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
GFRA1	2674	broad.mit.edu	37	10	117885022	117885022	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117885022G>T	uc001lcj.2	-	c.480C>A	c.(478-480)GCC>GCA	p.A160A	GFRA1_uc001lci.2_Silent_p.A155A|GFRA1_uc009xyr.2_Silent_p.A155A	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	160	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		Ovarian(128;329 1725 45498 46808 50759)								0.3	32.082765	33.513238	12	28	KEEP	---	---	---	---	capture		Silent	SNP	117885022	117885022	6615	10	G	T	T	T	444	35	GFRA1	2	2
PNLIPRP1	5407	broad.mit.edu	37	10	118357673	118357673	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118357673G>T	uc001lco.1	+	c.809G>T	c.(808-810)TGG>TTG	p.W270L	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.W270L	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	270					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.263158	25.551825	27.467491	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118357673	118357673	12576	10	G	T	T	T	611	47	PNLIPRP1	2	2
MKI67	4288	broad.mit.edu	37	10	129901424	129901424	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129901424C>A	uc001lke.2	-	c.8680G>T	c.(8680-8682)GAC>TAC	p.D2894Y	MKI67_uc001lkf.2_Missense_Mutation_p.D2534Y|MKI67_uc009yav.1_Missense_Mutation_p.D2469Y|MKI67_uc009yaw.1_Missense_Mutation_p.D2044Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2894	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.220588	90.353788	105.032172	45	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129901424	129901424	9988	10	C	A	A	A	390	30	MKI67	2	2
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17130324C>A	uc001ioo.2	-	c.1786G>T	c.(1786-1788)GGT>TGT	p.G596C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	596	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)				p.G596C(GRANTA519-Tumor)	2704				0.169811	17.738545	23.209086	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17130324	17130324	4211	10	C	A	A	A	273	21	CUBN	2	2
ITGB1	3688	broad.mit.edu	37	10	33214878	33214878	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:33214878A>G	uc001iwq.3	-	c.707T>C	c.(706-708)GTT>GCT	p.V236A	ITGB1_uc001iwp.3_Missense_Mutation_p.V236A|ITGB1_uc001iwr.3_Missense_Mutation_p.V236A|ITGB1_uc001iws.3_Missense_Mutation_p.V236A|ITGB1_uc001iwt.3_Missense_Mutation_p.V236A|ITGB1_uc001iwu.1_Missense_Mutation_p.V236A	NM_033667	NP_391987	P05556	ITB1_HUMAN	integrin beta 1 isoform 1C-1 precursor	236	Extracellular (Potential).|VWFA.				axon guidance|B cell differentiation|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			ovary(1)	1		Ovarian(717;1.34e-05)|Breast(68;0.0634)								377				0.2	111.316814	127.635293	39	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33214878	33214878	8194	10	A	G	G	G	26	2	ITGB1	4	4
RET	5979	broad.mit.edu	37	10	43602005	43602005	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43602005C>A	uc001jal.2	+	c.1049C>A	c.(1048-1050)ACC>AAC	p.T350N	RET_uc001jak.1_Missense_Mutation_p.T350N|RET_uc010qez.1_Missense_Mutation_p.T96N	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	350	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.219512	17.264685	20.230216	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43602005	43602005	13705	10	C	A	A	A	234	18	RET	2	2
PCDH15	65217	broad.mit.edu	37	10	55569185	55569185	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55569185C>G	uc010qhs.1	-	c.4640G>C	c.(4639-4641)AGA>ACA	p.R1547T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1540T|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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				0.350365	342.722368	348.133127	96	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55569185	55569185	11931	10	C	G	G	G	416	32	PCDH15	3	3
PCDH15	65217	broad.mit.edu	37	10	55626616	55626616	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55626616G>T	uc010qhy.1	-	c.3518C>A	c.(3517-3519)GCT>GAT	p.A1173D	PCDH15_uc010qhq.1_Missense_Mutation_p.A1173D|PCDH15_uc010qhr.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhs.1_Missense_Mutation_p.A1180D|PCDH15_uc010qht.1_Missense_Mutation_p.A1175D|PCDH15_uc010qhu.1_Missense_Mutation_p.A1168D|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhw.1_Missense_Mutation_p.A1131D|PCDH15_uc010qhx.1_Missense_Mutation_p.A1097D|PCDH15_uc010qhz.1_Missense_Mutation_p.A1168D|PCDH15_uc010qia.1_Missense_Mutation_p.A1146D|PCDH15_uc001jju.1_Missense_Mutation_p.A1168D|PCDH15_uc010qib.1_Missense_Mutation_p.A1146D	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1168	Cadherin 11.|Extracellular (Potential).				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				0.266234	102.194471	109.80585	41	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55626616	55626616	11931	10	G	T	T	T	442	34	PCDH15	2	2
FAM13C	220965	broad.mit.edu	37	10	61022292	61022292	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61022292C>A	uc010qif.1	-	c.1204G>T	c.(1204-1206)GGC>TGC	p.G402C	FAM13C_uc001jkn.2_Missense_Mutation_p.G380C|FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.G297C|FAM13C_uc010qie.1_Missense_Mutation_p.G297C|FAM13C_uc001jkp.2_Missense_Mutation_p.G297C	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	380										ovary(1)	1														0.412281	130.492257	131.260839	47	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61022292	61022292	5651	10	C	A	A	A	286	22	FAM13C	2	2
UNC5B	219699	broad.mit.edu	37	10	73053228	73053228	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73053228G>A	uc001jro.2	+	c.1839G>A	c.(1837-1839)CTG>CTA	p.L613L	UNC5B_uc001jrp.2_Silent_p.L602L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	613	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.151316	30.751145	48.44099	23	129	KEEP	---	---	---	---	capture		Silent	SNP	73053228	73053228	17550	10	G	A	A	A	587	46	UNC5B	2	2
SORBS1	10580	broad.mit.edu	37	10	97158866	97158866	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97158866C>G	uc001kkp.2	-	c.1066G>C	c.(1066-1068)GAA>CAA	p.E356Q	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.E189Q|SORBS1_uc001kkm.2_Missense_Mutation_p.E212Q|SORBS1_uc001kko.2_Missense_Mutation_p.E356Q|SORBS1_uc001kkq.2_Missense_Mutation_p.E287Q|SORBS1_uc001kkr.2_Missense_Mutation_p.E192Q|SORBS1_uc001kks.2_Missense_Mutation_p.E192Q|SORBS1_uc001kkt.2_Non-coding_Transcript|SORBS1_uc001kku.2_Missense_Mutation_p.E233Q|SORBS1_uc001kkv.2_Missense_Mutation_p.E324Q|SORBS1_uc001kkw.2_Missense_Mutation_p.E356Q|SORBS1_uc010qoe.1_Missense_Mutation_p.E201Q|SORBS1_uc010qof.1_Missense_Mutation_p.E554Q	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	356					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)										0.256881	89.648395	95.48843	28	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97158866	97158866	15427	10	C	G	G	G	377	29	SORBS1	3	3
PTH	5741	broad.mit.edu	37	11	13514010	13514010	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:13514010C>T	uc001mlb.2	-	c.290G>A	c.(289-291)AGT>AAT	p.S97N		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	97					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)										0.151515	23.34986	34.895032	15	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13514010	13514010	13212	11	C	T	T	T	260	20	PTH	2	2
RRAS2	22800	broad.mit.edu	37	11	14316111	14316111	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14316111T>C	uc010rco.1	-	c.332A>G	c.(331-333)TAT>TGT	p.Y111C	RRAS2_uc009ygq.2_Missense_Mutation_p.Y28C|RRAS2_uc001mlf.3_Missense_Mutation_p.Y105C	NM_001102669	NP_001096139	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	105						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)										0.125	10.295635	15.7484	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14316111	14316111	14157	11	T	C	C	C	637	49	RRAS2	4	4
LUZP2	338645	broad.mit.edu	37	11	24759849	24759849	+	Splice_Site_SNP	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:24759849G>T	uc001mqs.2	+	c.333_splice	c.e4+1	p.T111_splice	LUZP2_uc009yif.2_Splice_Site_SNP_p.T25_splice|LUZP2_uc009yig.2_Splice_Site_SNP_p.T111_splice	NM_001009909	NP_001009909			leucine zipper protein 2 precursor							extracellular region				ovary(1)	1														0.342857	36.387988	37.15221	12	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	24759849	24759849	9463	11	G	T	T	T	624	48	LUZP2	5	2
KIF18A	81930	broad.mit.edu	37	11	28116239	28116239	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:28116239T>C	uc001msc.2	-	c.434A>G	c.(433-435)GAT>GGT	p.D145G		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	145	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.16875	63.434904	80.049644	27	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28116239	28116239	8591	11	T	C	C	C	650	50	KIF18A	4	4
WT1	7490	broad.mit.edu	37	11	32414287	32414287	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32414287G>T	uc001mtn.1	-	c.1264C>A	c.(1264-1266)CAG>AAG	p.Q422K	WT1_uc001mtl.1_Missense_Mutation_p.Q210K|WT1_uc001mtm.1_Missense_Mutation_p.Q193K|WT1_uc001mto.1_Missense_Mutation_p.Q422K|WT1_uc001mtp.1_Missense_Mutation_p.Q405K|WT1_uc001mtq.1_Missense_Mutation_p.Q405K|WT1_uc009yjs.1_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	354	C2H2-type 2.				adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.289474	57.815205	60.836766	22	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32414287	32414287	17982	11	G	T	T	T	611	47	WT1	2	2
OR52J3	119679	broad.mit.edu	37	11	5068622	5068622	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5068622C>T	uc010qyv.1	+	c.867C>T	c.(865-867)AAC>AAT	p.N289N		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.198473	56.165915	67.260773	26	105	KEEP	---	---	---	---	capture		Silent	SNP	5068622	5068622	11532	11	C	T	T	T	233	18	OR52J3	2	2
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5474954C>A	uc010qzf.1	+	c.236C>A	c.(235-237)CCC>CAC	p.P79H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.228346	66.803378	75.405578	29	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5474954	5474954	11511	11	C	A	A	A	286	22	OR51I2	2	2
OR4A15	81328	broad.mit.edu	37	11	55135556	55135556	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135556C>T	uc010rif.1	+	c.197C>T	c.(196-198)ACG>ATG	p.T66M		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	66	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.236111	74.912941	84.06541	34	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135556	55135556	11446	11	C	T	T	T	247	19	OR4A15	1	1
OR5AS1	219447	broad.mit.edu	37	11	55798578	55798578	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55798578C>A	uc010riw.1	+	c.684C>A	c.(682-684)ATC>ATA	p.I228I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.285326	271.900032	287.135486	105	263	KEEP	---	---	---	---	capture		Silent	SNP	55798578	55798578	11556	11	C	A	A	A	369	29	OR5AS1	2	2
OR5B17	219965	broad.mit.edu	37	11	58125640	58125640	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58125640C>T	uc010rke.1	-	c.903G>A	c.(901-903)AAG>AAA	p.K301K		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.228758	95.242169	105.567498	35	118	KEEP	---	---	---	---	capture		Silent	SNP	58125640	58125640	11559	11	C	T	T	T	311	24	OR5B17	2	2
OR5B2	390190	broad.mit.edu	37	11	58189942	58189942	+	Missense_Mutation	SNP	A	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58189942A>C	uc010rkg.1	-	c.793T>G	c.(793-795)TCC>GCC	p.S265A		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.224138	30.038457	34.102048	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58189942	58189942	11560	11	A	C	C	C	143	11	OR5B2	4	4
TCN1	6947	broad.mit.edu	37	11	59626664	59626664	+	Silent	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59626664T>C	uc001noj.2	-	c.633A>G	c.(631-633)GAA>GAG	p.E211E		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	211					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.165975	104.445564	129.948984	40	201	KEEP	---	---	---	---	capture		Silent	SNP	59626664	59626664	16232	11	T	C	C	C	725	56	TCN1	4	4
MS4A14	84689	broad.mit.edu	37	11	60183087	60183087	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60183087C>A	uc001npj.2	+	c.646C>A	c.(646-648)CCT>ACT	p.P216T	MS4A14_uc001npi.2_Missense_Mutation_p.P104T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P199T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	216						integral to membrane	receptor activity			breast(1)	1														0.08209	-1.688105	22.142793	11	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60183087	60183087	10251	11	C	A	A	A	390	30	MS4A14	2	2
