.R365Q	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	365					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulator activity|WW domain binding				0														0.104478	4.463635	14.961537	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54686186	54686186	10766	12	C	T	T	T	299	23	NFE2	1	1
CD63	967	broad.mit.edu	37	12	56120552	56120552	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56120552G>A	uc001shm.2	-	c.358C>T	c.(358-360)CGG>TGG	p.R120W	CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	120	Extracellular (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						Pancreas(123;1459 1747 6717 18841 37380)								0.099057	13.509395	47.627504	21	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56120552	56120552	3157	12	G	A	A	A	506	39	CD63	1	1
GLI1	2735	broad.mit.edu	37	12	57864593	57864593	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57864593C>T	uc001snx.2	+	c.2070C>T	c.(2068-2070)CCC>CCT	p.P690P	GLI1_uc009zpq.2_Silent_p.P562P	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	690					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.168831	25.535036	33.525841	13	64	KEEP	---	---	---	---	capture		Silent	SNP	57864593	57864593	6705	12	C	T	T	T	262	21	GLI1	2	2
XPOT	11260	broad.mit.edu	37	12	64814179	64814179	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64814179G>T	uc001ssb.2	+	c.721G>T	c.(721-723)GAA>TAA	p.E241*	XPOT_uc009zqm.1_Nonsense_Mutation_p.E151*	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	241	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)										0.224138	56.486338	64.603143	26	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64814179	64814179	18033	12	G	T	T	T	533	41	XPOT	5	2
OSBPL8	114882	broad.mit.edu	37	12	76779954	76779954	+	Silent	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76779954A>G	uc001sye.1	-	c.1527T>C	c.(1525-1527)GCT>GCC	p.A509A	OSBPL8_uc001syf.1_Silent_p.A467A|OSBPL8_uc001syg.1_Silent_p.A467A|OSBPL8_uc001syh.1_Silent_p.A484A	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	509					lipid transport		lipid binding			ovary(1)	1														0.219512	20.553048	23.524324	9	32	KEEP	---	---	---	---	capture		Silent	SNP	76779954	76779954	11694	12	A	G	G	G	80	7	OSBPL8	4	4
E2F7	144455	broad.mit.edu	37	12	77421759	77421759	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77421759G>T	uc001sym.3	-	c.2044C>A	c.(2044-2046)CCT>ACT	p.P682T	E2F7_uc009zse.2_Missense_Mutation_p.P169T	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	682					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.21393	88.601785	103.807341	43	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77421759	77421759	5058	12	G	T	T	T	533	41	E2F7	2	2
NAV3	89795	broad.mit.edu	37	12	78444594	78444594	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78444594G>T	uc001syp.2	+	c.2183G>T	c.(2182-2184)AGG>ATG	p.R728M	NAV3_uc001syo.2_Missense_Mutation_p.R728M|NAV3_uc010sub.1_Missense_Mutation_p.R228M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	728						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.212329	67.336899	78.51155	31	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78444594	78444594	10581	12	G	T	T	T	455	35	NAV3	2	2
LNX2	222484	broad.mit.edu	37	13	28143301	28143301	+	Silent	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28143301A>G	uc001url.3	-	c.520T>C	c.(520-522)TTA>CTA	p.L174L	LNX2_uc001urm.1_Silent_p.L174L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	174							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)						288				0.330033	329.706848	337.460126	100	203	KEEP	---	---	---	---	capture		Silent	SNP	28143301	28143301	9195	13	A	G	G	G	37	3	LNX2	4	4
PLD4	122618	broad.mit.edu	37	14	105395257	105395257	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105395257G>A	uc010tyl.1	+	c.477G>A	c.(475-477)TCG>TCA	p.S159S	PLD4_uc001ypu.1_Silent_p.S152S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	152					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)									0.223881	31.598588	36.289248	15	52	KEEP	---	---	---	---	capture		Silent	SNP	105395257	105395257	12474	14	G	A	A	A	509	40	PLD4	1	1
OR11H6	122748	broad.mit.edu	37	14	20692480	20692480	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20692480A>T	uc010tlc.1	+	c.612A>T	c.(610-612)GCA>GCT	p.A204A		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	204	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)										0.295082	49.581769	51.905152	18	43	KEEP	---	---	---	---	capture		Silent	SNP	20692480	20692480	11335	14	A	T	T	T	67	6	OR11H6	3	3
TEP1	7011	broad.mit.edu	37	14	20857777	20857777	+	Silent	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20857777T>A	uc001vxe.2	-	c.2457A>T	c.(2455-2457)GTA>GTT	p.V819V	TEP1_uc010ahk.2_Silent_p.V169V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.V711V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	819					telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.3	95.963518	100.246411	36	84	KEEP	---	---	---	---	capture		Silent	SNP	20857777	20857777	16286	14	T	A	A	A	730	57	TEP1	3	3
OR5AU1	390445	broad.mit.edu	37	14	21623954	21623954	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21623954C>T	uc010tlp.1	-	c.231G>A	c.(229-231)CTG>CTA	p.L77L		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)										0.220339	24.476519	28.705414	13	46	KEEP	---	---	---	---	capture		Silent	SNP	21623954	21623954	11557	14	C	T	T	T	314	25	OR5AU1	2	2
CHD8	57680	broad.mit.edu	37	14	21878145	21878145	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21878145G>A	uc001was.1	-	c.1392C>T	c.(1390-1392)CCC>CCT	p.P464P	CHD8_uc001war.1_Silent_p.P360P|CHD8_uc001wav.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	743	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.306122	43.605664	45.248749	15	34	KEEP	---	---	---	---	capture		Silent	SNP	21878145	21878145	3465	14	G	A	A	A	496	39	CHD8	1	1
CHD8	57680	broad.mit.edu	37	14	21896230	21896230	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21896230C>T	uc001was.1	-	c.562G>A	c.(562-564)GAG>AAG	p.E188K	CHD8_uc001war.1_Missense_Mutation_p.E84K	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	467					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.128514	42.032236	75.509053	32	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21896230	21896230	3465	14	C	T	T	T	416	32	CHD8	2	2
MYH6	4624	broad.mit.edu	37	14	23855623	23855623	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23855623C>A	uc001wjv.2	-	c.4860G>T	c.(4858-4860)ATG>ATT	p.M1620I		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1620	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.229947	95.91862	108.430623	43	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23855623	23855623	10433	14	C	A	A	A	273	21	MYH6	2	2
PRKD1	5587	broad.mit.edu	37	14	30133002	30133002	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30133002C>A	uc001wqh.2	-	c.599G>T	c.(598-600)AGG>ATG	p.R200M		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	200	Poly-Arg.				cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.200969	162.029904	196.44378	83	330	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30133002	30133002	12961	14	C	A	A	A	312	24	PRKD1	2	2
FAM71D	161142	broad.mit.edu	37	14	67675040	67675040	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67675040G>C	uc001xja.1	+	c.1034G>C	c.(1033-1035)AGA>ACA	p.R345T	FAM71D_uc010aqn.1_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	345										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)										0.06383	-2.730858	15.87663	6	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67675040	67675040	5833	14	G	C	C	C	429	33	FAM71D	3	3
ACTN1	87	broad.mit.edu	37	14	69347566	69347566	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69347566C>A	uc001xkm.2	-	c.2094G>T	c.(2092-2094)GCG>GCT	p.A698A	ACTN1_uc001xkk.2_Silent_p.A294A|ACTN1_uc010ttb.1_Silent_p.A633A|ACTN1_uc001xkl.2_Silent_p.A698A|ACTN1_uc001xkn.2_Silent_p.A698A|ACTN1_uc010ttc.1_Silent_p.A283A	NM_001130004	NP_001123476	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform a	698	Spectrin 4.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)										0.351515	166.91769	170.118562	58	107	KEEP	---	---	---	---	capture		Silent	SNP	69347566	69347566	205	14	C	A	A	A	340	27	ACTN1	1	1
ESRRB	2103	broad.mit.edu	37	14	76948374	76948374	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76948374G>T	uc001xsr.2	+	c.530G>T	c.(529-531)CGA>CTA	p.R177L	ESRRB_uc001xso.2_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.R177L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	177					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0213)										0.202703	35.584279	41.657872	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76948374	76948374	5454	14	G	T	T	T	481	37	ESRRB	1	1
C14orf49	161176	broad.mit.edu	37	14	95910832	95910832	+	Nonsense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95910832G>C	uc001yei.3	-	c.1766C>G	c.(1765-1767)TCA>TGA	p.S589*	C14orf49_uc010avi.2_Nonsense_Mutation_p.S589*|C14orf49_uc001yej.1_Nonsense_Mutation_p.S589*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	589	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)										0.40678	81.887795	82.336217	24	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	95910832	95910832	1826	14	G	C	C	C	585	45	C14orf49	5	3
LRRK1	79705	broad.mit.edu	37	15	101523840	101523840	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101523840A>T	uc002bwr.2	+	c.369A>T	c.(367-369)CCA>CCT	p.P123P	LRRK1_uc010usb.1_Non-coding_Transcript|LRRK1_uc010usc.1_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.P123P	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	123	ANK 2.				protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)							1100				0.363636	66.180605	67.260829	24	42	KEEP	---	---	---	---	capture		Silent	SNP	101523840	101523840	9408	15	A	T	T	T	80	7	LRRK1	3	3
HERC2	8924	broad.mit.edu	37	15	28456198	28456198	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28456198C>G	uc001zbj.2	-	c.7019G>C	c.(7018-7020)CGG>CCG	p.R2340P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2340					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				0.142857	35.099072	49.71998	17	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28456198	28456198	7341	15	C	G	G	G	299	23	HERC2	3	3
GJD2	57369	broad.mit.edu	37	15	35045111	35045111	+	Silent	SNP	T	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35045111T>G	uc001zis.1	-	c.534A>C	c.(532-534)CCA>CCC	p.P178P		NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	178	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)										0.151163	93.972738	124.026404	39	219	KEEP	---	---	---	---	capture		Silent	SNP	35045111	35045111	6685	15	T	G	G	G	652	51	GJD2	4	4
ZNF280D	54816	broad.mit.edu	37	15	56923982	56923982	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56923982C>G	uc002adu.2	-	c.2654G>C	c.(2653-2655)CGA>CCA	p.R885P	ZNF280D_uc002adv.2_Missense_Mutation_p.R872P|ZNF280D_uc010bfq.2_Missense_Mutation_p.R885P|ZNF280D_uc002adt.2_Missense_Mutation_p.R126P|ZNF280D_uc010bfp.2_Non-coding_Transcript	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)										0.103448	13.256284	26.834765	9	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56923982	56923982	18409	15	C	G	G	G	403	31	ZNF280D	3	3
NOX5	79400	broad.mit.edu	37	15	69327818	69327818	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69327818T>A	uc002ars.1	+	c.980T>A	c.(979-981)GTG>GAG	p.V327E	NOX5_uc002arp.1_Missense_Mutation_p.V309E|NOX5_uc002arq.1_Missense_Mutation_p.V281E|NOX5_uc010bid.1_Missense_Mutation_p.V292E|NOX5_uc002arr.1_Missense_Mutation_p.V299E|NOX5_uc010bie.1_Missense_Mutation_p.V127E|NOX5_uc010bif.1_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	327	Ferric oxidoreductase.|Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2														0.112903	8.382192	17.552926	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69327818	69327818	10963	15	T	A	A	A	767	59	NOX5	3	3
RHCG	51458	broad.mit.edu	37	15	90020439	90020439	+	Splice_Site_SNP	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90020439T>A	uc002bnz.2	-	c.1113_splice	c.e8-1	p.G371_splice	RHCG_uc002bny.2_Splice_Site_SNP_p.G142_splice|RHCG_uc002boa.2_Splice_Site_SNP	NM_016321	NP_057405			Rh family, C glycoprotein						amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.061947	-8.05101	14.551453	7	106	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	90020439	90020439	13801	15	T	A	A	A	715	55	RHCG	5	3
SV2B	9899	broad.mit.edu	37	15	91835612	91835612	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91835612G>T	uc002bqv.2	+	c.1882G>T	c.(1882-1884)GGC>TGC	p.G628C	SV2B_uc010uqv.1_Missense_Mutation_p.G477C|SV2B_uc002bqu.3_Non-coding_Transcript	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	628	Helical; (Potential).				neurotransmitter transport|transmembrane transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|central_nervous_system(2)	5	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)											0.304	106.501032	110.787384	38	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91835612	91835612	15938	15	G	T	T	T	507	39	SV2B	1	1
GTF3C1	2975	broad.mit.edu	37	16	27476052	27476052	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27476052C>G	uc002dov.1	-	c.5461G>C	c.(5461-5463)GAC>CAC	p.D1821H	GTF3C1_uc002dou.2_Missense_Mutation_p.D1821H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1821					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.285714	68.317105	71.490408	22	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27476052	27476052	7152	16	C	G	G	G	416	32	GTF3C1	3	3
NOD2	64127	broad.mit.edu	37	16	50746260	50746260	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50746260G>C	uc002egm.1	+	c.2438G>C	c.(2437-2439)TGC>TCC	p.C813S	NOD2_uc010cbk.1_Missense_Mutation_p.C786S|NOD2_uc002egl.1_Missense_Mutation_p.C591S|NOD2_uc010cbl.1_Missense_Mutation_p.C591S|NOD2_uc010cbm.1_Missense_Mutation_p.C591S|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Non-coding_Transcript	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	813					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.266055	161.448535	172.237095	58	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50746260	50746260	10920	16	G	C	C	C	598	46	NOD2	3	3
SLC6A2	6530	broad.mit.edu	37	16	55719131	55719131	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55719131C>A	uc002eif.2	+	c.721C>A	c.(721-723)CTG>ATG	p.L241M	SLC6A2_uc010ccd.2_Missense_Mutation_p.L241M|SLC6A2_uc002eig.2_Missense_Mutation_p.L241M|SLC6A2_uc002eih.2_Missense_Mutation_p.L241M|SLC6A2_uc002eii.2_Missense_Mutation_p.L136M|SLC6A2_uc002eij.2_De_novo_Start_InFrame	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	241	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.18	14.540679	19.361676	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55719131	55719131	15180	16	C	A	A	A	415	32	SLC6A2	2	2
ZNF23	7571	broad.mit.edu	37	16	71482826	71482826	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482826C>T	uc002fai.2	-	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	ZNF23_uc002fad.2_Missense_Mutation_p.E310K|ZNF23_uc002fae.2_Missense_Mutation_p.E310K|ZNF23_uc002faf.2_Missense_Mutation_p.E368K|ZNF23_uc010vmf.1_Missense_Mutation_p.E310K|ZNF23_uc002fag.2_Missense_Mutation_p.E310K|ZNF23_uc002fah.2_Missense_Mutation_p.E368K	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	368	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.351351	76.425727	77.869007	26	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71482826	71482826	18374	16	C	T	T	T	416	32	ZNF23	2	2
MYH13	8735	broad.mit.edu	37	17	10265549	10265549	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10265549A>T	uc002gmk.1	-	c.391T>A	c.(391-393)TGG>AGG	p.W131R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	131	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.453125	87.871946	87.99367	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10265549	10265549	10427	17	A	T	T	T	78	6	MYH13	3	3
DNAH9	1770	broad.mit.edu	37	17	11583119	11583119	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11583119A>T	uc002gne.2	+	c.3399A>T	c.(3397-3399)TTA>TTT	p.L1133F	DNAH9_uc010coo.2_Missense_Mutation_p.L427F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1133	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.224242	83.700727	95.22488	37	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11583119	11583119	4791	17	A	T	T	T	180	14	DNAH9	3	3
USP22	23326	broad.mit.edu	37	17	20922486	20922486	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20922486T>C	uc002gym.3	-	c.431A>G	c.(430-432)AAG>AGG	p.K144R	USP22_uc002gyn.3_Missense_Mutation_p.K132R|USP22_uc002gyl.3_Missense_Mutation_p.K39R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	144					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding				0														0.261146	130.915045	139.012828	41	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20922486	20922486	17617	17	T	C	C	C	728	56	USP22	4	4
LHX1	3975	broad.mit.edu	37	17	35297911	35297911	+	Silent	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35297911C>G	uc002hnh.1	+	c.402C>G	c.(400-402)ACC>ACG	p.T134T	LHX1_uc010cux.1_Silent_p.T42T	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	134					organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(25;0.00607)												0.255319	31.77629	34.329763	12	35	KEEP	---	---	---	---	capture		Silent	SNP	35297911	35297911	9096	17	C	G	G	G	262	21	LHX1	3	3
GJC1	10052	broad.mit.edu	37	17	42882388	42882388	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42882388C>A	uc002ihj.2	-	c.798G>T	c.(796-798)AGG>AGT	p.R266S	GJC1_uc002ihk.2_Missense_Mutation_p.R266S|GJC1_uc002ihl.2_Missense_Mutation_p.R266S|GJC1_uc010czx.2_Missense_Mutation_p.R266S|GJC1_uc010czy.1_Missense_Mutation_p.R127S	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	266	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)												0.095238	4.145354	38.697425	20	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42882388	42882388	6682	17	C	A	A	A	389	30	GJC1	2	2
MINK1	50488	broad.mit.edu	37	17	4787674	4787674	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4787674G>T	uc010vsl.1	+	c.323G>T	c.(322-324)TGT>TTT	p.C108F	MINK1_uc010vsk.1_Missense_Mutation_p.C108F|MINK1_uc010vsm.1_Missense_Mutation_p.C108F|MINK1_uc010vsn.1_Missense_Mutation_p.C108F|MINK1_uc010vso.1_Missense_Mutation_p.C53F|MINK1_uc010vsp.1_5'Flank	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	108	Protein kinase.				JNK cascade|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6										511				0.145833	11.291842	17.082522	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4787674	4787674	9977	17	G	T	T	T	624	48	MINK1	2	2
ANKFN1	162282	broad.mit.edu	37	17	54517752	54517752	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54517752G>T	uc002iun.1	+	c.984G>T	c.(982-984)CAG>CAT	p.Q328H		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	328	Fibronectin type-III.									large_intestine(1)|ovary(1)	2														0.193548	19.852535	25.30343	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54517752	54517752	628	17	G	T	T	T	425	33	ANKFN1	2	2
RAB40B	10966	broad.mit.edu	37	17	80622412	80622412	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80622412T>A	uc002kft.2	-	c.163A>T	c.(163-165)ACC>TCC	p.T55S	RAB40B_uc002kfs.2_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	55					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)											0.203704	49.899622	58.696363	22	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80622412	80622412	13400	17	T	A	A	A	767	59	RAB40B	3	3
TBCD	6904	broad.mit.edu	37	17	80828189	80828189	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80828189G>T	uc002kfy.1	+	c.1408G>T	c.(1408-1410)GTG>TTG	p.V470L	TBCD_uc002kfx.1_Missense_Mutation_p.V453L|TBCD_uc002kfz.2_Missense_Mutation_p.V470L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	470					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)											0.209302	22.952648	26.314725	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80828189	80828189	16159	17	G	T	T	T	520	40	TBCD	1	1
ASXL3	80816	broad.mit.edu	37	18	31319575	31319575	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31319575T>C	uc010dmg.1	+	c.2207T>C	c.(2206-2208)CTC>CCC	p.L736P	ASXL3_uc002kxq.2_Missense_Mutation_p.L443P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	736	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.254777	356.642967	382.29927	120	351	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31319575	31319575	1087	18	T	C	C	C	702	54	ASXL3	4	4
KIAA1632	57724	broad.mit.edu	37	18	43460143	43460143	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43460143A>T	uc002lbm.2	-	c.5564T>A	c.(5563-5565)CTG>CAG	p.L1855Q	KIAA1632_uc010xcq.1_Missense_Mutation_p.L409Q|KIAA1632_uc010xcr.1_Non-coding_Transcript|KIAA1632_uc010xcs.1_Non-coding_Transcript|KIAA1632_uc002lbn.2_Missense_Mutation_p.L730Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1855					autophagy						0												OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.195652	17.659197	21.624272	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43460143	43460143	8558	18	A	T	T	T	91	7	KIAA1632	3	3
CLUL1	27098	broad.mit.edu	37	18	627315	627315	+	Missense_Mutation	SNP	A	T	T	rs115407065	by1000genomes	TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:627315A>T	uc010wys.1	+	c.798A>T	c.(796-798)CAA>CAT	p.Q266H	CLUL1_uc002kkp.2_Missense_Mutation_p.Q214H|CLUL1_uc002kkq.2_Missense_Mutation_p.Q214H	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	214					cell death	extracellular region				ovary(2)	2														0.237822	208.85387	230.767008	83	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	627315	627315	3708	18	A	T	T	T	50	4	CLUL1	3	3
RTTN	25914	broad.mit.edu	37	18	67860546	67860546	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67860546C>A	uc002lkp.2	-	c.985G>T	c.(985-987)GAC>TAC	p.D329Y	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D329Y	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	329							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.261364	50.979358	55.519787	23	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67860546	67860546	14217	18	C	A	A	A	390	30	RTTN	2	2
USF2	7392	broad.mit.edu	37	19	35761708	35761708	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35761708C>T	uc002nyq.1	+	c.668C>T	c.(667-669)CCA>CTA	p.P223L	USF2_uc010xss.1_Missense_Mutation_p.P223L|USF2_uc002nyr.1_Missense_Mutation_p.P156L|USF2_uc002nys.1_Missense_Mutation_p.P25L|USF2_uc002nyt.1_Missense_Mutation_p.P92L|USF2_uc002nyu.1_Missense_Mutation_p.P25L|USF2_uc002nyv.1_Missense_Mutation_p.P25L	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	223					late viral mRNA transcription|lipid homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			NSCLC(103;173 2832 8890)								0.253968	80.144271	87.064009	32	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35761708	35761708	17595	19	C	T	T	T	299	23	USF2	1	1
EID2B	126272	broad.mit.edu	37	19	40023401	40023401	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40023401G>A	uc002olz.1	-	c.42C>T	c.(40-42)CCC>CCT	p.P14P		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation	14					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)									OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	7.554453	8.21305	3	9	KEEP	---	---	---	---	capture		Silent	SNP	40023401	40023401	5177	19	G	A	A	A	496	39	EID2B	1	1
CCDC61	729440	broad.mit.edu	37	19	46521386	46521386	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46521386C>T	uc002pdw.2	+	c.1476C>T	c.(1474-1476)TCC>TCT	p.S492S	MIR769_hsa-mir-769|MI0003834_5'Flank	NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)										0.181818	7.887042	9.979524	4	18	KEEP	---	---	---	---	capture		Silent	SNP	46521386	46521386	2955	19	C	T	T	T	288	23	CCDC61	1	1
UHRF1	29128	broad.mit.edu	37	19	4950700	4950700	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4950700C>A	uc002mbp.2	+	c.1634C>A	c.(1633-1635)CCG>CAG	p.P545Q	UHRF1_uc002mbo.2_Missense_Mutation_p.P532Q|UHRF1_uc010xik.1_Non-coding_Transcript|UHRF1_uc010duf.2_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	532	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)										0.125	4.910841	8.205371	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4950700	4950700	17525	19	C	A	A	A	299	23	UHRF1	1	1
NLRP7	199713	broad.mit.edu	37	19	55450436	55450436	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55450436G>A	uc010esl.2	-	c.1835C>T	c.(1834-1836)GCG>GTG	p.A612V	NLRP7_uc002qig.3_Missense_Mutation_p.A584V|NLRP7_uc002qii.3_Missense_Mutation_p.A584V|NLRP7_uc002qih.3_Missense_Mutation_p.A584V|NLRP7_uc010esk.2_Missense_Mutation_p.A584V	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	584							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.088235	0.509961	12.15791	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55450436	55450436	10885	19	G	A	A	A	494	38	NLRP7	1	1