OR56B4	196335	broad.mit.edu	37	11	6129250	6129250	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6129250C>A	uc010qzx.1	+	c.242C>A	c.(241-243)ACC>AAC	p.T81N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.22807	31.166375	35.018881	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6129250	6129250	11548	11	C	A	A	A	234	18	OR56B4	2	2
KRTAP5-10	387273	broad.mit.edu	37	11	71276953	71276953	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71276953G>T	uc001oqt.1	+	c.320G>T	c.(319-321)TGT>TTT	p.C107F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	107	7 X 4 AA repeats of C-C-X-P.					keratin filament					0														0.433333	71.610572	71.847723	26	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71276953	71276953	8881	11	G	T	T	T	624	48	KRTAP5-10	2	2
GRM5	2915	broad.mit.edu	37	11	88300589	88300589	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88300589G>T	uc001pcq.2	-	c.2262C>A	c.(2260-2262)TGC>TGA	p.C754*	GRM5_uc009yvm.2_Nonsense_Mutation_p.C754*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	754	Helical; Name=5; (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.358974	192.776346	196.199135	70	125	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88300589	88300589	7079	11	G	T	T	T	594	46	GRM5	5	2
FAT3	120114	broad.mit.edu	37	11	92613965	92613965	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92613965C>T	uc001pdj.3	+	c.12196C>T	c.(12196-12198)CCA>TCA	p.P4066S	FAT3_uc001pdi.3_Missense_Mutation_p.P506S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4066	EGF-like 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.338645	244.670426	250.461916	85	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92613965	92613965	5927	11	C	T	T	T	286	22	FAT3	2	2
MTMR2	8898	broad.mit.edu	37	11	95583771	95583771	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:95583771C>T	uc001pfu.2	-	c.797G>A	c.(796-798)CGT>CAT	p.R266H	MTMR2_uc001pfv.2_Missense_Mutation_p.R194H|MTMR2_uc001pfs.2_Missense_Mutation_p.R194H|MTMR2_uc001pft.2_Missense_Mutation_p.R194H|MTMR2_uc010ruj.1_Missense_Mutation_p.R249H	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	266	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.190476	57.912295	71.080266	28	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95583771	95583771	10337	11	C	T	T	T	247	19	MTMR2	1	1
BTBD11	121551	broad.mit.edu	37	12	107914364	107914364	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107914364C>A	uc001tmk.1	+	c.1236C>A	c.(1234-1236)ACC>ACA	p.T412T	BTBD11_uc009zut.1_Silent_p.T412T|BTBD11_uc001tmj.2_Silent_p.T412T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	412						integral to membrane	DNA binding			ovary(1)	1														0.12963	19.269455	33.695125	14	94	KEEP	---	---	---	---	capture		Silent	SNP	107914364	107914364	1571	12	C	A	A	A	262	21	BTBD11	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|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.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|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)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.233333	16.708285	18.662056	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
ITPR2	3709	broad.mit.edu	37	12	26596496	26596496	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26596496T>A	uc001rhg.2	-	c.6430A>T	c.(6430-6432)AAC>TAC	p.N2144Y	ITPR2_uc009zjg.1_Missense_Mutation_p.N295Y	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2144	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.317647	72.995001	75.507727	27	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26596496	26596496	8225	12	T	A	A	A	819	63	ITPR2	3	3
PIP4K2C	79837	broad.mit.edu	37	12	57995329	57995329	+	Silent	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57995329T>C	uc001sou.2	+	c.1206T>C	c.(1204-1206)ACT>ACC	p.T402T	PIP4K2C_uc001sot.2_Silent_p.T402T|PIP4K2C_uc010srs.1_Silent_p.T384T|PIP4K2C_uc010srt.1_Silent_p.T354T	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	402	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)									258				0.188172	77.517576	94.445287	35	151	KEEP	---	---	---	---	capture		Silent	SNP	57995329	57995329	12362	12	T	C	C	C	704	55	PIP4K2C	4	4
HMGA2	8091	broad.mit.edu	37	12	66221790	66221790	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66221790G>T	uc001ssu.1	+	c.121G>T	c.(121-123)GGT>TGT	p.G41C	RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Missense_Mutation_p.G41C|HMGA2_uc001ssx.2_Missense_Mutation_p.G41C|HMGA2_uc001ssp.1_Non-coding_Transcript|HMGA2_uc010ssv.1_Non-coding_Transcript|HMGA2_uc001sss.1_Non-coding_Transcript|HMGA2_uc001sst.1_Missense_Mutation_p.G41C|HMGA2_uc001ssv.2_Missense_Mutation_p.G41C	NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	41					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(12)|HMGA2/RAD51L1(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(20)	206	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)						109				0.156863	32.583439	44.002666	16	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66221790	66221790	7515	12	G	T	T	T	507	39	HMGA2	1	1
CD4	920	broad.mit.edu	37	12	6909341	6909341	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6909341G>T	uc001qqv.1	+	c.37G>T	c.(37-39)GTG>TTG	p.V13L	CD4_uc009zez.1_Missense_Mutation_p.V13L|CD4_uc009zfa.1_Intron|CD4_uc009zfb.1_Intron|CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	13					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)												0.127273	20.470013	35.375711	14	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6909341	6909341	3142	12	G	T	T	T	572	44	CD4	2	2
GLIPR1	11010	broad.mit.edu	37	12	75875665	75875665	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75875665C>A	uc001sxs.2	+	c.226C>A	c.(226-228)CAG>AAG	p.Q76K	GLIPR1_uc009zsb.1_Missense_Mutation_p.Q76K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1 precursor	76					cellular lipid metabolic process	extracellular region|integral to membrane				large_intestine(1)|ovary(1)	2														0.315556	188.939448	195.750888	71	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75875665	75875665	6709	12	C	A	A	A	273	21	GLIPR1	2	2
NAV3	89795	broad.mit.edu	37	12	78400364	78400364	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400364C>A	uc001syp.2	+	c.1046C>A	c.(1045-1047)ACT>AAT	p.T349N	NAV3_uc001syo.2_Missense_Mutation_p.T349N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	349						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.325581	76.973837	79.293369	28	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78400364	78400364	10581	12	C	A	A	A	260	20	NAV3	2	2
ERCC5	2073	broad.mit.edu	37	13	103460022	103460022	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103460022C>T	uc001vpu.1	+	c.405C>T	c.(403-405)GGC>GGT	p.G135G	BIVM_uc001vps.2_Silent_p.G135G|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Silent_p.G135G	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	180					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.096774	2.705298	17.864047	9	84	KEEP	---	---	---	---	capture		Silent	SNP	103460022	103460022	5409	13	C	T	T	T	314	25	ERCC5	2	2
TRPC4	7223	broad.mit.edu	37	13	38225510	38225510	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38225510G>A	uc010abx.2	-	c.1971C>T	c.(1969-1971)TTC>TTT	p.F657F	TRPC4_uc010abv.2_Silent_p.F237F|TRPC4_uc001uwt.2_Silent_p.F657F|TRPC4_uc001uws.2_Silent_p.F657F|TRPC4_uc010tey.1_Silent_p.F657F|TRPC4_uc010abw.2_Silent_p.F484F|TRPC4_uc010aby.2_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	657	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.15625	29.076775	43.593478	20	108	KEEP	---	---	---	---	capture		Silent	SNP	38225510	38225510	17131	13	G	A	A	A	581	45	TRPC4	2	2
KLHL1	57626	broad.mit.edu	37	13	70681814	70681814	+	Silent	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70681814T>A	uc001vip.2	-	c.18A>T	c.(16-18)CGA>CGT	p.R6R	KLHL1_uc010thm.1_Silent_p.R6R|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.34375	27.212307	27.903727	11	21	KEEP	---	---	---	---	capture		Silent	SNP	70681814	70681814	8677	13	T	A	A	A	795	62	KLHL1	3	3
DACH1	1602	broad.mit.edu	37	13	72134055	72134055	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72134055G>A	uc010thn.1	-	c.1332C>T	c.(1330-1332)CCC>CCT	p.P444P	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	496					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.366667	35.11702	35.586039	11	19	KEEP	---	---	---	---	capture		Silent	SNP	72134055	72134055	4386	13	G	A	A	A	444	35	DACH1	2	2
POTEG	404785	broad.mit.edu	37	14	19566042	19566042	+	Silent	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19566042A>G	uc001vuz.1	+	c.1086A>G	c.(1084-1086)GAA>GAG	p.E362E	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	362										ovary(1)	1														0.073826	2.705492	30.51158	11	138	KEEP	---	---	---	---	capture		Silent	SNP	19566042	19566042	12696	14	A	G	G	G	11	1	POTEG	4	4
LTBP2	4053	broad.mit.edu	37	14	75078524	75078524	+	Nonsense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75078524T>A	uc001xqa.2	-	c.124A>T	c.(124-126)AGA>TGA	p.R42*		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	42					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.181818	7.487298	9.579908	4	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75078524	75078524	9450	14	T	A	A	A	700	54	LTBP2	5	3
SERPINA11	256394	broad.mit.edu	37	14	94915055	94915055	+	Nonsense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94915055A>T	uc001ydd.1	-	c.57T>A	c.(55-57)TGT>TGA	p.C19*		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	19					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)										0.16568	48.391639	66.329097	28	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94915055	94915055	14576	14	A	T	T	T	128	10	SERPINA11	5	3
DICER1	23405	broad.mit.edu	37	14	95556997	95556997	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95556997C>A	uc001ydw.2	-	c.5607G>T	c.(5605-5607)CCG>CCT	p.P1869P	DICER1_uc010avh.1_Silent_p.P767P|DICER1_uc001ydv.2_Silent_p.P1859P|DICER1_uc001ydx.2_Silent_p.P1869P	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1869	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-microRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			ovary(1)|pancreas(1)|lung(1)|skin(1)	4		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)						741				0.378125	381.212536	385.377667	121	199	KEEP	---	---	---	---	capture		Silent	SNP	95556997	95556997	4700	14	C	A	A	A	288	23	DICER1	1	1
ACAN	176	broad.mit.edu	37	15	89402517	89402517	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89402517T>C	uc010upo.1	+	c.6701T>C	c.(6700-6702)CTA>CCA	p.L2234P	ACAN_uc010upp.1_Missense_Mutation_p.L2234P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.210526	9.40024	10.872376	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89402517	89402517	118	15	T	C	C	C	689	53	ACAN	4	4
CLEC16A	23274	broad.mit.edu	37	16	11217633	11217633	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11217633G>A	uc002dao.2	+	c.2303G>A	c.(2302-2304)CGT>CAT	p.R768H	CLEC16A_uc002dan.3_Missense_Mutation_p.R750H|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	768										ovary(1)|central_nervous_system(1)	2														0.229167	51.633963	58.068085	22	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11217633	11217633	3637	16	G	A	A	A	520	40	CLEC16A	1	1
GP2	2813	broad.mit.edu	37	16	20327355	20327355	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20327355G>T	uc002dgv.2	-	c.1433C>A	c.(1432-1434)TCA>TAA	p.S478*	GP2_uc002dgw.2_Nonsense_Mutation_p.S475*|GP2_uc002dgx.2_Nonsense_Mutation_p.S331*|GP2_uc002dgy.2_Nonsense_Mutation_p.S328*	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	478	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.255319	53.746034	58.858985	24	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20327355	20327355	6856	16	G	T	T	T	585	45	GP2	5	2
ABCA3	21	broad.mit.edu	37	16	2376065	2376065	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2376065C>A	uc002cpy.1	-	c.265G>T	c.(265-267)GCT>TCT	p.A89S	ABCA3_uc010bsk.1_Missense_Mutation_p.A89S|ABCA3_uc010bsl.1_Missense_Mutation_p.A89S|ABCA3_uc002cpz.1_Missense_Mutation_p.A89S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	89					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|breast(3)|central_nervous_system(3)	10		Ovarian(90;0.17)							p.A89T(639V-Tumor)	701				0.349398	84.452011	86.112216	29	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2376065	2376065	34	16	C	A	A	A	351	27	ABCA3	1	1
RBBP6	5930	broad.mit.edu	37	16	24582841	24582841	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24582841C>A	uc002dmh.2	+	c.4454C>A	c.(4453-4455)TCC>TAC	p.S1485Y	RBBP6_uc002dmi.2_Missense_Mutation_p.S1451Y|RBBP6_uc010bxr.2_Missense_Mutation_p.S645Y|RBBP6_uc002dmk.2_Missense_Mutation_p.S1318Y	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1485	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.163462	20.922196	32.276888	17	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24582841	24582841	13564	16	C	A	A	A	390	30	RBBP6	2	2