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56320357G>A	uc010ygf.1	-	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	NLRP11_uc002qlz.2_Missense_Mutation_p.T441M|NLRP11_uc002qmb.2_Missense_Mutation_p.T441M|NLRP11_uc002qmc.2_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)										0.147541	36.787451	58.66323	27	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56320357	56320357	10876	19	G	A	A	A	520	40	NLRP11	1	1
NLRP4	147945	broad.mit.edu	37	19	56369782	56369782	+	Silent	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369782G>T	uc002qmd.3	+	c.1023G>T	c.(1021-1023)CCG>CCT	p.P341P	NLRP4_uc002qmf.2_Silent_p.P266P|NLRP4_uc010etf.2_Silent_p.P172P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	341	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.164557	24.77068	33.174424	13	66	KEEP	---	---	---	---	capture		Silent	SNP	56369782	56369782	10882	19	G	T	T	T	483	38	NLRP4	1	1
EMR1	2015	broad.mit.edu	37	19	6890553	6890553	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6890553G>T	uc002mfw.2	+	c.93G>T	c.(91-93)AAG>AAT	p.K31N	EMR1_uc010dvc.2_Missense_Mutation_p.K31N|EMR1_uc010dvb.2_Missense_Mutation_p.K31N|EMR1_uc010xji.1_Missense_Mutation_p.K31N|EMR1_uc010xjj.1_Missense_Mutation_p.K31N	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	31	Extracellular (Potential).|EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.093023	0.260649	7.443845	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6890553	6890553	5297	19	G	T	T	T	451	35	EMR1	2	2
COL11A1	1301	broad.mit.edu	37	1	103435776	103435776	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103435776G>T	uc001dum.2	-	c.2897C>A	c.(2896-2898)ACT>AAT	p.T966N	COL11A1_uc001duk.2_Missense_Mutation_p.T150N|COL11A1_uc001dul.2_Missense_Mutation_p.T954N|COL11A1_uc001dun.2_Missense_Mutation_p.T915N|COL11A1_uc009weh.2_Missense_Mutation_p.T838N	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	954	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.307692	44.379175	46.094232	16	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103435776	103435776	3805	1	G	T	T	T	468	36	COL11A1	2	2
TTF2	8458	broad.mit.edu	37	1	117632685	117632685	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117632685G>T	uc001egy.2	+	c.2351G>T	c.(2350-2352)CGT>CTT	p.R784L		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	784	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)										0.156627	52.248236	70.92207	26	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117632685	117632685	17274	1	G	T	T	T	520	40	TTF2	1	1
PIAS3	10401	broad.mit.edu	37	1	145580564	145580564	+	Silent	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145580564A>G	uc001eoc.1	+	c.864A>G	c.(862-864)AAA>AAG	p.K288K	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	288					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.1625	29.028426	37.687617	13	67	KEEP	---	---	---	---	capture		Silent	SNP	145580564	145580564	12301	1	A	G	G	G	24	2	PIAS3	4	4
SV2A	9900	broad.mit.edu	37	1	149882197	149882197	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149882197G>A	uc001etg.2	-	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L	SV2A_uc001eth.2_Silent_p.L338L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	338	Helical; (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.1	3.336416	11.329768	5	45	KEEP	---	---	---	---	capture		Silent	SNP	149882197	149882197	15937	1	G	A	A	A	470	37	SV2A	1	1
CGN	57530	broad.mit.edu	37	1	151508772	151508772	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151508772C>T	uc009wmw.2	+	c.3257C>T	c.(3256-3258)TCC>TTC	p.S1086F	CGN_uc010pde.1_Missense_Mutation_p.S80F	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1080	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.238532	62.190883	69.000078	26	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151508772	151508772	3436	1	C	T	T	T	390	30	CGN	2	2
HRNR	388697	broad.mit.edu	37	1	152188193	152188193	+	Nonsense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152188193G>C	uc001ezt.1	-	c.5912C>G	c.(5911-5913)TCA>TGA	p.S1971*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1971	22.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.023644	-144.453255	36.999947	17	702	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152188193	152188193	7653	1	G	C	C	C	585	45	HRNR	5	3
FLG	2312	broad.mit.edu	37	1	152280088	152280088	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152280088T>A	uc001ezu.1	-	c.7274A>T	c.(7273-7275)GAG>GTG	p.E2425V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2425	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)											0.432377	584.734963	586.680671	211	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152280088	152280088	6160	1	T	A	A	A	702	54	FLG	3	3
UBAP2L	9898	broad.mit.edu	37	1	154241426	154241426	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154241426G>T	uc001fep.3	+	c.3164G>T	c.(3163-3165)GGC>GTC	p.G1055V	UBAP2L_uc010pel.1_Missense_Mutation_p.G1064V|UBAP2L_uc001feq.2_Missense_Mutation_p.G251V|UBAP2L_uc001fer.2_Missense_Mutation_p.G251V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	1055					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.139394	28.216458	48.962836	23	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154241426	154241426	17395	1	G	T	T	T	546	42	UBAP2L	2	2
BCAN	63827	broad.mit.edu	37	1	156617830	156617830	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156617830G>T	uc001fpp.2	+	c.697G>T	c.(697-699)GGG>TGG	p.G233W	BCAN_uc001fpo.2_Missense_Mutation_p.G233W	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	233	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.121693	22.917104	49.450084	23	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156617830	156617830	1366	1	G	T	T	T	507	39	BCAN	1	1
NTRK1	4914	broad.mit.edu	37	1	156837895	156837896	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156837895_156837896GG>TT	uc001fqh.1	+	c.429_splice	c.e5-1	p.L143_splice	NTRK1_uc001fqf.1_Splice_Site_DNP_p.L113_splice|NTRK1_uc009wsi.1_Splice_Site_DNP|NTRK1_uc001fqi.1_Splice_Site_DNP_p.L143_splice|NTRK1_uc009wsk.1_Splice_Site_DNP_p.L143_splice	NM_002529	NP_002520			neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.388889	155.960527	157.51982	56	88	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	156837895	156837896	11111	1	GG	TT	TT	TT	455	35	NTRK1	5	2
ITLN1	55600	broad.mit.edu	37	1	160851995	160851995	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160851995C>A	uc001fxc.2	-	c.158_splice	c.e4-1	p.D53_splice		NM_017625	NP_060095			intelectin precursor						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.147368	20.683052	32.035286	14	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	160851995	160851995	8214	1	C	A	A	A	416	32	ITLN1	5	2
F5	2153	broad.mit.edu	37	1	169511405	169511405	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169511405G>T	uc001ggg.1	-	c.2923C>A	c.(2923-2925)CCC>ACC	p.P975T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	975	B.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.089552	3.292699	48.889945	24	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169511405	169511405	5542	1	G	T	T	T	559	43	F5	2	2
TNR	7143	broad.mit.edu	37	1	175304875	175304875	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175304875G>A	uc001gkp.1	-	c.3603C>T	c.(3601-3603)TTC>TTT	p.F1201F	TNR_uc009wwu.1_Silent_p.F1201F	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1201	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.22807	117.275831	132.753137	52	176	KEEP	---	---	---	---	capture		Silent	SNP	175304875	175304875	16879	1	G	A	A	A	477	37	TNR	1	1
ASTN1	460	broad.mit.edu	37	1	177030287	177030287	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177030287C>T	uc001glc.2	-	c.398G>A	c.(397-399)GGA>GAA	p.G133E	ASTN1_uc001glb.1_Missense_Mutation_p.G133E|ASTN1_uc001gld.1_Missense_Mutation_p.G133E|ASTN1_uc009wwx.1_Missense_Mutation_p.G133E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	133					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.106322	30.603739	84.180425	37	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177030287	177030287	1083	1	C	T	T	T	390	30	ASTN1	2	2
ZNF648	127665	broad.mit.edu	37	1	182026435	182026435	+	Silent	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182026435C>G	uc001goz.2	-	c.711G>C	c.(709-711)GCG>GCC	p.A237A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(71;908 1374 5429 20458 35642)								0.2	7.287401	8.963408	4	16	KEEP	---	---	---	---	capture		Silent	SNP	182026435	182026435	18658	1	C	G	G	G	288	23	ZNF648	3	3
LAMC1	3915	broad.mit.edu	37	1	183091040	183091040	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183091040G>T	uc001gpy.3	+	c.2173G>T	c.(2173-2175)GCC>TCC	p.A725S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	725	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.415385	81.914967	82.320756	27	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183091040	183091040	8937	1	G	T	T	T	494	38	LAMC1	1	1
F13B	2165	broad.mit.edu	37	1	197019870	197019870	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197019870G>A	uc001gtt.1	-	c.1695C>T	c.(1693-1695)GCC>GCT	p.A565A		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	565	Sushi 9.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.166667	31.521024	40.349906	14	70	KEEP	---	---	---	---	capture		Silent	SNP	197019870	197019870	5535	1	G	A	A	A	444	35	F13B	2	2
CACNA1S	779	broad.mit.edu	37	1	201035434	201035434	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201035434T>A	uc001gvv.2	-	c.2668A>T	c.(2668-2670)ATC>TTC	p.I890F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	890	III.|Extracellular (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.226804	54.801955	61.449161	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201035434	201035434	2663	1	T	A	A	A	663	51	CACNA1S	3	3
SLC26A9	115019	broad.mit.edu	37	1	205904837	205904837	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205904837G>A	uc001hdp.2	-	c.112C>T	c.(112-114)CGC>TGC	p.R38C	SLC26A9_uc001hdq.2_Missense_Mutation_p.R38C	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform b	38						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)											0.079646	-6.140876	34.725939	18	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205904837	205904837	15021	1	G	A	A	A	481	37	SLC26A9	1	1
CENPF	1063	broad.mit.edu	37	1	214820057	214820057	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214820057G>A	uc001hkm.2	+	c.7144G>A	c.(7144-7146)GGT>AGT	p.G2382S		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2478	2-2.|Potential.|2 X 177 AA tandem repeats.				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)								0.17284	30.998301	39.187516	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214820057	214820057	3364	1	G	A	A	A	455	35	CENPF	2	2
CNIH3	149111	broad.mit.edu	37	1	224927039	224927039	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:224927039A>T	uc001hos.1	+	c.464A>T	c.(463-465)TAC>TTC	p.Y155F		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	155	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)										0.149533	26.237137	38.836771	16	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	224927039	224927039	3742	1	A	T	T	T	182	14	CNIH3	3	3
NUP133	55746	broad.mit.edu	37	1	229636555	229636555	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229636555T>C	uc001htn.2	-	c.461A>G	c.(460-462)GAC>GGC	p.D154G		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	154					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.177778	21.975745	26.371983	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229636555	229636555	11159	1	T	C	C	C	754	58	NUP133	4	4
LUZP1	7798	broad.mit.edu	37	1	23417946	23417946	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23417946G>C	uc001bgk.2	-	c.2809C>G	c.(2809-2811)CCA>GCA	p.P937A	LUZP1_uc010odv.1_Missense_Mutation_p.P937A|LUZP1_uc001bgl.2_Missense_Mutation_p.P937A|LUZP1_uc001bgm.1_Missense_Mutation_p.P937A	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)										0.091398	11.845064	43.122463	17	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23417946	23417946	9462	1	G	C	C	C	559	43	LUZP1	3	3