KIAA0556	23247	broad.mit.edu	37	16	27710904	27710904	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27710904A>T	uc002dow.2	+	c.1163A>T	c.(1162-1164)AAG>ATG	p.K388M	KIAA0556_uc002dox.1_Missense_Mutation_p.K296M	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	388										ovary(4)|large_intestine(2)	6														0.188406	24.532763	30.807231	13	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27710904	27710904	8490	16	A	T	T	T	39	3	KIAA0556	3	3
ITGAM	3684	broad.mit.edu	37	16	31283251	31283251	+	Silent	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31283251G>C	uc002ebr.2	+	c.642G>C	c.(640-642)CTG>CTC	p.L214L	ITGAM_uc002ebq.2_Silent_p.L214L	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	214	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.261438	124.527697	132.408108	40	113	KEEP	---	---	---	---	capture		Silent	SNP	31283251	31283251	8191	16	G	C	C	C	600	47	ITGAM	3	3
ZNF267	10308	broad.mit.edu	37	16	31926644	31926644	+	Silent	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31926644C>G	uc002ecs.3	+	c.1074C>G	c.(1072-1074)GTC>GTG	p.V358V		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.261194	335.588947	356.3361	105	297	KEEP	---	---	---	---	capture		Silent	SNP	31926644	31926644	18398	16	C	G	G	G	405	32	ZNF267	3	3
IRX6	79190	broad.mit.edu	37	16	55360397	55360397	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55360397C>A	uc002ehy.2	+	c.195C>A	c.(193-195)GGC>GGA	p.G65G	IRX6_uc002ehx.2_Silent_p.G65G|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	65					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(5)|ovary(1)	6														0.173913	8.090723	10.395303	4	19	KEEP	---	---	---	---	capture		Silent	SNP	55360397	55360397	8152	16	C	A	A	A	340	27	IRX6	1	1
MMP2	4313	broad.mit.edu	37	16	55532290	55532290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55532290C>T	uc002ehz.3	+	c.1699C>T	c.(1699-1701)CGA>TGA	p.R567*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R491*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R517*|MMP2_uc002eia.3_Nonsense_Mutation_p.R64*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	567	Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(3)|large_intestine(3)|lung(1)|central_nervous_system(1)|kidney(1)	9		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)					275				0.12931	17.863306	33.36985	15	101	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55532290	55532290	10048	16	C	T	T	T	347	27	MMP2	5	1
COG4	25839	broad.mit.edu	37	16	70517776	70517776	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70517776T>C	uc002ezc.2	-	c.1807A>G	c.(1807-1809)AAA>GAA	p.K603E	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.K59E|COG4_uc010cfu.2_Non-coding_Transcript|COG4_uc002ezd.2_Missense_Mutation_p.K582E|COG4_uc002eze.2_Missense_Mutation_p.K297E	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	599					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)												0.287671	113.390402	119.293862	42	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70517776	70517776	3798	16	T	C	C	C	819	63	COG4	4	4
GRIN2A	2903	broad.mit.edu	37	16	9857046	9857046	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9857046C>T	uc002czo.3	-	c.4355G>A	c.(4354-4356)CGC>CAC	p.R1452H	GRIN2A_uc010uym.1_Missense_Mutation_p.R1452H|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1452	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.131579	18.647432	33.688986	15	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9857046	9857046	7058	16	C	T	T	T	351	27	GRIN2A	1	1
MYH2	4620	broad.mit.edu	37	17	10426663	10426663	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10426663G>C	uc010coi.2	-	c.5539C>G	c.(5539-5541)CGC>GGC	p.R1847G	MYH2_uc002gmp.3_Missense_Mutation_p.R1847G|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1847	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.138889	42.02536	60.155198	20	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10426663	10426663	10430	17	G	C	C	C	494	38	MYH2	3	3
FBXO47	494188	broad.mit.edu	37	17	37099079	37099079	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37099079C>A	uc002hrc.2	-	c.1035G>T	c.(1033-1035)GTG>GTT	p.V345V		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	345											0														0.456	158.047888	158.259966	57	68	KEEP	---	---	---	---	capture		Silent	SNP	37099079	37099079	5993	17	C	A	A	A	366	29	FBXO47	2	2
MED1	5469	broad.mit.edu	37	17	37565089	37565089	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37565089T>C	uc002hrv.3	-	c.3385A>G	c.(3385-3387)AGC>GGC	p.S1129G	MED1_uc010wee.1_Missense_Mutation_p.S957G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1129	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		Pancreas(21;279 768 2492 4877 24026)								0.155556	15.800915	20.894693	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37565089	37565089	9814	17	T	C	C	C	689	53	MED1	4	4
IGF2BP1	10642	broad.mit.edu	37	17	47075134	47075134	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47075134C>T	uc002iom.2	+	c.27C>T	c.(25-27)CTC>CTT	p.L9L	IGF2BP1_uc010dbj.2_Silent_p.L9L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	9	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.162162	31.574016	43.626604	18	93	KEEP	---	---	---	---	capture		Silent	SNP	47075134	47075134	7874	17	C	T	T	T	366	29	IGF2BP1	2	2
MYST2	11143	broad.mit.edu	37	17	47904793	47904793	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47904793G>T	uc002ipm.2	+	c.1765G>T	c.(1765-1767)GCC>TCC	p.A589S	MYST2_uc010wma.1_Missense_Mutation_p.A450S|MYST2_uc010wmb.1_Missense_Mutation_p.A479S|MYST2_uc010wmc.1_Missense_Mutation_p.A420S|MYST2_uc010wmd.1_Missense_Mutation_p.A433S|MYST2_uc010wme.1_Missense_Mutation_p.A403S|MYST2_uc010wmf.1_Missense_Mutation_p.A254S|MYST2_uc010wmg.1_Missense_Mutation_p.A144S	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	589					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3									p.A589S(NCIH1184-Tumor)	227				0.302632	57.697516	60.340462	23	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47904793	47904793	10498	17	G	T	T	T	546	42	MYST2	2	2
KIF2B	84643	broad.mit.edu	37	17	51901330	51901330	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901330C>T	uc002iua.2	+	c.936C>T	c.(934-936)ACC>ACT	p.T312T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	312	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.424837	201.16119	201.912159	65	88	KEEP	---	---	---	---	capture		Silent	SNP	51901330	51901330	8609	17	C	T	T	T	262	21	KIF2B	2	2
DCAF7	10238	broad.mit.edu	37	17	61657205	61657205	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61657205G>T	uc002jbc.2	+	c.429G>T	c.(427-429)ACG>ACT	p.T143T	DCAF7_uc002jbb.2_Non-coding_Transcript|DCAF7_uc010wpn.1_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	143	WD 2.				multicellular organismal development|protein ubiquitination	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1														0.151163	25.018394	35.043042	13	73	KEEP	---	---	---	---	capture		Silent	SNP	61657205	61657205	4446	17	G	T	T	T	470	37	DCAF7	1	1
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577108C>A	uc002gim.2	-	c.830G>T	c.(829-831)TGT>TTT	p.C277F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	277	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.C277F(20)|p.C277Y(15)|p.0?(6)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.V274fs(SCC9-Tumor)|p.C277F(SW1271-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.325	36.759567	37.847435	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577108	7577108	16923	17	C	A	A	A	221	17	TP53	2	2
ESCO1	114799	broad.mit.edu	37	18	19110322	19110322	+	Silent	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19110322A>G	uc002kth.1	-	c.2505T>C	c.(2503-2505)AAT>AAC	p.N835N	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	835					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0														0.084034	3.95776	24.867775	10	109	KEEP	---	---	---	---	capture		Silent	SNP	19110322	19110322	5441	18	A	G	G	G	102	8	ESCO1	4	4
LAMA3	3909	broad.mit.edu	37	18	21513860	21513860	+	Silent	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21513860T>A	uc002kuq.2	+	c.8823T>A	c.(8821-8823)TCT>TCA	p.S2941S	LAMA3_uc002kur.2_Silent_p.S2885S|LAMA3_uc002kus.3_Silent_p.S1332S|LAMA3_uc002kut.3_Silent_p.S1276S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2941					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.182609	42.505875	53.385321	21	94	KEEP	---	---	---	---	capture		Silent	SNP	21513860	21513860	8930	18	T	A	A	A	678	53	LAMA3	3	3
ELAVL3	1995	broad.mit.edu	37	19	11569323	11569323	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11569323G>T	uc002mry.1	-	c.437C>A	c.(436-438)TCC>TAC	p.S146Y	ELAVL3_uc002mrx.1_Missense_Mutation_p.S146Y	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	146	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)	2														0.40411	147.245536	148.431231	59	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11569323	11569323	5242	19	G	T	T	T	533	41	ELAVL3	2	2
GIPC1	10755	broad.mit.edu	37	19	14591185	14591185	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14591185C>A	uc002myt.2	-	c.587G>T	c.(586-588)CGG>CTG	p.R196L	GIPC1_uc002myu.2_Missense_Mutation_p.R196L|GIPC1_uc002myv.2_Missense_Mutation_p.R99L|GIPC1_uc002myw.2_Missense_Mutation_p.R99L|GIPC1_uc002myx.2_Missense_Mutation_p.R196L|GIPC1_uc002myy.2_Missense_Mutation_p.R99L	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	196	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						Pancreas(33;78 923 2910 41023 52850)						OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.455882	93.217611	93.332705	31	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14591185	14591185	6660	19	C	A	A	A	299	23	GIPC1	1	1
C19orf35	374872	broad.mit.edu	37	19	2276472	2276472	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2276472G>T	uc002lvn.2	-	c.629C>A	c.(628-630)GCG>GAG	p.A210E	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	210										pancreas(1)	1				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)										0.3	13.537961	14.255493	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2276472	2276472	1983	19	G	T	T	T	494	38	C19orf35	1	1
RYR1	6261	broad.mit.edu	37	19	38949877	38949877	+	Silent	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38949877C>G	uc002oit.2	+	c.2259C>G	c.(2257-2259)TCC>TCG	p.S753S	RYR1_uc002oiu.2_Silent_p.S753S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	753	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.235294	26.271974	29.543225	12	39	KEEP	---	---	---	---	capture		Silent	SNP	38949877	38949877	14248	19	C	G	G	G	262	21	RYR1	3	3
EEF2	1938	broad.mit.edu	37	19	3976626	3976627	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3976626_3976627CC>AA	uc002lze.2	-	c.2502_2503GG>TT	c.(2500-2505)GTGGTG>GTTTTG	p.V835L		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	835						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		Colon(165;1804 1908 4071 6587 18799)								0.5	20.369683	20.369683	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	3976626	3976627	5116	19	CC	AA	AA	AA	234	18	EEF2	2	2
ARHGEF1	9138	broad.mit.edu	37	19	42399487	42399487	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42399487G>A	uc002osa.2	+	c.988G>A	c.(988-990)GGG>AGG	p.G330R	ARHGEF1_uc002orw.1_Missense_Mutation_p.G315R|ARHGEF1_uc002orx.2_Missense_Mutation_p.G315R|ARHGEF1_uc002ory.2_Missense_Mutation_p.G282R|ARHGEF1_uc002orz.2_Missense_Mutation_p.G153R|ARHGEF1_uc002osb.2_Missense_Mutation_p.G297R|ARHGEF1_uc002osc.2_Missense_Mutation_p.G9R|ARHGEF1_uc002osd.2_5'Flank	NM_199002	NP_945353	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	315					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)										0.095238	6.824185	27.529221	12	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42399487	42399487	907	19	G	A	A	A	507	39	ARHGEF1	1	1
PSG7	5676	broad.mit.edu	37	19	43441198	43441198	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43441198G>T	uc002ovl.3	-	c.31C>A	c.(31-33)CAG>AAG	p.Q11K	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.Q11K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	11					female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.44697	187.009618	187.332783	59	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43441198	43441198	13113	19	G	T	T	T	624	48	PSG7	2	2