HNRNPR	10236	broad.mit.edu	37	1	23667394	23667394	+	Silent	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23667394T>A	uc001bgp.3	-	c.108A>T	c.(106-108)GCA>GCT	p.A36A	HNRNPR_uc001bgr.3_Silent_p.A36A|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Silent_p.A36A|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron	NM_001102398	NP_001095868	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	36	Asp/Glu-rich (acidic).				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)										0.320388	179.471139	185.378597	66	140	KEEP	---	---	---	---	capture		Silent	SNP	23667394	23667394	7564	1	T	A	A	A	704	55	HNRNPR	3	3
OR6F1	343169	broad.mit.edu	37	1	247876019	247876019	+	Silent	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247876019G>T	uc001idj.1	-	c.39C>A	c.(37-39)CTC>CTA	p.L13L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	13	Extracellular (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;0.0168)											0.182222	72.417154	93.78895	41	184	KEEP	---	---	---	---	capture		Silent	SNP	247876019	247876019	11611	1	G	T	T	T	418	33	OR6F1	2	2
OR2M3	127062	broad.mit.edu	37	1	248366604	248366604	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248366604C>A	uc010pzg.1	+	c.235C>A	c.(235-237)CCC>ACC	p.P79T		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.326264	553.545055	569.982446	200	413	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248366604	248366604	11417	1	C	A	A	A	234	18	OR2M3	2	2
OR2T33	391195	broad.mit.edu	37	1	248436623	248436623	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436623G>T	uc010pzi.1	-	c.494C>A	c.(493-495)CCA>CAA	p.P165Q		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.103093	4.870352	20.108788	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248436623	248436623	11430	1	G	T	T	T	611	47	OR2T33	2	2
OR2T12	127064	broad.mit.edu	37	1	248458171	248458171	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458171G>T	uc010pzj.1	-	c.710C>A	c.(709-711)GCC>GAC	p.A237D		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.281553	73.628275	78.047295	29	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248458171	248458171	11425	1	G	T	T	T	546	42	OR2T12	2	2
OR2T4	127074	broad.mit.edu	37	1	248525194	248525194	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525194G>A	uc001ieh.1	+	c.312G>A	c.(310-312)GCG>GCA	p.A104A		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	104	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.289803	405.064141	427.1784	162	397	KEEP	---	---	---	---	capture		Silent	SNP	248525194	248525194	11433	1	G	A	A	A	509	40	OR2T4	1	1
OR14I1	401994	broad.mit.edu	37	1	248844837	248844837	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248844837C>A	uc001ieu.1	-	c.769G>T	c.(769-771)GCC>TCC	p.A257S		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.245614	102.68228	112.748648	42	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248844837	248844837	11353	1	C	A	A	A	325	25	OR14I1	2	2
C1orf63	57035	broad.mit.edu	37	1	25573174	25573174	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25573174C>A	uc001bjw.2	-	c.281G>T	c.(280-282)CGA>CTA	p.R94L		NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	hypothetical protein LOC57035	94	Arg-rich.									pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)										0.166667	8.755664	11.91738	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25573174	25573174	2127	1	C	A	A	A	403	31	C1orf63	1	1
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27212601C>A	uc001bnd.1	-	c.592G>T	c.(592-594)GAG>TAG	p.E198*		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	198							GTP binding				0														0.205882	28.206984	33.666476	14	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27212601	27212601	6892	1	C	A	A	A	416	32	GPN2	5	2
MRPL37	51253	broad.mit.edu	37	1	54665932	54665932	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:54665932G>C	uc001cxb.1	+	c.16G>C	c.(16-18)GGG>CGG	p.G6R	CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc001cxa.3_Missense_Mutation_p.G6R|MRPL37_uc009vzp.2_5'UTR|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_Non-coding_Transcript	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	6					translation	mitochondrial ribosome	structural constituent of ribosome				0														0.132075	29.316763	50.198245	21	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54665932	54665932	10193	1	G	C	C	C	507	39	MRPL37	3	3
DNAJB4	11080	broad.mit.edu	37	1	78479142	78479142	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78479142G>C	uc001dij.2	+	c.619G>C	c.(619-621)GGG>CGG	p.G207R	DNAJB4_uc010orn.1_Missense_Mutation_p.G92R	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	207					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0														0.2	47.38565	56.59718	22	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78479142	78479142	4805	1	G	C	C	C	455	35	DNAJB4	3	3
C20orf46	55321	broad.mit.edu	37	20	1162053	1162053	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1162053C>T	uc010gaa.1	-	c.210G>A	c.(208-210)GAG>GAA	p.E70E	C20orf46_uc002weq.1_Silent_p.E70E	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	70						integral to membrane	protein binding			ovary(1)	1														0.118421	10.523738	21.392855	9	67	KEEP	---	---	---	---	capture		Silent	SNP	1162053	1162053	2193	20	C	T	T	T	415	32	C20orf46	2	2
DSN1	79980	broad.mit.edu	37	20	35386512	35386512	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35386512C>A	uc010gfr.2	-	c.703G>T	c.(703-705)GAG>TAG	p.E235*	DSN1_uc002xfz.2_Nonsense_Mutation_p.E235*|DSN1_uc002xfy.3_Nonsense_Mutation_p.E25*|DSN1_uc002xga.2_Nonsense_Mutation_p.E235*|DSN1_uc010zvs.1_Nonsense_Mutation_p.E128*|DSN1_uc002xgc.2_Nonsense_Mutation_p.E219*|DSN1_uc002xgb.2_Nonsense_Mutation_p.E219*	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN	DSN1, MIND kinetochore complex component,	235					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)												0.2	16.846554	20.617073	9	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35386512	35386512	4964	20	C	A	A	A	390	30	DSN1	5	2
PTPRT	11122	broad.mit.edu	37	20	41385102	41385102	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:41385102C>T	uc010ggj.2	-	c.859G>A	c.(859-861)GAG>AAG	p.E287K	PTPRT_uc002xkg.2_Missense_Mutation_p.E287K	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287	Extracellular (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.4	45.587377	45.938447	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41385102	41385102	13270	20	C	T	T	T	312	24	PTPRT	2	2
BCAS1	8537	broad.mit.edu	37	20	52570044	52570044	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52570044A>T	uc002xws.2	-	c.1607T>A	c.(1606-1608)CTG>CAG	p.L536Q	BCAS1_uc010zza.1_Missense_Mutation_p.L202Q|BCAS1_uc010zzb.1_Missense_Mutation_p.L462Q|BCAS1_uc010gim.2_Missense_Mutation_p.L392Q|BCAS1_uc002xwt.2_Missense_Mutation_p.L522Q|BCAS1_uc010gil.1_Missense_Mutation_p.L458Q	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	536						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.271739	136.875599	145.514981	50	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52570044	52570044	1371	20	A	T	T	T	91	7	BCAS1	3	3
BMP7	655	broad.mit.edu	37	20	55803316	55803316	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55803316C>A	uc010gip.1	-	c.580G>T	c.(580-582)GTT>TTT	p.V194F	BMP7_uc010giq.1_Missense_Mutation_p.V194F|BMP7_uc002xyc.2_Missense_Mutation_p.V194F	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	194					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)											0.241379	164.7374	180.634334	63	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55803316	55803316	1490	20	C	A	A	A	247	19	BMP7	1	1
CHGB	1114	broad.mit.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5903619C>T	uc002wmg.2	+	c.829C>T	c.(829-831)CGA>TGA	p.R277*	CHGB_uc010zqz.1_De_novo_Start_OutOfFrame	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	277						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.12	3.608134	7.149045	3	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5903619	5903619	3473	20	C	T	T	T	243	19	CHGB	5	1
KCNQ2	3785	broad.mit.edu	37	20	62076647	62076647	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62076647C>A	uc002yey.1	-	c.458G>T	c.(457-459)CGG>CTG	p.R153L	KCNQ2_uc002yez.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfa.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfb.1_Missense_Mutation_p.R153L|KCNQ2_uc011aax.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfc.1_Missense_Mutation_p.R153L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	153	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)									0.333333	21.693046	22.282938	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62076647	62076647	8388	20	C	A	A	A	299	23	KCNQ2	1	1
DIP2A	23181	broad.mit.edu	37	21	47904726	47904726	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47904726A>C	uc002zjo.2	+	c.148A>C	c.(148-150)ATA>CTA	p.I50L	DIP2A_uc011afy.1_Intron|DIP2A_uc011afz.1_Missense_Mutation_p.I50L|DIP2A_uc002zjl.2_Missense_Mutation_p.I50L|DIP2A_uc002zjm.2_Missense_Mutation_p.I50L|DIP2A_uc010gql.2_Missense_Mutation_p.I50L|DIP2A_uc002zjn.2_Missense_Mutation_p.I50L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	50					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)										0.272727	9.820887	10.332472	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47904726	47904726	4706	21	A	C	C	C	208	16	DIP2A	4	4
RFPL2	10739	broad.mit.edu	37	22	32587072	32587072	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32587072C>A	uc003amg.3	-	c.824G>T	c.(823-825)GGA>GTA	p.G275V	RFPL2_uc003ame.3_Missense_Mutation_p.G214V|RFPL2_uc003amf.3_Missense_Mutation_p.G185V|RFPL2_uc003amh.3_Missense_Mutation_p.G185V	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	275	B30.2/SPRY.						zinc ion binding				0														0.21875	41.216375	48.222548	21	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32587072	32587072	13725	22	C	A	A	A	390	30	RFPL2	2	2
C22orf33	339669	broad.mit.edu	37	22	37387601	37387601	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37387601C>A	uc003aqf.2	-	c.666G>T	c.(664-666)AAG>AAT	p.K222N	C22orf33_uc003aqe.2_Missense_Mutation_p.K137N	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	222											0														0.131707	33.176139	60.210753	27	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37387601	37387601	2226	22	C	A	A	A	311	24	C22orf33	2	2
NCAPH2	29781	broad.mit.edu	37	22	50960275	50960275	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50960275C>T	uc003blx.3	+	c.1106C>T	c.(1105-1107)GCC>GTC	p.A369V	NCAPH2_uc003blv.2_Missense_Mutation_p.A369V|NCAPH2_uc003blr.3_Missense_Mutation_p.A369V|NCAPH2_uc010hbb.2_Missense_Mutation_p.A220V|NCAPH2_uc003blu.3_Non-coding_Transcript|NCAPH2_uc003bls.3_Non-coding_Transcript|NCAPH2_uc003blt.3_Non-coding_Transcript|NCAPH2_uc003blw.3_Non-coding_Transcript|NCAPH2_uc003bly.3_Non-coding_Transcript	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	369					chromosome condensation	chromosome|nucleus				ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)										0.193548	24.361535	29.798232	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50960275	50960275	10609	22	C	T	T	T	338	26	NCAPH2	2	2
GCC2	9648	broad.mit.edu	37	2	109086113	109086113	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109086113G>T	uc002tec.2	+	c.328G>T	c.(328-330)GTA>TTA	p.V110L	GCC2_uc002ted.2_Missense_Mutation_p.V9L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	110	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1														0.148148	20.745295	30.372582	12	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109086113	109086113	6552	2	G	T	T	T	624	48	GCC2	2	2
TUBA3D	113457	broad.mit.edu	37	2	132237849	132237849	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132237849C>A	uc002tsu.3	+	c.583C>A	c.(583-585)CTG>ATG	p.L195M		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	195					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		Ovarian(137;2059 2432 35543 39401)								0.069231	-14.673151	35.202365	18	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132237849	132237849	17302	2	C	A	A	A	311	24	TUBA3D	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541998	133541998	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541998G>C	uc002ttp.2	-	c.2386C>G	c.(2386-2388)CAA>GAA	p.Q796E	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	796							protein binding				0														0.177474	141.014828	169.720055	52	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133541998	133541998	10622	2	G	C	C	C	585	45	NCKAP5	3	3