PSG11	5680	broad.mit.edu	37	19	43523176	43523176	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43523176G>T	uc002ovn.1	-	c.473C>A	c.(472-474)TCC>TAC	p.S158Y	PSG11_uc002ouw.2_Missense_Mutation_p.S158Y|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.S158Y|PSG11_uc002ovm.1_Missense_Mutation_p.S152Y|PSG11_uc002ovo.1_Missense_Mutation_p.S30Y|PSG11_uc002ovp.1_Missense_Mutation_p.S30Y	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	152	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.199115	88.030638	107.085722	45	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43523176	43523176	13107	19	G	T	T	T	533	41	PSG11	2	2
EHD2	30846	broad.mit.edu	37	19	48244176	48244176	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48244176G>T	uc002phj.3	+	c.1119G>T	c.(1117-1119)TCG>TCT	p.S373S	EHD2_uc010xyu.1_Silent_p.S237S|EHD2_uc010xyv.1_Silent_p.S56S	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	373					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)	1		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)										0.363636	49.41203	50.121697	16	28	KEEP	---	---	---	---	capture		Silent	SNP	48244176	48244176	5167	19	G	T	T	T	483	38	EHD2	1	1
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56539800G>C	uc002qmj.2	+	c.2201G>C	c.(2200-2202)CGG>CCG	p.R734P	NLRP5_uc002qmi.2_Missense_Mutation_p.R715P	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	734	LRR 2.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.412766	318.5392	320.098678	97	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56539800	56539800	10883	19	G	C	C	C	507	39	NLRP5	3	3
OR6N2	81442	broad.mit.edu	37	1	158747139	158747139	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158747139C>A	uc010pir.1	-	c.287G>T	c.(286-288)GGA>GTA	p.G96V		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)													0.308824	154.345165	160.992554	63	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158747139	158747139	11617	1	C	A	A	A	390	30	OR6N2	2	2
PADI3	51702	broad.mit.edu	37	1	17603314	17603314	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17603314T>C	uc001bai.2	+	c.1498T>C	c.(1498-1500)TTC>CTC	p.F500L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	500					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)									0.148148	8.685631	11.890885	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17603314	17603314	11795	1	T	C	C	C	728	56	PADI3	4	4
PADI4	23569	broad.mit.edu	37	1	17634768	17634768	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17634768C>A	uc001baj.2	+	c.51C>A	c.(49-51)GCC>GCA	p.A17A	PADI4_uc009vpc.2_Silent_p.A17A	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	17					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)									0.298851	74.417708	77.562711	26	61	KEEP	---	---	---	---	capture		Silent	SNP	17634768	17634768	11796	1	C	A	A	A	288	23	PADI4	1	1
HMCN1	83872	broad.mit.edu	37	1	186121913	186121913	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186121913G>T	uc001grq.1	+	c.14928G>T	c.(14926-14928)CGG>CGT	p.R4976R	HMCN1_uc001grs.1_Silent_p.R545R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4976	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.246094	150.097902	165.12814	63	193	KEEP	---	---	---	---	capture		Silent	SNP	186121913	186121913	7511	1	G	T	T	T	548	43	HMCN1	2	2
ADIPOR1	51094	broad.mit.edu	37	1	202912952	202912952	+	Missense_Mutation	SNP	T	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202912952T>G	uc001gyq.3	-	c.739A>C	c.(739-741)ATT>CTT	p.I247L	ADIPOR1_uc010pqd.1_Missense_Mutation_p.I171L|ADIPOR1_uc001gyr.3_Missense_Mutation_p.I46L|ADIPOR1_uc001gys.3_Missense_Mutation_p.I247L	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	247	Helical; Name=4; (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)											0.241935	43.313961	47.065746	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202912952	202912952	319	1	T	G	G	G	663	51	ADIPOR1	4	4
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210970995G>T	uc001hib.2	-	c.1770C>A	c.(1768-1770)CTC>CTA	p.L590L	KCNH1_uc001hic.2_Silent_p.L563L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	590	Cytoplasmic (Potential).|cNMP.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.338983	45.472243	46.829273	20	39	KEEP	---	---	---	---	capture		Silent	SNP	210970995	210970995	8336	1	G	T	T	T	522	41	KCNH1	2	2
RCOR3	55758	broad.mit.edu	37	1	211449715	211449715	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211449715A>T	uc010psw.1	+	c.471A>T	c.(469-471)CAA>CAT	p.Q157H	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.2_Missense_Mutation_p.Q157H|RCOR3_uc001hif.2_Missense_Mutation_p.Q157H|RCOR3_uc001hig.2_Missense_Mutation_p.Q99H	NM_001136223	NP_001129695	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform a	99	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)										0.242958	165.832328	182.940886	69	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211449715	211449715	13653	1	A	T	T	T	37	3	RCOR3	3	3
USH2A	7399	broad.mit.edu	37	1	216246606	216246606	+	Missense_Mutation	SNP	C	A	A	rs111033409		TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216246606C>A	uc001hku.1	-	c.5609G>T	c.(5608-5610)CGG>CTG	p.R1870L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1870	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.258065	43.472697	46.760099	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216246606	216246606	17598	1	C	A	A	A	299	23	USH2A	1	1
ACTN2	88	broad.mit.edu	37	1	236891000	236891000	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236891000T>A	uc001hyf.2	+	c.559T>A	c.(559-561)TGT>AGT	p.C187S	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.C187S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	187	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.214286	47.519962	54.909153	21	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236891000	236891000	206	1	T	A	A	A	715	55	ACTN2	3	3
RYR2	6262	broad.mit.edu	37	1	237777623	237777623	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237777623A>G	uc001hyl.1	+	c.5195A>G	c.(5194-5196)GAG>GGG	p.E1732G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1732	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.098361	6.218375	16.05158	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237777623	237777623	14249	1	A	G	G	G	143	11	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237880547G>T	uc001hyl.1	+	c.10373G>T	c.(10372-10374)CGG>CTG	p.R3458L	RYR2_uc010pxz.1_Missense_Mutation_p.R413L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.243902	25.51186	27.981001	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237880547	237880547	14249	1	G	T	T	T	507	39	RYR2	1	1
RGS7	6000	broad.mit.edu	37	1	240979707	240979707	+	Silent	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240979707A>G	uc001hyv.2	-	c.693T>C	c.(691-693)TAT>TAC	p.Y231Y	RGS7_uc010pyh.1_Silent_p.Y205Y|RGS7_uc010pyj.1_Silent_p.Y147Y|RGS7_uc001hyu.2_Silent_p.Y231Y|RGS7_uc009xgn.1_Silent_p.Y178Y|RGS7_uc001hyw.2_Silent_p.Y231Y|RGS7_uc001hyt.2_Silent_p.Y63Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	231					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)											0.29078	251.351766	262.401244	82	200	KEEP	---	---	---	---	capture		Silent	SNP	240979707	240979707	13784	1	A	G	G	G	102	8	RGS7	4	4
MYOM3	127294	broad.mit.edu	37	1	24434529	24434529	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24434529C>T	uc001bin.3	-	c.196G>A	c.(196-198)GCC>ACC	p.A66T	MYOM3_uc001bio.2_Missense_Mutation_p.A66T|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	66										ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)										0.244186	47.329226	52.461428	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24434529	24434529	10488	1	C	T	T	T	351	27	MYOM3	1	1
OR2L2	26246	broad.mit.edu	37	1	248201977	248201977	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248201977C>A	uc001idw.2	+	c.408C>A	c.(406-408)AGC>AGA	p.S136R	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	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;0.0278)											0.269737	208.009313	222.558675	82	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248201977	248201977	11413	1	C	A	A	A	324	25	OR2L2	2	2
OR2T3	343173	broad.mit.edu	37	1	248637257	248637257	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637257G>T	uc001iel.1	+	c.606G>T	c.(604-606)ACG>ACT	p.T202T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.457447	279.00467	279.290196	86	102	KEEP	---	---	---	---	capture		Silent	SNP	248637257	248637257	11429	1	G	T	T	T	483	38	OR2T3	1	1
CATSPER4	378807	broad.mit.edu	37	1	26524847	26524847	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26524847C>T	uc010oez.1	+	c.749C>T	c.(748-750)GCG>GTG	p.A250V	CATSPER4_uc010oey.1_Missense_Mutation_p.A72V|CATSPER4_uc009vsf.2_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	250					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)										0.079692	-3.515037	66.558004	31	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26524847	26524847	2809	1	C	T	T	T	351	27	CATSPER4	1	1
HFM1	164045	broad.mit.edu	37	1	91816323	91816323	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91816323G>T	uc001doa.3	-	c.2178C>A	c.(2176-2178)ATC>ATA	p.I726I	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.I405I|HFM1_uc010osv.1_Silent_p.I410I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.157895	31.870414	44.598851	18	96	KEEP	---	---	---	---	capture		Silent	SNP	91816323	91816323	7366	1	G	T	T	T	577	45	HFM1	2	2
NCOA6	23054	broad.mit.edu	37	20	33338167	33338167	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33338167C>A	uc002xav.2	-	c.1831G>T	c.(1831-1833)GGC>TGC	p.G611C	NCOA6_uc002xaw.2_Missense_Mutation_p.G611C	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	611	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.164179	18.377649	25.559074	11	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33338167	33338167	10632	20	C	A	A	A	312	24	NCOA6	2	2
ADRA1D	146	broad.mit.edu	37	20	4228878	4228878	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4228878C>T	uc002wkr.2	-	c.727G>A	c.(727-729)GAG>AAG	p.E243K		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	243	Extracellular (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)									0.538462	22.026109	22.042886	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4228878	4228878	337	20	C	T	T	T	403	31	ADRA1D	1	1
ZNF334	55713	broad.mit.edu	37	20	45130940	45130940	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45130940C>A	uc002xsc.2	-	c.1038G>T	c.(1036-1038)GAG>GAT	p.E346D	ZNF334_uc002xsa.2_Missense_Mutation_p.E369D|ZNF334_uc002xsb.2_Missense_Mutation_p.E308D|ZNF334_uc002xsd.2_Missense_Mutation_p.E308D|ZNF334_uc010ghl.2_Missense_Mutation_p.E345D	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.186589	121.782475	153.370259	64	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45130940	45130940	18443	20	C	A	A	A	415	32	ZNF334	2	2
FAM65C	140876	broad.mit.edu	37	20	49218951	49218951	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49218951G>A	uc010zyt.1	-	c.1317C>T	c.(1315-1317)CAC>CAT	p.H439H	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.2_Silent_p.H435H|FAM65C_uc002xvn.1_Silent_p.H435H	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	435										ovary(2)	2														0.109589	5.883237	16.871735	8	65	KEEP	---	---	---	---	capture		Silent	SNP	49218951	49218951	5824	20	G	A	A	A	516	40	FAM65C	1	1
C20orf54	113278	broad.mit.edu	37	20	746119	746119	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:746119C>T	uc002wed.3	-	c.300G>A	c.(298-300)CTG>CTA	p.L100L	C20orf54_uc002wee.2_Silent_p.L100L	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	100	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2														0.4	16.245587	16.377165	6	9	KEEP	---	---	---	---	capture		Silent	SNP	746119	746119	2194	20	C	T	T	T	262	21	C20orf54	2	2
PLCB4	5332	broad.mit.edu	37	20	9457374	9457374	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9457374C>A	uc002wne.2	+	c.3470C>A	c.(3469-3471)TCC>TAC	p.S1157Y	PLCB4_uc010gbx.2_Intron|PLCB4_uc002wnf.2_Intron|PLCB4_uc002wnh.2_Intron	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	490					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.396825	69.657793	70.245811	25	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9457374	9457374	12456	20	C	A	A	A	390	30	PLCB4	2	2
MORC3	23515	broad.mit.edu	37	21	37721643	37721643	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37721643T>C	uc002yvi.2	+	c.1040T>C	c.(1039-1041)ATA>ACA	p.I347T		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	347					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2														0.135417	23.735087	36.280439	13	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37721643	37721643	10094	21	T	C	C	C	637	49	MORC3	4	4