THSD7B	80731	broad.mit.edu	37	2	138163266	138163266	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138163266C>A	uc002tva.1	+	c.2491C>A	c.(2491-2493)CAA>AAA	p.Q831K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q721K	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.189655	22.48799	27.715521	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138163266	138163266	16408	2	C	A	A	A	325	25	THSD7B	2	2
SPOPL	339745	broad.mit.edu	37	2	139322555	139322555	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139322555G>T	uc002tvh.2	+	c.1026G>T	c.(1024-1026)TGG>TGT	p.W342C		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	342						nucleus				breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0296)										0.204545	35.493314	42.629281	18	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139322555	139322555	15598	2	G	T	T	T	533	41	SPOPL	2	2
CYTIP	9595	broad.mit.edu	37	2	158272582	158272582	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158272582C>A	uc002tzj.1	-	c.687G>T	c.(685-687)GGG>GGT	p.G229G	CYTIP_uc010zcl.1_Silent_p.G123G	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	229					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)	2														0.235955	46.49641	52.126398	21	68	KEEP	---	---	---	---	capture		Silent	SNP	158272582	158272582	4372	2	C	A	A	A	327	26	CYTIP	2	2
DPP4	1803	broad.mit.edu	37	2	162902123	162902123	+	Splice_Site_SNP	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162902123C>T	uc002ubz.2	-	c.286_splice	c.e5-1	p.D96_splice	DPP4_uc010fpb.2_Splice_Site_SNP|DPP4_uc002uca.1_Splice_Site_SNP|DPP4_uc002ucb.1_Splice_Site_SNP	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.148148	15.988348	22.385125	8	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	162902123	162902123	4913	2	C	T	T	T	312	24	DPP4	5	2
XIRP2	129446	broad.mit.edu	37	2	168100444	168100444	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100444C>A	uc002udx.2	+	c.2542C>A	c.(2542-2544)CAG>AAG	p.Q848K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q673K|XIRP2_uc010fpq.2_Missense_Mutation_p.Q626K|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	673	Xin 9.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.277778	114.008438	121.205349	45	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168100444	168100444	18011	2	C	A	A	A	273	21	XIRP2	2	2
SMC6	79677	broad.mit.edu	37	2	17896178	17896178	+	Silent	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17896178T>A	uc002rco.2	-	c.1680A>T	c.(1678-1680)CCA>CCT	p.P560P	SMC6_uc010exo.2_Silent_p.P560P|SMC6_uc002rcn.2_Silent_p.P560P|SMC6_uc002rcp.1_Silent_p.P586P|SMC6_uc002rcq.2_Silent_p.P586P	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	560	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|kidney(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.311377	143.848872	149.134459	52	115	KEEP	---	---	---	---	capture		Silent	SNP	17896178	17896178	15285	2	T	A	A	A	756	59	SMC6	3	3
WDR12	55759	broad.mit.edu	37	2	203764280	203764280	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203764280G>A	uc002uzl.2	-	c.312C>T	c.(310-312)ATC>ATT	p.I104I	WDR12_uc010ftt.2_Silent_p.I104I	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	104	Sufficient for nucleolar localization.|WD 1.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0														0.044444	-20.07481	9.920896	6	129	KEEP	---	---	---	---	capture		Silent	SNP	203764280	203764280	17847	2	G	A	A	A	577	45	WDR12	2	2
SPHKAP	80309	broad.mit.edu	37	2	228882302	228882302	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882302C>A	uc002vpq.2	-	c.3268G>T	c.(3268-3270)GAC>TAC	p.D1090Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1090Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1090Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1090						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.212766	19.719279	23.308173	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228882302	228882302	15560	2	C	A	A	A	416	32	SPHKAP	2	2
PLB1	151056	broad.mit.edu	37	2	28761222	28761222	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28761222G>T	uc002rmb.1	+	c.592G>T	c.(592-594)GGG>TGG	p.G198W	PLB1_uc010ezj.1_Missense_Mutation_p.G209W	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	198	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.118644	7.202649	15.614734	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28761222	28761222	12450	2	G	T	T	T	559	43	PLB1	2	2
COLEC11	78989	broad.mit.edu	37	2	3685151	3685151	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3685151C>A	uc002qya.2	+	c.231C>A	c.(229-231)GGC>GGA	p.G77G	COLEC11_uc002qxz.2_Silent_p.G74G|COLEC11_uc002qyb.2_Silent_p.G53G|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Silent_p.G51G|COLEC11_uc010ewq.2_Silent_p.G27G|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	77	Collagen-like.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)										0.11828	12.753806	26.072279	11	82	KEEP	---	---	---	---	capture		Silent	SNP	3685151	3685151	3849	2	C	A	A	A	314	25	COLEC11	2	2
NRXN1	9378	broad.mit.edu	37	2	50149296	50149296	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50149296A>G	uc010fbq.2	-	c.4430T>C	c.(4429-4431)ATA>ACA	p.I1477T	NRXN1_uc010fbp.2_Missense_Mutation_p.I372T|NRXN1_uc002rxb.3_Missense_Mutation_p.I1106T|NRXN1_uc002rxe.3_Missense_Mutation_p.I1407T|NRXN1_uc010yon.1_Missense_Mutation_p.I72T|NRXN1_uc002rxa.3_Missense_Mutation_p.I69T	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	372	Helical; (Potential).				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.121622	14.429137	24.801808	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50149296	50149296	11070	2	A	G	G	G	208	16	NRXN1	4	4
REG3A	5068	broad.mit.edu	37	2	79384741	79384741	+	Silent	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79384741G>C	uc002sod.1	-	c.417C>G	c.(415-417)ACC>ACG	p.T139T	REG3A_uc002soe.1_Silent_p.T139T|REG3A_uc002sof.1_Silent_p.T139T	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	139	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.335821	126.326506	129.52564	45	89	KEEP	---	---	---	---	capture		Silent	SNP	79384741	79384741	13681	2	G	C	C	C	600	47	REG3A	3	3
FAHD2A	51011	broad.mit.edu	37	2	96078209	96078209	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96078209G>T	uc002sur.2	+	c.713G>T	c.(712-714)CGA>CTA	p.R238L	FAHD2A_uc002sus.2_Missense_Mutation_p.R238L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	238							hydrolase activity|metal ion binding			ovary(1)	1														0.234375	74.68607	82.94833	30	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96078209	96078209	5570	2	G	T	T	T	481	37	FAHD2A	1	1
C3orf15	89876	broad.mit.edu	37	3	119445030	119445030	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119445030C>T	uc003ede.3	+	c.695C>T	c.(694-696)CCA>CTA	p.P232L	C3orf15_uc010hqy.1_Missense_Mutation_p.P232L|C3orf15_uc010hqz.2_Missense_Mutation_p.P170L|C3orf15_uc011bjd.1_Missense_Mutation_p.P106L|C3orf15_uc011bje.1_Missense_Mutation_p.P212L|C3orf15_uc010hra.1_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	232						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)										0.5	59.99619	59.99619	20	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119445030	119445030	2301	3	C	T	T	T	273	21	C3orf15	2	2
COPG	22820	broad.mit.edu	37	3	128971533	128971533	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128971533A>G	uc003els.2	+	c.239A>G	c.(238-240)AAT>AGT	p.N80S	COPG_uc010htb.2_5'UTR	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	80	HEAT 1.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4														0.443478	175.31145	175.629978	51	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128971533	128971533	3869	3	A	G	G	G	52	4	COPG	4	4
MED12L	116931	broad.mit.edu	37	3	151085496	151085496	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151085496G>T	uc003eyp.2	+	c.3285G>T	c.(3283-3285)CAG>CAT	p.Q1095H	MED12L_uc011bnz.1_Missense_Mutation_p.Q955H|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.Q258H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1095					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.378378	200.895632	203.300218	70	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151085496	151085496	9818	3	G	T	T	T	464	36	MED12L	2	2
CNTN4	152330	broad.mit.edu	37	3	3078942	3078942	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3078942A>T	uc003bpc.2	+	c.2022A>T	c.(2020-2022)ACA>ACT	p.T674T	CNTN4_uc003bpb.1_Silent_p.T345T|CNTN4_uc003bpd.1_Silent_p.T674T|CNTN4_uc003bpe.2_Silent_p.T346T|CNTN4_uc003bpf.2_Silent_p.T345T|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	674	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.35	390.718413	398.684699	140	260	KEEP	---	---	---	---	capture		Silent	SNP	3078942	3078942	3781	3	A	T	T	T	80	7	CNTN4	3	3
POU1F1	5449	broad.mit.edu	37	3	87309058	87309058	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87309058G>T	uc010hoj.1	-	c.940C>A	c.(940-942)CTT>ATT	p.L314I	POU1F1_uc003dqq.1_Missense_Mutation_p.L288I	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	288					negative regulation of cell proliferation|positive regulation of gene-specific transcription|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)										0.247525	57.013988	62.882841	25	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87309058	87309058	12699	3	G	T	T	T	429	33	POU1F1	2	2
EPHA6	285220	broad.mit.edu	37	3	97454809	97454809	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97454809C>T	uc010how.1	+	c.2975C>T	c.(2974-2976)CCC>CTC	p.P992L	EPHA6_uc003drt.2_Missense_Mutation_p.P384L|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	897	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.405405	89.631071	90.211051	30	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97454809	97454809	5364	3	C	T	T	T	286	22	EPHA6	2	2
ADH1B	125	broad.mit.edu	37	4	100239267	100239267	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100239267A>T	uc003hus.3	-	c.195T>A	c.(193-195)ATT>ATA	p.I65I	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.I25I|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Silent_p.I25I	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	65					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.182266	58.116805	77.437438	37	166	KEEP	---	---	---	---	capture		Silent	SNP	100239267	100239267	309	4	A	T	T	T	8	1	ADH1B	3	3
ANP32C	23520	broad.mit.edu	37	4	165118386	165118386	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118386C>G	uc011cjk.1	-	c.478G>C	c.(478-480)GTG>CTG	p.V160L	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	160	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.217949	51.032688	56.75137	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165118386	165118386	715	4	C	G	G	G	247	19	ANP32C	3	3
WWC2	80014	broad.mit.edu	37	4	184205516	184205516	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:184205516A>T	uc010irx.2	+	c.3021A>T	c.(3019-3021)CCA>CCT	p.P1007P	WWC2_uc003ivk.3_Silent_p.P802P|WWC2_uc003ivl.3_Non-coding_Transcript|WWC2_uc010iry.2_Silent_p.P689P|WWC2_uc003ivn.3_Silent_p.P522P|WWC2_uc010irz.2_Silent_p.P348P|WWC2_uc003ivo.3_Silent_p.P135P	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1007										ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)										0.127119	21.643683	37.644289	15	103	KEEP	---	---	---	---	capture		Silent	SNP	184205516	184205516	17986	4	A	T	T	T	80	7	WWC2	3	3
F11	2160	broad.mit.edu	37	4	187208902	187208902	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187208902G>C	uc003iza.1	+	c.1641G>C	c.(1639-1641)AAG>AAC	p.K547N		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	547	Peptidase S1.|Heparin-binding.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)									0.112	22.052625	40.644858	14	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187208902	187208902	5531	4	G	C	C	C	425	33	F11	3	3
ZFP42	132625	broad.mit.edu	37	4	188924086	188924086	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:188924086C>A	uc003izg.1	+	c.125C>A	c.(124-126)CCT>CAT	p.P42H	ZFP42_uc003izh.1_Missense_Mutation_p.P42H|ZFP42_uc003izi.1_Missense_Mutation_p.P42H	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	42					female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)										0.157143	16.073613	23.933379	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188924086	188924086	18238	4	C	A	A	A	312	24	ZFP42	2	2
PCDH7	5099	broad.mit.edu	37	4	30723875	30723875	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30723875C>A	uc011bxx.1	+	c.831C>A	c.(829-831)ACC>ACA	p.T277T	PCDH7_uc011bxw.1_Intron|PCDH7_uc003gsk.1_Silent_p.T277T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	277	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.571429	11.600024	11.631053	4	3	KEEP	---	---	---	---	capture		Silent	SNP	30723875	30723875	11936	4	C	A	A	A	275	22	PCDH7	2	2
APBB2	323	broad.mit.edu	37	4	40946967	40946967	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40946967C>A	uc003gvn.2	-	c.959G>T	c.(958-960)CGG>CTG	p.R320L	APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.R319L|APBB2_uc003gvl.2_Missense_Mutation_p.R319L|APBB2_uc011byt.1_Missense_Mutation_p.R302L	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						Ovarian(3;20 75 16686 49997)								0.226891	63.162609	71.311382	27	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40946967	40946967	771	4	C	A	A	A	299	23	APBB2	1	1
RASGEF1B	153020	broad.mit.edu	37	4	82369318	82369318	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:82369318C>G	uc003hmi.1	-	c.559G>C	c.(559-561)GTT>CTT	p.V187L	RASGEF1B_uc003hmj.1_Missense_Mutation_p.V186L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V145L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	187					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.141304	48.349226	71.172403	26	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82369318	82369318	13531	4	C	G	G	G	260	20	RASGEF1B	3	3
APC	324	broad.mit.edu	37	5	112175531	112175531	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112175531G>A	uc010jby.2	+	c.4240G>A	c.(4240-4242)GTA>ATA	p.V1414I	APC_uc011cvt.1_Missense_Mutation_p.V1396I|APC_uc003kpz.3_Missense_Mutation_p.V1414I|APC_uc003kpy.3_Missense_Mutation_p.V1414I|APC_uc010jbz.2_Missense_Mutation_p.V1131I|APC_uc010jca.2_Missense_Mutation_p.V714I	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1414	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.V1414fs*9(6)|p.V1414fs*1(4)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414I(1)|p.V1414fs*3(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.311828	74.215341	77.162805	29	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112175531	112175531	773	5	G	A	A	A	572	44	APC	2	2
PCDHA5	56143	broad.mit.edu	37	5	140203040	140203040	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140203040C>A	uc003lhl.2	+	c.1680C>A	c.(1678-1680)AAC>AAA	p.N560K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.N560K|PCDHA5_uc003lhj.1_Missense_Mutation_p.N560K	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.335664	132.641676	136.065781	48	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140203040	140203040	11947	5	C	A	A	A	246	19	PCDHA5	1	1
PCDHA13	56136	broad.mit.edu	37	5	140263146	140263146	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263146C>A	uc003lif.2	+	c.1293C>A	c.(1291-1293)GGC>GGA	p.G431G	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_Silent_p.G431G|PCDHA13_uc003lid.2_Silent_p.G431G	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	431	Cadherin 4.|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)								0.214286	54.316702	64.8701	30	110	KEEP	---	---	---	---	capture		Silent	SNP	140263146	140263146	11943	5	C	A	A	A	353	28	PCDHA13	2	2
PCDHB1	29930	broad.mit.edu	37	5	140433455	140433455	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140433455T>A	uc003lik.1	+	c.2400T>A	c.(2398-2400)GAT>GAA	p.D800E		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	800	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.25641	103.445042	111.826245	40	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140433455	140433455	11954	5	T	A	A	A	634	49	PCDHB1	3	3
PCDHGA7	56108	broad.mit.edu	37	5	140763083	140763083	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140763083G>T	uc003lka.1	+	c.617G>T	c.(616-618)CGG>CTG	p.R206L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R206L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	206	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.205882	15.407633	18.133867	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140763083	140763083	11979	5	G	T	T	T	507	39	PCDHGA7	1	1
TRIO	7204	broad.mit.edu	37	5	14331009	14331010	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14331009_14331010GG>TT	uc003jff.2	+	c.1854_splice	c.e10+1	p.Q618_splice	TRIO_uc003jfg.2_Splice_Site_DNP|TRIO_uc011cna.1_Splice_Site_DNP_p.Q569_splice|TRIO_uc003jfh.1_Splice_Site_DNP_p.Q267_splice	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.205882	118.433992	137.529387	49	189	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	14331009	14331010	17102	5	GG	TT	TT	TT	451	35	TRIO	5	2
SH3TC2	79628	broad.mit.edu	37	5	148386452	148386452	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148386452G>T	uc003lpu.2	-	c.3667C>A	c.(3667-3669)CAG>AAG	p.Q1223K	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.Q867K|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Missense_Mutation_p.Q770K|SH3TC2_uc010jgx.2_Missense_Mutation_p.Q1216K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1223	TPR 8.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.28655	121.057605	128.082167	49	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148386452	148386452	14754	5	G	T	T	T	611	47	SH3TC2	2	2
PDE6A	5145	broad.mit.edu	37	5	149264140	149264140	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149264140G>T	uc003lrg.3	-	c.1929C>A	c.(1927-1929)AGC>AGA	p.S643R		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	643					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.22093	44.375788	50.543401	19	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149264140	149264140	12066	5	G	T	T	T	542	42	PDE6A	2	2
KIF4B	285643	broad.mit.edu	37	5	154394443	154394443	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154394443G>C	uc010jih.1	+	c.1024G>C	c.(1024-1026)GTT>CTT	p.V342L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	342	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.256881	266.642603	284.165424	84	243	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154394443	154394443	8615	5	G	C	C	C	624	48	KIF4B	3	3
TIMD4	91937	broad.mit.edu	37	5	156378554	156378554	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156378554C>T	uc003lwh.2	-	c.648G>A	c.(646-648)GAG>GAA	p.E216E	TIMD4_uc010jii.2_Silent_p.E216E	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	216	Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.222222	59.097157	67.396603	26	91	KEEP	---	---	---	---	capture		Silent	SNP	156378554	156378554	16432	5	C	T	T	T	363	28	TIMD4	2	2
ADAM19	8728	broad.mit.edu	37	5	156932741	156932741	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156932741C>A	uc003lwz.2	-	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	ADAM19_uc003lww.1_Missense_Mutation_p.D89Y|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.D287Y	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	356	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.46875	38.704776	38.733184	15	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156932741	156932741	241	5	C	A	A	A	377	29	ADAM19	2	2
UNC5A	90249	broad.mit.edu	37	5	176295144	176295144	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176295144G>T	uc003mey.2	+	c.306G>T	c.(304-306)ATG>ATT	p.M102I	UNC5A_uc003mex.1_Missense_Mutation_p.M102I|UNC5A_uc010jkg.1_Missense_Mutation_p.M62I	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	102	Ig-like.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane					0	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.257143	108.784342	118.147349	45	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176295144	176295144	17549	5	G	T	T	T	611	47	UNC5A	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178581831	178581832	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178581831_178581832GG>TT	uc003mjw.2	-	c.1221_1222CC>AA	c.(1219-1224)GCCCAT>GCAAAT	p.H408N	ADAMTS2_uc011dgm.1_Missense_Mutation_p.H408N	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	408	Peptidase M12B.	Zinc; catalytic (By similarity).			collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.357143	13.369972	13.622105	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	178581831	178581832	266	5	GG	TT	TT	TT	611	47	ADAMTS2	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33561189	33561189	+	Silent	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33561189A>T	uc003jia.1	-	c.4068T>A	c.(4066-4068)CCT>CCA	p.P1356P	ADAMTS12_uc010iuq.1_Silent_p.P1271P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1356	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.214286	87.923745	101.646504	39	143	KEEP	---	---	---	---	capture		Silent	SNP	33561189	33561189	258	5	A	T	T	T	80	7	ADAMTS12	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33576896	33576896	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33576896G>C	uc003jia.1	-	c.3235C>G	c.(3235-3237)CGC>GGC	p.R1079G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R994G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1079	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.209091	61.395113	70.110782	23	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33576896	33576896	258	5	G	C	C	C	481	37	ADAMTS12	3	3
NUP155	9631	broad.mit.edu	37	5	37370996	37370996	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37370996C>A	uc003jku.1	-	c.84G>T	c.(82-84)CGG>CGT	p.R28R	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Silent_p.R28R	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	28					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.210227	72.749014	86.461653	37	139	KEEP	---	---	---	---	capture		Silent	SNP	37370996	37370996	11161	5	C	A	A	A	327	26	NUP155	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5239824G>T	uc003jdl.2	+	c.2309G>T	c.(2308-2310)GGA>GTA	p.G770V	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G770V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.280822	184.413685	197.038918	82	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5239824	5239824	262	5	G	T	T	T	533	41	ADAMTS16	2	2
EPB41L2	2037	broad.mit.edu	37	6	131190797	131190797	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131190797A>T	uc003qch.2	-	c.2513T>A	c.(2512-2514)ATG>AAG	p.M838K	EPB41L2_uc003qce.1_Missense_Mutation_p.M216K|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.M235K	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	838					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)										0.267176	170.956824	183.768996	70	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131190797	131190797	5346	6	A	T	T	T	104	8	EPB41L2	3	3
HECA	51696	broad.mit.edu	37	6	139498167	139498167	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139498167G>T	uc003qin.2	+	c.1557G>T	c.(1555-1557)CAG>CAT	p.Q519H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	519					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)										0.06383	-2.910082	6.389735	3	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139498167	139498167	7321	6	G	T	T	T	464	36	HECA	2	2
TXLNB	167838	broad.mit.edu	37	6	139609688	139609688	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139609688C>A	uc011eds.1	-	c.349G>T	c.(349-351)GGA>TGA	p.G117*		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	117						cytoplasm				large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)										0.272189	105.673321	113.666098	46	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	139609688	139609688	17344	6	C	A	A	A	273	21	TXLNB	5	2
SMOC2	64094	broad.mit.edu	37	6	169008863	169008863	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169008863C>A	uc003qwr.1	+	c.884C>A	c.(883-885)ACG>AAG	p.T295K	SMOC2_uc003qws.1_Missense_Mutation_p.T284K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	284					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)										0.26087	15.640863	16.830427	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169008863	169008863	15302	6	C	A	A	A	247	19	SMOC2	1	1