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:44524456G>A	uc002zda.1	-	c.101C>T	c.(100-102)TCT>TTT	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	34	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0														0.285714	74.609623	78.360827	26	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44524456	44524456	17378	21	G	A	A	A	429	33	U2AF1	2	2
POTEH	23784	broad.mit.edu	37	22	16287281	16287281	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287281T>A	uc010gqp.2	-	c.605A>T	c.(604-606)GAC>GTC	p.D202V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.D37V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	202	ANK 1.										0														0.151515	33.615584	48.967317	20	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287281	16287281	12697	22	T	A	A	A	754	58	POTEH	3	3
BCR	613	broad.mit.edu	37	22	23630285	23630285	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23630285G>T	uc002zww.2	+	c.2528G>T	c.(2527-2529)AGT>ATT	p.S843I	BCR_uc002zwx.2_Missense_Mutation_p.S843I|BCR_uc011aiy.1_Missense_Mutation_p.S432I|BCR_uc002zwy.1_Missense_Mutation_p.S129I	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	843	PH.				protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)	10										1115				0.235294	46.453492	51.903824	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23630285	23630285	1410	22	G	T	T	T	468	36	BCR	2	2
GGT5	2687	broad.mit.edu	37	22	24621594	24621594	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24621594C>A	uc002zzp.3	-	c.1256G>T	c.(1255-1257)CGG>CTG	p.R419L	GGT5_uc002zzo.3_Missense_Mutation_p.R419L|GGT5_uc002zzr.3_Missense_Mutation_p.R387L|GGT5_uc002zzq.3_Missense_Mutation_p.R387L|GGT5_uc011ajm.1_Missense_Mutation_p.R342L	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform a	419	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)	2														0.193548	13.932156	16.648946	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24621594	24621594	6630	22	C	A	A	A	299	23	GGT5	1	1
SLC5A1	6523	broad.mit.edu	37	22	32439311	32439311	+	Silent	SNP	C	A	A	rs33915717	byFrequency	TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32439311C>A	uc003amc.2	+	c.43C>A	c.(43-45)CGG>AGG	p.R15R		NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	15	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding				0														0.228571	19.031753	21.363126	8	27	KEEP	---	---	---	---	capture		Silent	SNP	32439311	32439311	15158	22	C	A	A	A	295	23	SLC5A1	1	1
BRD1	23774	broad.mit.edu	37	22	50192227	50192227	+	Silent	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50192227C>G	uc003biu.3	-	c.1764G>C	c.(1762-1764)GCG>GCC	p.A588A	BRD1_uc011arf.1_Silent_p.A183A|BRD1_uc011arg.1_Silent_p.A642A|BRD1_uc003biv.2_Silent_p.A588A|BRD1_uc011arh.1_Silent_p.A588A	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	588	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.1	6.338551	14.327734	5	45	KEEP	---	---	---	---	capture		Silent	SNP	50192227	50192227	1532	22	C	G	G	G	340	27	BRD1	3	3
NCKAP5	344148	broad.mit.edu	37	2	133540623	133540623	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133540623G>T	uc002ttp.2	-	c.3761C>A	c.(3760-3762)TCC>TAC	p.S1254Y	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1254							protein binding				0														0.168919	36.660713	52.055941	25	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133540623	133540623	10622	2	G	T	T	T	533	41	NCKAP5	2	2
SLC4A10	57282	broad.mit.edu	37	2	162830770	162830770	+	Silent	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162830770T>C	uc002ubx.3	+	c.3171T>C	c.(3169-3171)AGT>AGC	p.S1057S	SLC4A10_uc002uby.3_Silent_p.S1027S|SLC4A10_uc010zcs.1_Silent_p.S1038S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1057	Cytoplasmic (Potential).			SM -> CV (in Ref. 1; BAB18301).	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.28	23.616997	24.703113	7	18	KEEP	---	---	---	---	capture		Silent	SNP	162830770	162830770	15148	2	T	C	C	C	738	57	SLC4A10	4	4
TTN	7273	broad.mit.edu	37	2	179577475	179577475	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179577475C>T	uc010zfg.1	-	c.23545G>A	c.(23545-23547)GTT>ATT	p.V7849I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4510I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3492										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.255319	96.727599	104.388768	36	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179577475	179577475	17290	2	C	T	T	T	260	20	TTN	2	2
SESTD1	91404	broad.mit.edu	37	2	179986618	179986618	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179986618G>C	uc002uni.3	-	c.1321C>G	c.(1321-1323)CTC>GTC	p.L441V	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	441	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.286822	122.520971	127.779736	37	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179986618	179986618	14615	2	G	C	C	C	429	33	SESTD1	3	3
PDE1A	5136	broad.mit.edu	37	2	183095827	183095827	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183095827G>T	uc002uoq.1	-	c.497C>A	c.(496-498)GCC>GAC	p.A166D	PDE1A_uc010zfp.1_Missense_Mutation_p.A62D|PDE1A_uc010zfq.1_Missense_Mutation_p.A166D|PDE1A_uc002uor.2_Missense_Mutation_p.A150D|PDE1A_uc002uos.2_Missense_Mutation_p.A166D|PDE1A_uc002uou.2_Missense_Mutation_p.A132D	NM_005019	NP_005010	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 1	166					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.061)											0.171053	48.952307	64.508617	26	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183095827	183095827	12054	2	G	T	T	T	546	42	PDE1A	2	2
NDUFS1	4719	broad.mit.edu	37	2	206992595	206992595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206992595G>A	uc010ziq.1	-	c.1852C>T	c.(1852-1854)CAG>TAG	p.Q618*	NDUFS1_uc002vbe.2_Nonsense_Mutation_p.Q604*|NDUFS1_uc010zir.1_Nonsense_Mutation_p.Q568*|NDUFS1_uc010zis.1_Nonsense_Mutation_p.Q547*|NDUFS1_uc010zit.1_Nonsense_Mutation_p.Q493*|NDUFS1_uc010ziu.1_Nonsense_Mutation_p.Q488*	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	604					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)									0.349593	117.282964	119.740364	43	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	206992595	206992595	10690	2	G	A	A	A	585	45	NDUFS1	5	2
UNC80	285175	broad.mit.edu	37	2	210642106	210642106	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210642106G>T	uc010zjc.1	+	c.423G>T	c.(421-423)TGG>TGT	p.W141C	UNC80_uc002vdj.1_Missense_Mutation_p.W141C	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	141						integral to membrane					0														0.18254	40.809252	52.802004	23	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210642106	210642106	17554	2	G	T	T	T	559	43	UNC80	2	2
DIS3L2	129563	broad.mit.edu	37	2	233195486	233195486	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233195486G>T	uc010fxz.2	+	c.2010G>T	c.(2008-2010)CAG>CAT	p.Q670H	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	670							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)										0.245033	84.491462	93.440753	37	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233195486	233195486	4716	2	G	T	T	T	451	35	DIS3L2	2	2
BIRC6	57448	broad.mit.edu	37	2	32688372	32688372	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32688372C>T	uc010ezu.2	+	c.4864C>T	c.(4864-4866)CAT>TAT	p.H1622Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1622					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.2	19.348073	23.116078	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32688372	32688372	1463	2	C	T	T	T	377	29	BIRC6	2	2
SOX11	6664	broad.mit.edu	37	2	5833563	5833563	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:5833563T>A	uc002qyj.2	+	c.710T>A	c.(709-711)CTG>CAG	p.L237Q		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	237						cytoplasm|nucleolus	DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)						14				0.857143	19.194655	20.013005	6	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5833563	5833563	15442	2	T	A	A	A	715	55	SOX11	3	3
DGUOK	1716	broad.mit.edu	37	2	74166086	74166086	+	Silent	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74166086A>G	uc002sjx.2	+	c.192A>G	c.(190-192)GAA>GAG	p.E64E	DGUOK_uc002sjy.2_Silent_p.E64E|DGUOK_uc002sjz.2_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	deoxyguanosine kinase isoform a precursor	64					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor				0														0.130952	43.93779	66.178141	22	146	KEEP	---	---	---	---	capture		Silent	SNP	74166086	74166086	4654	2	A	G	G	G	50	4	DGUOK	4	4
RABL3	285282	broad.mit.edu	37	3	120417347	120417347	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120417347G>C	uc003edx.2	-	c.457C>G	c.(457-459)CAT>GAT	p.H153D		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	153	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)										0.169082	182.579329	225.49864	70	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120417347	120417347	13431	3	G	C	C	C	585	45	RABL3	3	3
STXBP5L	9515	broad.mit.edu	37	3	120876387	120876387	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120876387C>G	uc003eec.3	+	c.790C>G	c.(790-792)CAG>GAG	p.Q264E	STXBP5L_uc011bji.1_Missense_Mutation_p.Q264E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	264	WD 5.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.252632	75.553257	80.832453	24	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120876387	120876387	15877	3	C	G	G	G	221	17	STXBP5L	3	3
HCLS1	3059	broad.mit.edu	37	3	121355331	121355331	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121355331C>T	uc003eeh.3	-	c.571G>A	c.(571-573)GCC>ACC	p.A191T	HCLS1_uc011bjj.1_Missense_Mutation_p.A154T|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	191	Cortactin 4; truncated.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|regulation of transcription, DNA-dependent|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)										0.279279	73.968307	78.837925	31	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121355331	121355331	7277	3	C	T	T	T	325	25	HCLS1	2	2
ZIC1	7545	broad.mit.edu	37	3	147130409	147130409	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147130409C>A	uc003ewe.2	+	c.1087C>A	c.(1087-1089)CTT>ATT	p.L363I		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	363	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.159664	30.249231	43.381564	19	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147130409	147130409	18269	3	C	A	A	A	416	32	ZIC1	2	2
FGD5	152273	broad.mit.edu	37	3	14964604	14964604	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14964604G>A	uc003bzc.2	+	c.3859G>A	c.(3859-3861)GAC>AAC	p.D1287N	FGD5_uc011avk.1_Missense_Mutation_p.D1287N|FGD5_uc003bzd.2_Missense_Mutation_p.D365N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1287	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.133333	10.55618	18.388616	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14964604	14964604	6073	3	G	A	A	A	533	41	FGD5	2	2
GPR149	344758	broad.mit.edu	37	3	154147302	154147302	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154147302A>T	uc003faa.2	-	c.103T>A	c.(103-105)TAT>AAT	p.Y35N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	35	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.12	20.446741	41.695634	18	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154147302	154147302	6929	3	A	T	T	T	195	15	GPR149	3	3
SI	6476	broad.mit.edu	37	3	164756867	164756867	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164756867G>A	uc003fei.2	-	c.2300C>T	c.(2299-2301)TCT>TTT	p.S767F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	767	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.185185	11.357511	13.867411	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164756867	164756867	14792	3	G	A	A	A	429	33	SI	2	2
CPN2	1370	broad.mit.edu	37	3	194062055	194062055	+	Silent	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194062055C>T	uc003fts.2	-	c.1377G>A	c.(1375-1377)CCG>CCA	p.P459P		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	459					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.106918	13.972747	38.347992	17	142	KEEP	---	---	---	---	capture		Silent	SNP	194062055	194062055	3948	3	C	T	T	T	288	23	CPN2	1	1
ZNF385D	79750	broad.mit.edu	37	3	21478677	21478677	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:21478677G>T	uc003cce.2	-	c.458C>A	c.(457-459)CCA>CAA	p.P153Q	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	153	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(1)	3														0.095588	6.567098	28.890874	13	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21478677	21478677	18470	3	G	T	T	T	611	47	ZNF385D	2	2