PGBD1	84547	broad.mit.edu	37	6	28254889	28254889	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28254889G>C	uc003nky.2	+	c.586G>C	c.(586-588)GAA>CAA	p.E196Q	PGBD1_uc003nkz.2_Missense_Mutation_p.E196Q	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					regulation of transcription, DNA-dependent|viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4														0.327869	66.68005	68.282284	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28254889	28254889	12203	6	G	C	C	C	533	41	PGBD1	3	3
RNF8	9025	broad.mit.edu	37	6	37336424	37336424	+	Silent	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:37336424T>C	uc003onq.3	+	c.405T>C	c.(403-405)TGT>TGC	p.C135C	RNF8_uc003onr.3_Silent_p.C135C|RNF8_uc011dtx.1_Silent_p.C67C	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	135					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.115385	25.943019	44.870047	15	115	KEEP	---	---	---	---	capture		Silent	SNP	37336424	37336424	13979	6	T	C	C	C	751	58	RNF8	4	4
TTBK1	84630	broad.mit.edu	37	6	43251119	43251119	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43251119G>T	uc003ouq.1	+	c.2641G>T	c.(2641-2643)GTA>TTA	p.V881L		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	881					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				0.176471	5.619936	7.293396	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43251119	43251119	17230	6	G	T	T	T	520	40	TTBK1	1	1
GPR115	221393	broad.mit.edu	37	6	47675979	47675979	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47675979G>T	uc003oyz.1	+	c.284G>T	c.(283-285)AGC>ATC	p.S95I	GPR115_uc003oza.1_Missense_Mutation_p.S38I|GPR115_uc003ozb.1_Missense_Mutation_p.S36I	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	38	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|breast(1)	4						GBM(22;431 510 9010 26644 32828)								0.368421	59.257233	60.125815	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47675979	47675979	6906	6	G	T	T	T	442	34	GPR115	2	2
GCM1	8521	broad.mit.edu	37	6	52998877	52998877	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52998877C>G	uc003pbp.2	-	c.321G>C	c.(319-321)AAG>AAC	p.K107N	GCM1_uc010jzr.2_Missense_Mutation_p.K107N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	107	GCM.				regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.333333	44.334922	45.368687	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52998877	52998877	6563	6	C	G	G	G	363	28	GCM1	3	3
GFRAL	389400	broad.mit.edu	37	6	55223906	55223906	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55223906C>A	uc003pcm.1	+	c.922C>A	c.(922-924)CAG>AAG	p.Q308K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	308	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.070588	-3.122828	13.048593	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55223906	55223906	6619	6	C	A	A	A	273	21	GFRAL	2	2
COL21A1	81578	broad.mit.edu	37	6	56035464	56035464	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56035464C>A	uc003pcs.2	-	c.1009G>T	c.(1009-1011)GCT>TCT	p.A337S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.A337S|COL21A1_uc003pcu.1_Missense_Mutation_p.A337S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	337	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.214286	6.130919	7.177389	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56035464	56035464	3818	6	C	A	A	A	325	25	COL21A1	2	2
DST	667	broad.mit.edu	37	6	56417220	56417220	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56417220G>A	uc003pdf.2	-	c.10013C>T	c.(10012-10014)CCT>CTT	p.P3338L	DST_uc003pcz.3_Missense_Mutation_p.P3160L|DST_uc011dxj.1_Missense_Mutation_p.P3189L|DST_uc011dxk.1_Missense_Mutation_p.P3200L|DST_uc003pcy.3_Missense_Mutation_p.P2834L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5246					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				0.156627	26.226328	35.561932	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56417220	56417220	4967	6	G	A	A	A	455	35	DST	2	2
LY86	9450	broad.mit.edu	37	6	6625237	6625237	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6625237T>C	uc003mwy.1	+	c.215T>C	c.(214-216)ATT>ACT	p.I72T	LOC285780_uc003mww.3_5'Flank|LOC285780_uc003mwx.2_5'Flank	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	72					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)													0.222222	12.39094	13.667968	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6625237	6625237	9477	6	T	C	C	C	676	52	LY86	4	4
BAI3	577	broad.mit.edu	37	6	69349144	69349144	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69349144T>A	uc003pev.3	+	c.577T>A	c.(577-579)TAT>AAT	p.Y193N	BAI3_uc010kak.2_Missense_Mutation_p.Y193N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	193	Extracellular (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)							p.Y193H(HCT15-Tumor)	992				0.112676	16.327063	37.335019	16	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69349144	69349144	1321	6	T	A	A	A	741	57	BAI3	3	3
TTK	7272	broad.mit.edu	37	6	80720675	80720675	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80720675G>T	uc003pjc.2	+	c.613_splice	c.e5+1	p.A205_splice	TTK_uc003pjb.3_Splice_Site_SNP_p.A205_splice	NM_003318	NP_003309			TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.161765	22.479004	29.879874	11	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	80720675	80720675	17275	6	G	T	T	T	572	44	TTK	5	2
FBXL4	26235	broad.mit.edu	37	6	99323305	99323305	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:99323305T>G	uc003ppf.1	-	c.1688A>C	c.(1687-1689)CAG>CCG	p.Q563P	FBXL4_uc003ppg.1_Missense_Mutation_p.Q563P|FBXL4_uc003pph.1_Missense_Mutation_p.Q165P|FBXL4_uc010kcp.2_Missense_Mutation_p.Q141P	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	563	LRR 8.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)										0.186047	33.886802	41.930791	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99323305	99323305	5958	6	T	G	G	G	715	55	FBXL4	4	4
C7orf52	375607	broad.mit.edu	37	7	100816680	100816680	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100816680T>A	uc003uxy.1	-	c.434A>T	c.(433-435)CAG>CTG	p.Q145L	C7orf52_uc003uxz.1_Missense_Mutation_p.Q145L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	145	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)													0.25	29.638355	32.604479	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100816680	100816680	2508	7	T	A	A	A	715	55	C7orf52	3	3
FLNC	2318	broad.mit.edu	37	7	128496821	128496821	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128496821C>G	uc003vnz.3	+	c.7407C>G	c.(7405-7407)ATC>ATG	p.I2469M	FLNC_uc003voa.3_Missense_Mutation_p.I2436M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2469	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.397059	96.629315	97.253821	27	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128496821	128496821	6177	7	C	G	G	G	382	30	FLNC	3	3
RHEB	6009	broad.mit.edu	37	7	151188085	151188085	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151188085G>A	uc003wkh.1	-	c.68C>T	c.(67-69)ACG>ATG	p.T23M		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Ras homolog enriched in brain precursor	23					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			large_intestine(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)				115				0.097826	4.80158	19.704102	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151188085	151188085	13803	7	G	A	A	A	520	40	RHEB	1	1
NPC1L1	29881	broad.mit.edu	37	7	44571766	44571766	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44571766C>A	uc003tlb.2	-	c.2460G>T	c.(2458-2460)CCG>CCT	p.P820P	NPC1L1_uc003tlc.2_Silent_p.P820P|NPC1L1_uc011kbw.1_Silent_p.P820P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	820	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.298246	129.549007	135.778185	51	120	KEEP	---	---	---	---	capture		Silent	SNP	44571766	44571766	10975	7	C	A	A	A	340	27	NPC1L1	1	1
FBXL18	80028	broad.mit.edu	37	7	5540239	5540239	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5540239C>A	uc003soo.2	-	c.1661G>T	c.(1660-1662)GGC>GTC	p.G554V	FBXL18_uc003son.3_Missense_Mutation_p.G554V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	554	LRR 10.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)										0.142857	7.151745	11.454415	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5540239	5540239	5951	7	C	A	A	A	338	26	FBXL18	2	2
NXPH1	30010	broad.mit.edu	37	7	8790645	8790645	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:8790645G>T	uc003srv.2	+	c.62G>T	c.(61-63)TGT>TTT	p.C21F	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	21						extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)										0.140187	25.447401	38.826288	15	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8790645	8790645	11195	7	G	T	T	T	624	48	NXPH1	2	2
MGC26647	219557	broad.mit.edu	37	7	88423561	88423561	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88423561C>A	uc003ujv.2	-	c.696G>T	c.(694-696)ATG>ATT	p.M232I	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	232											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)											0.28	59.442421	62.706391	21	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88423561	88423561	9940	7	C	A	A	A	221	17	MGC26647	2	2
DYNC1I1	1780	broad.mit.edu	37	7	95439773	95439773	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95439773G>A	uc003uoc.3	+	c.178G>A	c.(178-180)GAG>AAG	p.E60K	DYNC1I1_uc003uod.3_Missense_Mutation_p.E60K|DYNC1I1_uc003uob.2_Missense_Mutation_p.E60K|DYNC1I1_uc003uoe.3_Missense_Mutation_p.E60K|DYNC1I1_uc010lfl.2_Missense_Mutation_p.E66K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	60	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)											0.289474	30.710351	32.219371	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95439773	95439773	5028	7	G	A	A	A	429	33	DYNC1I1	2	2
VPS13B	157680	broad.mit.edu	37	8	100844746	100844746	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100844746G>T	uc003yiv.2	+	c.9555G>T	c.(9553-9555)ATG>ATT	p.M3185I	VPS13B_uc003yiw.2_Missense_Mutation_p.M3160I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3185					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.0875	1.458933	15.236359	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100844746	100844746	17757	8	G	T	T	T	598	46	VPS13B	2	2
RIMS2	9699	broad.mit.edu	37	8	104897845	104897845	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104897845G>T	uc003yls.2	+	c.352G>T	c.(352-354)GCC>TCC	p.A118S	RIMS2_uc003ylp.2_Missense_Mutation_p.A340S|RIMS2_uc003ylw.2_Missense_Mutation_p.A148S|RIMS2_uc003ylq.2_Missense_Mutation_p.A148S|RIMS2_uc003ylr.2_Missense_Mutation_p.A148S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	371					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.423077	55.073885	55.353425	22	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104897845	104897845	13845	8	G	T	T	T	546	42	RIMS2	2	2
ANGPT1	284	broad.mit.edu	37	8	108264187	108264187	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108264187C>G	uc003ymn.2	-	c.1393G>C	c.(1393-1395)GGA>CGA	p.G465R	ANGPT1_uc011lhv.1_Missense_Mutation_p.G265R|ANGPT1_uc003ymo.2_Missense_Mutation_p.G464R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	465	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.150142	104.048654	145.463068	53	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108264187	108264187	613	8	C	G	G	G	286	22	ANGPT1	3	3
FAM167A	83648	broad.mit.edu	37	8	11301689	11301689	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11301689C>A	uc010lry.1	-	c.232G>T	c.(232-234)GGG>TGG	p.G78W	FAM167A_uc003wtw.2_Missense_Mutation_p.G78W	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	78											0														0.177778	15.095508	19.478048	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11301689	11301689	5687	8	C	A	A	A	286	22	FAM167A	2	2
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131916288C>T	uc003ytd.3	-	c.1641G>A	c.(1639-1641)GGG>GGA	p.G547G	ADCY8_uc010mds.2_Silent_p.G547G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	547	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.268041	198.668401	212.775094	78	213	KEEP	---	---	---	---	capture		Silent	SNP	131916288	131916288	301	8	C	T	T	T	379	30	ADCY8	2	2
WISP1	8840	broad.mit.edu	37	8	134232987	134232987	+	Silent	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134232987G>T	uc003yub.2	+	c.513G>T	c.(511-513)CGG>CGT	p.R171R	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	171	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.219512	37.016372	42.953429	18	64	KEEP	---	---	---	---	capture		Silent	SNP	134232987	134232987	17946	8	G	T	T	T	535	42	WISP1	2	2