SCN10A	6336	broad.mit.edu	37	3	38798230	38798230	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38798230C>A	uc003ciq.2	-	c.1225G>T	c.(1225-1227)GAT>TAT	p.D409Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	409					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.195531	70.210385	85.692298	35	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38798230	38798230	14394	3	C	A	A	A	377	29	SCN10A	2	2
SCN10A	6336	broad.mit.edu	37	3	38835490	38835490	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38835490G>A	uc003ciq.2	-	c.12C>T	c.(10-12)CCC>CCT	p.P4P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	4					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.174129	74.993613	95.143123	35	166	KEEP	---	---	---	---	capture		Silent	SNP	38835490	38835490	14394	3	G	A	A	A	600	47	SCN10A	2	2
COL7A1	1294	broad.mit.edu	37	3	48614316	48614316	+	Splice_Site_SNP	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48614316C>T	uc003ctz.2	-	c.5604_splice	c.e66+1	p.E1868_splice		NM_000094	NP_000085			alpha 1 type VII collagen precursor						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.204301	40.168007	47.719252	19	74	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48614316	48614316	3842	3	C	T	T	T	260	20	COL7A1	5	2
CELSR3	1951	broad.mit.edu	37	3	48689456	48689456	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48689456G>A	uc003cuf.1	-	c.5987C>T	c.(5986-5988)TCT>TTT	p.S1996F	CELSR3_uc010hkg.2_5'UTR|CELSR3_uc003cul.2_Missense_Mutation_p.S1926F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1926	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.285714	16.640824	17.506421	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48689456	48689456	3356	3	G	A	A	A	429	33	CELSR3	2	2
POU1F1	5449	broad.mit.edu	37	3	87311358	87311358	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87311358G>T	uc010hoj.1	-	c.545C>A	c.(544-546)GCC>GAC	p.A182D	POU1F1_uc003dqq.1_Missense_Mutation_p.A156D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	156	POU-specific.				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)										0.112782	12.908447	32.532278	15	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87311358	87311358	12699	3	G	T	T	T	546	42	POU1F1	2	2
ENPEP	2028	broad.mit.edu	37	4	111480849	111480849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111480849G>T	uc003iab.3	+	c.2689G>T	c.(2689-2691)GAG>TAG	p.E897*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	897	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.164835	23.254912	32.978443	15	76	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111480849	111480849	5321	4	G	T	T	T	429	33	ENPEP	5	2
ANK2	287	broad.mit.edu	37	4	114279055	114279055	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114279055C>A	uc003ibe.3	+	c.9281C>A	c.(9280-9282)CCA>CAA	p.P3094Q	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P396Q|ANK2_uc011cgb.1_Missense_Mutation_p.P3109Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3061					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.231707	44.281534	49.690147	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114279055	114279055	624	4	C	A	A	A	273	21	ANK2	2	2
FAT4	79633	broad.mit.edu	37	4	126389833	126389833	+	Silent	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126389833G>C	uc003ifj.3	+	c.12066G>C	c.(12064-12066)CGG>CGC	p.R4022R	FAT4_uc011cgp.1_Silent_p.R2285R|FAT4_uc003ifi.1_Silent_p.R1500R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4022	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.103659	15.992432	41.607355	17	147	KEEP	---	---	---	---	capture		Silent	SNP	126389833	126389833	5928	4	G	C	C	C	548	43	FAT4	3	3
INPP4B	8821	broad.mit.edu	37	4	143033741	143033741	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143033741C>G	uc003iix.3	-	c.2230G>C	c.(2230-2232)GTA>CTA	p.V744L	INPP4B_uc003iiw.3_Missense_Mutation_p.V744L|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.V559L|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	744					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.165	80.519023	101.869119	33	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143033741	143033741	8054	4	C	G	G	G	260	20	INPP4B	3	3
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	T	T	rs111557030		TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155249289G>T	uc003inw.2	-	c.2609C>A	c.(2608-2610)CCT>CAT	p.P870H	DCHS2_uc003inx.2_Missense_Mutation_p.P1325H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.245989	112.951007	123.941806	46	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155249289	155249289	4459	4	G	T	T	T	455	35	DCHS2	2	2
GALNTL6	442117	broad.mit.edu	37	4	173734827	173734827	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173734827C>A	uc003isv.2	+	c.876C>A	c.(874-876)ATC>ATA	p.I292I		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	292	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.310811	54.050865	56.382344	23	51	KEEP	---	---	---	---	capture		Silent	SNP	173734827	173734827	6489	4	C	A	A	A	382	30	GALNTL6	2	2
WHSC1	7468	broad.mit.edu	37	4	1902791	1902791	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1902791C>T	uc003gdz.3	+	c.410C>T	c.(409-411)CCT>CTT	p.P137L	WHSC1_uc003geb.3_Missense_Mutation_p.P137L|WHSC1_uc003gec.3_Missense_Mutation_p.P137L|WHSC1_uc003ged.3_Missense_Mutation_p.P137L|WHSC1_uc003gee.3_Non-coding_Transcript|WHSC1_uc003gef.3_Non-coding_Transcript|WHSC1_uc003gdx.2_Missense_Mutation_p.P137L|WHSC1_uc003gdy.1_Missense_Mutation_p.P137L|WHSC1_uc010icd.1_Missense_Mutation_p.P137L|WHSC1_uc003gea.1_Missense_Mutation_p.P137L|WHSC1_uc010ice.1_Missense_Mutation_p.P137L|WHSC1_uc003geg.1_Missense_Mutation_p.P137L|WHSC1_uc003geh.1_Missense_Mutation_p.P137L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	137					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)						355				0.169014	26.954679	34.318282	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1902791	1902791	17936	4	C	T	T	T	312	24	WHSC1	2	2
SLC34A2	10568	broad.mit.edu	37	4	25674768	25674768	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25674768A>T	uc003grr.2	+	c.1108A>T	c.(1108-1110)ATA>TTA	p.I370L	SLC34A2_uc003grs.2_Missense_Mutation_p.I369L|SLC34A2_uc010iev.2_Missense_Mutation_p.I369L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	370	Helical; Name=M4; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(1)|kidney(1)	2		Breast(46;0.0503)												0.125	26.352349	46.137731	18	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25674768	25674768	15065	4	A	T	T	T	104	8	SLC34A2	3	3
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55156545G>C	uc003han.3	+	c.2946G>C	c.(2944-2946)GTG>GTC	p.V982V	PDGFRA_uc003haa.2_Silent_p.V742V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	982	Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.146199	46.753245	67.338936	25	146	KEEP	---	---	---	---	capture		Silent	SNP	55156545	55156545	12082	4	G	C	C	C	600	47	PDGFRA	3	3
TMPRSS11D	9407	broad.mit.edu	37	4	68699064	68699064	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68699064C>G	uc003hdq.2	-	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.E67Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	184	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.067729	-3.431684	45.12008	17	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68699064	68699064	16782	4	C	G	G	G	377	29	TMPRSS11D	3	3
PTPN13	5783	broad.mit.edu	37	4	87730997	87730997	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87730997G>A	uc003hpy.2	+	c.7174G>A	c.(7174-7176)GAT>AAT	p.D2392N	PTPN13_uc003hpz.2_Missense_Mutation_p.D2387N|PTPN13_uc003hqa.2_Missense_Mutation_p.D2368N|PTPN13_uc003hqb.2_Missense_Mutation_p.D2196N	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2387	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.107383	13.282596	36.079372	16	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87730997	87730997	13237	4	G	A	A	A	585	45	PTPN13	2	2
DRD5	1816	broad.mit.edu	37	4	9784902	9784902	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784902G>A	uc003gmb.3	+	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	417	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.109589	6.646031	17.66456	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784902	9784902	4944	4	G	A	A	A	494	38	DRD5	1	1
CTNND2	1501	broad.mit.edu	37	5	11732279	11732279	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11732279G>T	uc003jfa.1	-	c.143C>A	c.(142-144)ACC>AAC	p.T48N	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	48					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.130564	58.949167	103.724745	44	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11732279	11732279	4179	5	G	T	T	T	572	44	CTNND2	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559207	140559207	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559207G>A	uc011dai.1	+	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	531	Cadherin 5.|Extracellular (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)											0.116935	31.912558	67.710537	29	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559207	140559207	11968	5	G	A	A	A	507	39	PCDHB8	1	1
FBXO38	81545	broad.mit.edu	37	5	147813274	147813274	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147813274A>T	uc003lpf.1	+	c.2831A>T	c.(2830-2832)GAC>GTC	p.D944V	FBXO38_uc003lpg.1_Missense_Mutation_p.D869V|FBXO38_uc003lph.2_Missense_Mutation_p.D699V	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	944						cytoplasm|nucleus				ovary(4)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.20765	83.446006	97.942565	38	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147813274	147813274	5983	5	A	T	T	T	130	10	FBXO38	3	3
LARP1	23367	broad.mit.edu	37	5	154169891	154169891	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154169891C>T	uc003lvp.2	+	c.443C>T	c.(442-444)TCT>TTT	p.S148F	LARP1_uc003lvo.2_Missense_Mutation_p.S71F|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	148							protein binding|RNA binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.394958	142.99455	144.145381	47	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154169891	154169891	8951	5	C	T	T	T	416	32	LARP1	2	2
GFPT2	9945	broad.mit.edu	37	5	179734239	179734239	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179734239C>A	uc003mlw.1	-	c.1611G>T	c.(1609-1611)ACG>ACT	p.T537T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	537	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)	1	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)									0.215686	23.590758	27.402538	11	40	KEEP	---	---	---	---	capture		Silent	SNP	179734239	179734239	6614	5	C	A	A	A	340	27	GFPT2	1	1
CNOT6	57472	broad.mit.edu	37	5	179976929	179976929	+	Splice_Site_SNP	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179976929A>G	uc003mlx.2	+	c.113_splice	c.e3-2	p.G38_splice	CNOT6_uc010jld.2_Splice_Site_SNP_p.G38_splice|CNOT6_uc010jle.2_Splice_Site_SNP_p.G38_splice	NM_015455	NP_056270			CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)										0.381818	309.909308	313.277411	105	170	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	179976929	179976929	3760	5	A	G	G	G	91	7	CNOT6	5	4
UGT3A1	133688	broad.mit.edu	37	5	35954564	35954564	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35954564C>A	uc003jjv.1	-	c.1312G>T	c.(1312-1314)GTG>TTG	p.V438L	UGT3A1_uc003jjw.1_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	438	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.315789	29.684003	30.832378	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35954564	35954564	17521	5	C	A	A	A	234	18	UGT3A1	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41038956	41038956	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41038956G>T	uc003jmj.3	-	c.2096C>A	c.(2095-2097)ACA>AAA	p.T699K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.T254K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	699	HEAT 8.						binding			ovary(6)|central_nervous_system(2)	8														0.318182	77.963833	80.552413	28	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41038956	41038956	7318	5	G	T	T	T	624	48	HEATR7B2	2	2
HCN1	348980	broad.mit.edu	37	5	45262097	45262097	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262097G>T	uc003jok.2	-	c.2599C>A	c.(2599-2601)CTT>ATT	p.L867I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	867	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.253165	130.473549	143.597535	60	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45262097	45262097	7278	5	G	T	T	T	429	33	HCN1	2	2
SV2C	22987	broad.mit.edu	37	5	75596736	75596736	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75596736A>G	uc003kei.1	+	c.1819A>G	c.(1819-1821)ATT>GTT	p.I607V		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	607	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)										0.415929	321.704999	323.10012	94	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75596736	75596736	15939	5	A	G	G	G	52	4	SV2C	4	4
TAAR2	9287	broad.mit.edu	37	6	132938904	132938904	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132938904G>T	uc003qdl.1	-	c.441C>A	c.(439-441)TAC>TAA	p.Y147*	TAAR2_uc010kfr.1_Nonsense_Mutation_p.Y102*	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	147	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)										0.309524	74.317875	77.033756	26	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132938904	132938904	16011	6	G	T	T	T	568	44	TAAR2	5	2
NUP153	9972	broad.mit.edu	37	6	17624952	17624952	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17624952G>A	uc011dje.1	-	c.4107C>T	c.(4105-4107)CCC>CCT	p.P1369P	NUP153_uc003ncd.1_Silent_p.P1338P|NUP153_uc010jpl.1_Silent_p.P1296P	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1338					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)							1004				0.333333	120.659243	123.611696	40	80	KEEP	---	---	---	---	capture		Silent	SNP	17624952	17624952	11160	6	G	A	A	A	548	43	NUP153	2	2
HIST1H1E	3008	broad.mit.edu	37	6	26156797	26156797	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26156797C>A	uc003ngq.2	+	c.179C>A	c.(178-180)GCC>GAC	p.A60D	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	60	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2														0.196429	22.794036	27.602519	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26156797	26156797	7411	6	C	A	A	A	338	26	HIST1H1E	2	2
BTN1A1	696	broad.mit.edu	37	6	26509306	26509306	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26509306C>A	uc003nif.3	+	c.1485C>A	c.(1483-1485)ATC>ATA	p.I495I		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	495	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)	1														0.119318	17.555358	42.602334	21	155	KEEP	---	---	---	---	capture		Silent	SNP	26509306	26509306	1593	6	C	A	A	A	382	30	BTN1A1	2	2
CCHCR1	54535	broad.mit.edu	37	6	31113225	31113225	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31113225C>A	uc003nsp.3	-	c.1739G>T	c.(1738-1740)AGC>ATC	p.S580I	CCHCR1_uc011dne.1_Missense_Mutation_p.S491I|CCHCR1_uc003nsq.3_Missense_Mutation_p.S544I|CCHCR1_uc003nsr.3_Missense_Mutation_p.S491I|CCHCR1_uc010jsk.1_Missense_Mutation_p.S491I	NM_001105564	NP_001099034	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	491					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding				0														0.253521	44.412471	48.33064	18	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31113225	31113225	3002	6	C	A	A	A	312	24	CCHCR1	2	2
LSM2	57819	broad.mit.edu	37	6	31765615	31765615	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31765615G>A	uc003nxg.2	-	c.207C>T	c.(205-207)TAC>TAT	p.Y69Y	VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding				0														0.095775	9.989007	68.118568	34	321	KEEP	---	---	---	---	capture		Silent	SNP	31765615	31765615	9432	6	G	A	A	A	516	40	LSM2	1	1
IP6K3	117283	broad.mit.edu	37	6	33696019	33696019	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33696019G>C	uc010jvf.2	-	c.258C>G	c.(256-258)AAC>AAG	p.N86K	IP6K3_uc003ofb.2_Missense_Mutation_p.N86K	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	86					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0														0.265306	39.352753	41.791924	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33696019	33696019	8091	6	G	C	C	C	568	44	IP6K3	3	3
IL17A	3605	broad.mit.edu	37	6	52052599	52052599	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52052599C>T	uc003pak.1	+	c.226C>T	c.(226-228)CTC>TTC	p.L76F		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	76					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)													0.181818	52.811533	65.374856	24	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52052599	52052599	7935	6	C	T	T	T	416	32	IL17A	2	2
MDN1	23195	broad.mit.edu	37	6	90504317	90504317	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90504317C>A	uc003pnn.1	-	c.533G>T	c.(532-534)AGC>ATC	p.S178I	MDN1_uc003pnp.1_Missense_Mutation_p.S178I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	178					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.432099	105.710585	106.036707	35	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90504317	90504317	9804	6	C	A	A	A	364	28	MDN1	2	2
EPHA7	2045	broad.mit.edu	37	6	93967241	93967241	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93967241C>A	uc003poe.2	-	c.2111G>T	c.(2110-2112)GGG>GTG	p.G704V	EPHA7_uc003pof.2_Missense_Mutation_p.G699V|EPHA7_uc011eac.1_Missense_Mutation_p.G700V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	704	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.384615	26.942229	27.246187	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93967241	93967241	5365	6	C	A	A	A	286	22	EPHA7	2	2
MUC17	140453	broad.mit.edu	37	7	100675218	100675218	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100675218C>T	uc003uxp.1	+	c.521C>T	c.(520-522)GCC>GTC	p.A174V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	174	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.069971	-17.266944	48.213177	24	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100675218	100675218	10368	7	C	T	T	T	338	26	MUC17	2	2
EPHB6	2051	broad.mit.edu	37	7	142562293	142562293	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142562293G>T	uc011kst.1	+	c.735G>T	c.(733-735)ACG>ACT	p.T245T	EPHB6_uc011ksu.1_Silent_p.T245T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	245	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.372671	178.86364	181.154414	60	101	KEEP	---	---	---	---	capture		Silent	SNP	142562293	142562293	5371	7	G	T	T	T	483	38	EPHB6	1	1
TAS2R60	338398	broad.mit.edu	37	7	143140889	143140889	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143140889G>T	uc011ktg.1	+	c.344G>T	c.(343-345)AGT>ATT	p.S115I		NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	115	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.172)													0.145604	90.8163	134.797109	53	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143140889	143140889	16107	7	G	T	T	T	468	36	TAS2R60	2	2
CUL1	8454	broad.mit.edu	37	7	148463701	148463701	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148463701C>T	uc010lpg.2	+	c.838C>T	c.(838-840)CAT>TAT	p.H280Y	CUL1_uc003wey.2_Missense_Mutation_p.H280Y|CUL1_uc003wez.2_Missense_Mutation_p.H170Y	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)											0.084746	0.55008	21.207801	10	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148463701	148463701	4214	7	C	T	T	T	377	29	CUL1	2	2
PRKAG2	51422	broad.mit.edu	37	7	151478496	151478496	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151478496C>A	uc003wkk.2	-	c.208G>T	c.(208-210)GGC>TGC	p.G70C	PRKAG2_uc003wkj.2_Missense_Mutation_p.G26C|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.G70C	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	70					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			kidney(1)	1	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)										0.333333	18.516923	19.034074	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151478496	151478496	12944	7	C	A	A	A	286	22	PRKAG2	2	2
INTS1	26173	broad.mit.edu	37	7	1535817	1535817	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:1535817G>A	uc003skn.2	-	c.1686C>T	c.(1684-1686)ATC>ATT	p.I562I	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	562					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)										0.094828	4.943313	24.060816	11	105	KEEP	---	---	---	---	capture		Silent	SNP	1535817	1535817	8076	7	G	A	A	A	473	37	INTS1	1	1
DPP6	1804	broad.mit.edu	37	7	154263946	154263946	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154263946G>T	uc003wlk.2	+	c.572G>T	c.(571-573)AGA>ATA	p.R191I	DPP6_uc003wli.2_Missense_Mutation_p.R127I|DPP6_uc003wlj.2_Missense_Mutation_p.R191I|DPP6_uc003wlm.2_Missense_Mutation_p.R129I|DPP6_uc011kvq.1_Missense_Mutation_p.R129I	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	191	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.098361	2.398924	12.252484	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154263946	154263946	4914	7	G	T	T	T	429	33	DPP6	2	2
ITGB8	3696	broad.mit.edu	37	7	20449248	20449248	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20449248C>A	uc003suu.2	+	c.2034C>A	c.(2032-2034)TCC>TCA	p.S678S	ITGB8_uc011jyh.1_Silent_p.S543S	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	678	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(2)	2										842				0.206061	75.74967	88.973795	34	131	KEEP	---	---	---	---	capture		Silent	SNP	20449248	20449248	8205	7	C	A	A	A	262	21	ITGB8	2	2
STK31	56164	broad.mit.edu	37	7	23809344	23809344	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23809344G>T	uc003sws.3	+	c.1682G>T	c.(1681-1683)AGT>ATT	p.S561I	STK31_uc003swt.3_Missense_Mutation_p.S538I|STK31_uc011jze.1_Missense_Mutation_p.S561I|STK31_uc010kuq.2_Missense_Mutation_p.S538I	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	561					protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.294931	354.011978	370.351831	128	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23809344	23809344	15816	7	G	T	T	T	468	36	STK31	2	2
CACNA2D1	781	broad.mit.edu	37	7	81641517	81641517	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81641517C>T	uc003uhr.1	-	c.1315G>A	c.(1315-1317)GAC>AAC	p.D439N		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	439	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.252101	81.999157	88.636884	30	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81641517	81641517	2664	7	C	T	T	T	416	32	CACNA2D1	2	2
PCLO	27445	broad.mit.edu	37	7	82579564	82579564	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579564G>A	uc003uhx.2	-	c.10340C>T	c.(10339-10341)ACG>ATG	p.T3447M	PCLO_uc003uhv.2_Missense_Mutation_p.T3447M|PCLO_uc010lec.2_Missense_Mutation_p.T412M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.212389	51.236035	59.878518	24	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579564	82579564	12003	7	G	A	A	A	520	40	PCLO	1	1
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106810978G>T	uc003ymd.2	+	c.766G>T	c.(766-768)GGC>TGC	p.G256C	ZFPM2_uc011lhs.1_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	256	C2HC-type 1.				blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.383333	66.607105	67.324466	23	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106810978	106810978	18248	8	G	T	T	T	611	47	ZFPM2	2	2
FAM91A1	157769	broad.mit.edu	37	8	124810464	124810464	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124810464A>T	uc003yqv.2	+	c.1546A>T	c.(1546-1548)AGC>TGC	p.S516C	FAM91A1_uc011lik.1_Missense_Mutation_p.S516C|FAM91A1_uc011lil.1_Missense_Mutation_p.S274C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	516										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)											0.165354	35.291834	48.796524	21	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124810464	124810464	5887	8	A	T	T	T	91	7	FAM91A1	3	3
FAM135B	51059	broad.mit.edu	37	8	139380184	139380184	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139380184G>T	uc003yuy.2	-	c.43C>A	c.(43-45)CAT>AAT	p.H15N	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	15										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.349593	258.574004	263.485273	86	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139380184	139380184	5646	8	G	T	T	T	624	48	FAM135B	2	2
FLJ43860	389690	broad.mit.edu	37	8	142451831	142451831	+	Silent	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142451831C>A	uc003ywi.2	-	c.2868G>T	c.(2866-2868)GGG>GGT	p.G956G	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	956							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)											0.166667	5.115063	7.011096	3	15	KEEP	---	---	---	---	capture		Silent	SNP	142451831	142451831	6170	8	C	A	A	A	327	26	FLJ43860	2	2
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144993918G>A	uc003zaf.1	-	c.10482C>T	c.(10480-10482)CTC>CTT	p.L3494L	PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3494	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.410256	45.396187	45.669387	16	23	KEEP	---	---	---	---	capture		Silent	SNP	144993918	144993918	12478	8	G	A	A	A	470	37	PLEC	1	1