CSMD1	64478	broad.mit.edu	37	8	3072116	3072116	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3072116A>T	uc011kwk.1	-	c.4773T>A	c.(4771-4773)TGT>TGA	p.C1591*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.C983*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.C747*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1591	Extracellular (Potential).|Sushi 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.6	8.725175	8.768872	3	2	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3072116	3072116	4085	8	A	T	T	T	76	6	CSMD1	5	3
RAB11FIP1	80223	broad.mit.edu	37	8	37729987	37729987	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37729987C>A	uc003xkm.1	-	c.2333G>T	c.(2332-2334)GGA>GTA	p.G778V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	778					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)											0.110236	9.572929	28.656605	14	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37729987	37729987	13352	8	C	A	A	A	390	30	RAB11FIP1	2	2
ADRB3	155	broad.mit.edu	37	8	37823766	37823766	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37823766C>A	uc003xkr.1	-	c.222G>T	c.(220-222)GTG>GTT	p.V74V		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	74	Helical; Name=2; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity				0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)									0.16	7.296446	10.0385	4	21	KEEP	---	---	---	---	capture		Silent	SNP	37823766	37823766	343	8	C	A	A	A	210	17	ADRB3	2	2
PRKDC	5591	broad.mit.edu	37	8	48690420	48690420	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48690420C>A	uc003xqi.2	-	c.11869G>T	c.(11869-11871)GAG>TAG	p.E3957*	PRKDC_uc003xqj.2_Nonsense_Mutation_p.E3926*|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3957	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.232558	45.950744	51.587218	20	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48690420	48690420	12964	8	C	A	A	A	377	29	PRKDC	5	2
PRKDC	5591	broad.mit.edu	37	8	48762047	48762047	+	Silent	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48762047C>G	uc003xqi.2	-	c.7023G>C	c.(7021-7023)CTG>CTC	p.L2341L	PRKDC_uc003xqj.2_Silent_p.L2341L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2341					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.092593	8.46153	26.505355	10	98	KEEP	---	---	---	---	capture		Silent	SNP	48762047	48762047	12964	8	C	G	G	G	210	17	PRKDC	3	3
ST18	9705	broad.mit.edu	37	8	53028861	53028861	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53028861G>A	uc003xqz.2	-	c.2977C>T	c.(2977-2979)CTT>TTT	p.L993F	ST18_uc011ldq.1_Missense_Mutation_p.L640F|ST18_uc011ldr.1_Missense_Mutation_p.L958F|ST18_uc011lds.1_Missense_Mutation_p.L898F|ST18_uc003xra.2_Missense_Mutation_p.L993F	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.169014	73.559125	95.658347	36	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53028861	53028861	15730	8	G	A	A	A	455	35	ST18	2	2
DEFA6	1671	broad.mit.edu	37	8	6783434	6783434	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6783434G>T	uc003wqt.2	-	c.124C>A	c.(124-126)CGT>AGT	p.R42S		NM_001926	NP_001917	Q01524	DEF6_HUMAN	defensin, alpha 6 preproprotein	42					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)										0.145455	12.668873	19.315015	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6783434	6783434	4564	8	G	T	T	T	494	38	DEFA6	1	1
TLR4	7099	broad.mit.edu	37	9	120476416	120476416	+	Silent	SNP	T	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476416T>A	uc004bjz.2	+	c.2010T>A	c.(2008-2010)GGT>GGA	p.G670G	TLR4_uc004bka.2_Silent_p.G630G|TLR4_uc004bkb.2_Silent_p.G470G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	670	Cytoplasmic (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.128205	12.799245	23.331554	10	68	KEEP	---	---	---	---	capture		Silent	SNP	120476416	120476416	16483	9	T	A	A	A	756	59	TLR4	3	3
TLR4	7099	broad.mit.edu	37	9	120476829	120476830	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476829_120476830GG>TT	uc004bjz.2	+	c.2423_2424GG>TT	c.(2422-2424)TGG>TTT	p.W808F	TLR4_uc004bka.2_Missense_Mutation_p.W768F|TLR4_uc004bkb.2_Missense_Mutation_p.W608F	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	808	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.088235	4.586401	33.736829	15	155	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	120476829	120476830	16483	9	GG	TT	TT	TT	611	47	TLR4	2	2
CDK5RAP2	55755	broad.mit.edu	37	9	123177335	123177335	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123177335C>A	uc004bkf.2	-	c.4280G>T	c.(4279-4281)GGA>GTA	p.G1427V	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.G436V|CDK5RAP2_uc004bke.2_Missense_Mutation_p.G712V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.G1427V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.G692V|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.G1197V|CDK5RAP2_uc004bki.2_Missense_Mutation_p.G1194V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1427					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.125	20.84083	43.954827	21	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123177335	123177335	3275	9	C	A	A	A	390	30	CDK5RAP2	2	2
KIAA0649	9858	broad.mit.edu	37	9	138376778	138376778	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138376778T>C	uc004cfr.1	+	c.422T>C	c.(421-423)CTG>CCG	p.L141P		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	141						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)										0.108434	7.325395	19.936003	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138376778	138376778	8494	9	T	C	C	C	715	55	KIAA0649	4	4
FREM1	158326	broad.mit.edu	37	9	14746969	14746969	+	Silent	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14746969C>A	uc003zlm.2	-	c.6090G>T	c.(6088-6090)CTG>CTT	p.L2030L	FREM1_uc010mic.2_Non-coding_Transcript|FREM1_uc003zlk.2_Non-coding_Transcript|FREM1_uc003zll.2_Silent_p.L566L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2030					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.217391	23.522827	26.912002	10	36	KEEP	---	---	---	---	capture		Silent	SNP	14746969	14746969	6291	9	C	A	A	A	210	17	FREM1	2	2
ELAVL2	1993	broad.mit.edu	37	9	23701601	23701601	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:23701601G>A	uc003zpu.2	-	c.489C>T	c.(487-489)GGC>GGT	p.G163G	ELAVL2_uc003zps.2_Silent_p.G163G|ELAVL2_uc003zpt.2_Silent_p.G163G|ELAVL2_uc003zpv.2_Silent_p.G163G|ELAVL2_uc003zpw.2_Silent_p.G163G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	163	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)										0.191489	65.07453	81.813677	36	152	KEEP	---	---	---	---	capture		Silent	SNP	23701601	23701601	5241	9	G	A	A	A	587	46	ELAVL2	2	2
PRUNE2	158471	broad.mit.edu	37	9	79267519	79267519	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79267519C>A	uc010mpk.2	-	c.8437G>T	c.(8437-8439)GAC>TAC	p.D2813Y	PRUNE2_uc011lsk.1_Missense_Mutation_p.D62Y|PRUNE2_uc011lsl.1_Missense_Mutation_p.D77Y|PRUNE2_uc011lsm.1_Missense_Mutation_p.D77Y|PRUNE2_uc004akj.3_Missense_Mutation_p.D266Y|PRUNE2_uc010mpl.1_Missense_Mutation_p.D266Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2813					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.106122	17.456147	55.227859	26	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79267519	79267519	13092	9	C	A	A	A	390	30	PRUNE2	2	2
PTPRD	5789	broad.mit.edu	37	9	8492918	8492918	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8492918G>T	uc003zkk.2	-	c.2411C>A	c.(2410-2412)ACA>AAA	p.T804K	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T795K|PTPRD_uc003zkm.2_Missense_Mutation_p.T791K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	804	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.077295	-0.77245	37.081471	16	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8492918	8492918	13256	9	G	T	T	T	624	48	PTPRD	2	2
DMRT1	1761	broad.mit.edu	37	9	893993	893993	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:893993C>A	uc003zgv.2	+	c.620C>A	c.(619-621)TCC>TAC	p.S207Y	DMRT1_uc003zgu.1_Missense_Mutation_p.S207Y	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	207					cell differentiation|male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)								OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.351145	112.419307	114.975268	46	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	893993	893993	4765	9	C	A	A	A	390	30	DMRT1	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125685797	125685797	+	Silent	SNP	C	T	T			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125685797C>T	uc004eul.2	-	c.795G>A	c.(793-795)GTG>GTA	p.V265V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	265	WD 3.									skin(3)	3														0.580645	49.146153	49.320803	18	13	KEEP	---	---	---	---	capture		Silent	SNP	125685797	125685797	4435	23	C	T	T	T	314	25	DCAF12L1	2	2
ELF4	2000	broad.mit.edu	37	X	129206319	129206319	+	Silent	SNP	G	A	A			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129206319G>A	uc004evd.3	-	c.414C>T	c.(412-414)GCC>GCT	p.A138A	ELF4_uc004eve.3_Silent_p.A138A	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	138	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1										86				0.255102	64.917817	70.259074	25	73	KEEP	---	---	---	---	capture		Silent	SNP	129206319	129206319	5247	23	G	A	A	A	444	35	ELF4	2	2
OFD1	8481	broad.mit.edu	37	X	13753440	13753440	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13753440A>G	uc004cvp.3	+	c.86A>G	c.(85-87)GAT>GGT	p.D29G	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.D28G|OFD1_uc004cvs.3_Non-coding_Transcript|OFD1_uc004cvu.3_Missense_Mutation_p.D28G|OFD1_uc004cvv.3_Missense_Mutation_p.D28G|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	29					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0														0.540541	138.27144	138.374744	40	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13753440	13753440	11243	23	A	G	G	G	156	12	OFD1	4	4
YY2	404281	broad.mit.edu	37	X	21875364	21875364	+	Silent	SNP	C	G	G			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21875364C>G	uc010nfq.2	+	c.1416C>G	c.(1414-1416)GTC>GTG	p.V472V	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|MBTPS2_uc004dab.2_Intron|YY2_uc011mjp.1_Silent_p.V254V	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	254	Mediates transcriptional repression.|C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2														0.526316	290.409292	290.500812	80	72	KEEP	---	---	---	---	capture		Silent	SNP	21875364	21875364	18092	23	C	G	G	G	379	30	YY2	3	3
FAM123A	219287	broad.mit.edu	37	13	25744101	25744101	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25744101_25744101delC	uc001uqb.2	-	c.1657_1657delG	c.(1657-1659)GACfs	p.D553fs	FAM123A_uc001uqa.2_Frame_Shift_Del_p.D434fs|FAM123A_uc001uqc.2_Frame_Shift_Del_p.D434fs	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	553										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.35			34	62		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	25744101	25744101	5619	13	C	-	-	-	390	30	FAM123A	5	5
SBNO2	22904	broad.mit.edu	37	19	1123583	1123597	+	In_Frame_Del	DEL	GCCTCCTCCTCCTCA	-	-			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1123583_1123597delGCCTCCTCCTCCTCA	uc002lrk.3	-	c.564_578delTGAGGAGGAGGAGGC	c.(562-579)GCTGAGGAGGAGGAGGCG>GCG	p.188_193AEEEEA>A	SBNO2_uc002lrj.3_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dse.2_In_Frame_Del_p.181_186AEEEEA>A|SBNO2_uc010xgj.1_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dsf.2_In_Frame_Del_p.131_136AEEEEA>A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	188_193	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent		transcription repressor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.33			12	24		---	---	---	---	capture_indel		In_Frame_Del	DEL	1123583	1123597	14344	19	GCCTCCTCCTCCTCA	-	-	-	494	38	SBNO2	5	5
HES1	3280	broad.mit.edu	37	3	193855908	193855908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-73-4659-01	TCGA-73-4659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193855908_193855908delT	uc003ftq.1	+	c.729_729delT	c.(727-729)CCTfs	p.P243fs		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	243	Pro-rich.				endocrine pancreas development|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)										0.33			18	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	193855908	193855908	7348	3	T	-	-	-	704	55	HES1	5	5