SNTG1	54212	broad.mit.edu	37	8	51314846	51314846	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51314846T>A	uc010lxy.1	+	c.104T>A	c.(103-105)ATT>AAT	p.I35N	SNTG1_uc003xqs.1_Missense_Mutation_p.I35N|SNTG1_uc010lxz.1_Missense_Mutation_p.I35N|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	35					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.162393	66.360317	91.993095	38	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51314846	51314846	15374	8	T	A	A	A	676	52	SNTG1	3	3
PXDNL	137902	broad.mit.edu	37	8	52384748	52384748	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52384748T>A	uc003xqu.3	-	c.811A>T	c.(811-813)AAC>TAC	p.N271Y		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	271	Ig-like C2-type 1.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.427419	151.949227	152.519778	53	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52384748	52384748	13306	8	T	A	A	A	819	63	PXDNL	3	3
DEFA6	1671	broad.mit.edu	37	8	6782358	6782358	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6782358G>T	uc003wqt.2	-	c.285C>A	c.(283-285)CAC>CAA	p.H95Q		NM_001926	NP_001917	Q01524	DEF6_HUMAN	defensin, alpha 6 preproprotein	95					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)										0.122807	9.382694	17.321707	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6782358	6782358	4564	8	G	T	T	T	620	48	DEFA6	2	2
PRDM14	63978	broad.mit.edu	37	8	70964340	70964340	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70964340G>T	uc003xym.2	-	c.1688C>A	c.(1687-1689)TCC>TAC	p.S563Y		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	563	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			NSCLC(129;99 1813 5906 40656 46114)								0.16092	20.252707	29.735557	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70964340	70964340	12897	8	G	T	T	T	533	41	PRDM14	2	2
ZFHX4	79776	broad.mit.edu	37	8	77764127	77764127	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764127C>A	uc003yav.2	+	c.4835C>A	c.(4834-4836)GCT>GAT	p.A1612D	ZFHX4_uc003yau.1_Missense_Mutation_p.A1657D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1612D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1612					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.173913	39.222377	50.770601	20	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764127	77764127	18223	8	C	A	A	A	364	28	ZFHX4	2	2
RUNX1T1	862	broad.mit.edu	37	8	92972678	92972678	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92972678C>A	uc011lgi.1	-	c.1640G>T	c.(1639-1641)GGC>GTC	p.G547V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G509V|RUNX1T1_uc003yfd.2_Missense_Mutation_p.G536V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G499V|RUNX1T1_uc010mao.2_Missense_Mutation_p.G509V|RUNX1T1_uc010man.1_Missense_Mutation_p.G161V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G499V	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	536	MYND-type.				generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.16	10.758621	16.280564	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92972678	92972678	14227	8	C	A	A	A	338	26	RUNX1T1	2	2
SVEP1	79987	broad.mit.edu	37	9	113194879	113194879	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113194879C>A	uc010mtz.2	-	c.5096G>T	c.(5095-5097)GGC>GTC	p.G1699V		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1699	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.28972	77.699897	81.929978	31	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113194879	113194879	15940	9	C	A	A	A	338	26	SVEP1	2	2
IFNA8	3445	broad.mit.edu	37	9	21409376	21409376	+	Silent	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21409376T>C	uc003zpc.1	+	c.201T>C	c.(199-201)GAT>GAC	p.D67D		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	67					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)										0.322581	116.962683	120.42525	40	84	KEEP	---	---	---	---	capture		Silent	SNP	21409376	21409376	7844	9	T	C	C	C	660	51	IFNA8	4	4
CDKN2A	1029	broad.mit.edu	37	9	21971140	21971140	+	Silent	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971140G>T	uc003zpl.2	-	c.384C>A	c.(382-384)CGC>CGA	p.R128R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.A73D|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	143					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(425)|p.A73G(1)|p.L65fs*38(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R128W(1)|p.C72fs*71(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)				17		76	TSP Lung(5;3.83e-07)			0.428571	14.219775	14.286604	6	8	KEEP	---	---	---	---	capture		Silent	SNP	21971140	21971140	3290	9	G	T	T	T	546	42	CDKN2A	2	2
ALDH1B1	219	broad.mit.edu	37	9	38395944	38395945	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38395944_38395945CA>TT	uc004aay.2	+	c.199_200CA>TT	c.(199-201)CAC>TTC	p.H67F		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	67					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)									0.179487	37.426292	48.72086	21	96	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38395944	38395945	496	9	CA	TT	TT	TT	325	25	ALDH1B1	2	2
TRPM6	140803	broad.mit.edu	37	9	77377632	77377632	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77377632T>A	uc004ajl.1	-	c.3955A>T	c.(3955-3957)AGG>TGG	p.R1319W	TRPM6_uc004ajk.1_Missense_Mutation_p.R1314W|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R275W	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1319	Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.109705	18.963811	54.72804	26	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77377632	77377632	17141	9	T	A	A	A	726	56	TRPM6	3	3
PRUNE2	158471	broad.mit.edu	37	9	79461573	79461573	+	Silent	SNP	T	C	C			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79461573T>C	uc010mpk.2	-	c.366A>G	c.(364-366)TCA>TCG	p.S122S	PRUNE2_uc004akn.2_Silent_p.S122S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	122					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.088608	3.462161	16.975288	7	72	KEEP	---	---	---	---	capture		Silent	SNP	79461573	79461573	13092	9	T	C	C	C	704	55	PRUNE2	4	4
FGD3	89846	broad.mit.edu	37	9	95773546	95773546	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95773546C>T	uc004asw.2	+	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W	FGD3_uc004asx.2_Missense_Mutation_p.R343W|FGD3_uc004asz.2_Missense_Mutation_p.R343W|FGD3_uc004ata.2_Missense_Mutation_p.R146W	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.296296	43.281104	45.28384	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95773546	95773546	6071	9	C	T	T	T	399	31	FGD3	1	1
NXF5	55998	broad.mit.edu	37	X	101095868	101095868	+	Splice_Site_SNP	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101095868C>A	uc011mrk.1	-	c.481_splice	c.e9-1	p.L161_splice	NXF5_uc004eih.1_Splice_Site_SNP|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_Splice_Site_SNP|NXF5_uc004eik.1_Splice_Site_SNP|NXF5_uc004eil.1_Splice_Site_SNP	NM_032946	NP_116564			nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.166667	11.225158	15.019644	6	30	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101095868	101095868	11191	23	C	A	A	A	364	28	NXF5	5	2
GPR112	139378	broad.mit.edu	37	X	135482182	135482182	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135482182G>T	uc004ezu.1	+	c.8482G>T	c.(8482-8484)GGC>TGC	p.G2828C	GPR112_uc010nsb.1_Missense_Mutation_p.G2623C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2828	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.496403	203.462926	203.464566	69	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135482182	135482182	6903	23	G	T	T	T	559	43	GPR112	2	2
HTATSF1	27336	broad.mit.edu	37	X	135593999	135593999	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135593999G>T	uc004ezw.2	+	c.2095G>T	c.(2095-2097)GAT>TAT	p.D699Y	HTATSF1_uc004ezx.2_Missense_Mutation_p.D699Y	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	699	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.563636	182.948095	183.333969	62	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135593999	135593999	7733	23	G	T	T	T	429	33	HTATSF1	2	2
AFF2	2334	broad.mit.edu	37	X	148048526	148048526	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148048526G>A	uc004fcp.2	+	c.3120G>A	c.(3118-3120)CTG>CTA	p.L1040L	AFF2_uc004fcq.2_Silent_p.L1030L|AFF2_uc004fcr.2_Silent_p.L1001L|AFF2_uc011mxb.1_Silent_p.L1005L|AFF2_uc004fcs.2_Silent_p.L1005L|AFF2_uc011mxc.1_Silent_p.L681L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1040					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.074766	-5.557834	34.150998	16	198	KEEP	---	---	---	---	capture		Silent	SNP	148048526	148048526	358	23	G	A	A	A	600	47	AFF2	2	2
VBP1	7411	broad.mit.edu	37	X	154464554	154464554	+	Silent	SNP	G	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154464554G>A	uc004fnc.2	+	c.429G>A	c.(427-429)TTG>TTA	p.L143L	VBP1_uc004fnd.2_Silent_p.L106L	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	143					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.213115	53.076413	62.361815	26	96	KEEP	---	---	---	---	capture		Silent	SNP	154464554	154464554	17701	23	G	A	A	A	620	48	VBP1	2	2
MAP7D2	256714	broad.mit.edu	37	X	20034374	20034374	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:20034374C>A	uc010nfo.1	-	c.1482G>T	c.(1480-1482)AAG>AAT	p.K494N	MAP7D2_uc004czq.1_Missense_Mutation_p.K338N|MAP7D2_uc011mji.1_Missense_Mutation_p.K401N|MAP7D2_uc004czr.1_Missense_Mutation_p.K453N|MAP7D2_uc011mjj.1_Missense_Mutation_p.K408N	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	453										ovary(2)|breast(1)	3														0.318182	19.315893	19.963061	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20034374	20034374	9651	23	C	A	A	A	363	28	MAP7D2	2	2
IL1RAPL1	11141	broad.mit.edu	37	X	29973557	29973557	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29973557C>A	uc004dby.2	+	c.1711C>A	c.(1711-1713)CAG>AAG	p.Q571K		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	571	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.545455	76.601503	76.680293	24	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29973557	29973557	7962	23	C	A	A	A	325	25	IL1RAPL1	2	2
ARSF	416	broad.mit.edu	37	X	3028249	3028249	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3028249G>T	uc004cre.1	+	c.1346G>T	c.(1345-1347)TGT>TTT	p.C449F	ARSF_uc004crf.1_Missense_Mutation_p.C449F	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	449						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.567568	65.47464	65.621309	21	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3028249	3028249	1009	23	G	T	T	T	624	48	ARSF	2	2
FAM47B	170062	broad.mit.edu	37	X	34961522	34961522	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961522C>G	uc004ddi.1	+	c.574C>G	c.(574-576)CCC>GCC	p.P192A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	192	Pro-rich.									ovary(3)|breast(1)	4														0.391304	31.370298	31.608164	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961522	34961522	5791	23	C	G	G	G	390	30	FAM47B	3	3
CYBB	1536	broad.mit.edu	37	X	37663315	37663315	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37663315G>T	uc004ddr.2	+	c.1083G>T	c.(1081-1083)TGG>TGT	p.W361C	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.W329C|CYBB_uc011mkg.1_Missense_Mutation_p.W94C	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	361	Cytoplasmic (Potential).|FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2														0.310345	45.52302	47.3846	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37663315	37663315	4298	23	G	T	T	T	533	41	CYBB	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134201C>A	uc004efk.1	+	c.2962C>A	c.(2962-2964)CCC>ACC	p.P988T	PCDH11X_uc004efl.1_Missense_Mutation_p.P988T|PCDH11X_uc004efo.1_Missense_Mutation_p.P988T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P988T|PCDH11X_uc004efm.1_Missense_Mutation_p.P988T|PCDH11X_uc004efn.1_Missense_Mutation_p.P988T|PCDH11X_uc004efh.1_Missense_Mutation_p.P988T|PCDH11X_uc004efj.1_Missense_Mutation_p.P988T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	988	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.536	186.804494	186.943287	67	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91134201	91134201	11928	23	C	A	A	A	390	30	PCDH11X	2	2
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	-	-			TCGA-49-4505-01	TCGA-49-4505-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99641544_99641546delCTC	uc001yga.2	-	c.1627_1629delGAG	c.(1627-1629)GAGdel	p.E543del	BCL11B_uc001ygb.2_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	543	Glu-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)						98				0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	99641544	99641546	1385	14	CTC	-	-	-	363	28	BCL11B	5	5
