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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
SLC2A5	6518	broad.mit.edu	37	1	9117573	9117573	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:9117573G>A	uc001apo.2	-	3	519	c.227C>T	c.(226-228)TCC>TTC	p.S76F	SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_Missense_Mutation_p.S32F|SLC2A5_uc010oab.1_Missense_Mutation_p.S76F|SLC2A5_uc010oac.1_Missense_Mutation_p.S76F|SLC2A5_uc001app.3_Missense_Mutation_p.S76F	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	76	Helical; Name=2; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAACATGGACACGGTTAC	0.453000												
ARHGEF19	128272	broad.mit.edu	37	1	16531296	16531296	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:16531296A>C	uc001ayc.1	-	12	2002	c.1865T>G	c.(1864-1866)CTC>CGC	p.L622R	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.L99R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	622	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGGTGGAGGTAGACTGC	0.622000												
CSMD2	114784	broad.mit.edu	37	1	34128512	34128512	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:34128512C>T	uc001bxn.1	-	26	4142	c.4113G>A	c.(4111-4113)CAG>CAA	p.Q1371Q	CSMD2_uc001bxm.1_Silent_p.Q1411Q|CSMD2_uc001bxo.1_Silent_p.Q284Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1371	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCAAAGCCCTGCTTGCTGG	0.587000												
AGBL4	84871	broad.mit.edu	37	1	49056558	49056558	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:49056558T>C	uc001cru.2	-	10	1209	c.1051A>G	c.(1051-1053)AGG>GGG	p.R351G	AGBL4_uc010omw.1_Missense_Mutation_p.R84G|AGBL4_uc010omx.1_Missense_Mutation_p.R363G|AGBL4_uc001crv.1_Missense_Mutation_p.R204G|AGBL4_uc010omy.1_Missense_Mutation_p.R174G	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	351					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ATGGCCTGCCTCTGGAACCGT	0.517000												
COL11A1	1301	broad.mit.edu	37	1	103444943	103444943	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:103444943C>A	uc001dul.2	-	32	2923	c.2605G>T	c.(2605-2607)GCA>TCA	p.A869S	COL11A1_uc001duk.2_Missense_Mutation_p.A65S|COL11A1_uc001dum.2_Missense_Mutation_p.A881S|COL11A1_uc001dun.2_Missense_Mutation_p.A830S|COL11A1_uc009weh.2_Missense_Mutation_p.A753S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	869	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATACCCGTGCACCTTTCTCT	0.254000												
NTNG1	22854	broad.mit.edu	37	1	107691253	107691253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:107691253G>A	uc001dvh.3	+	2	756	c.38G>A	c.(37-39)TGG>TAG	p.W13*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.W13*|NTNG1_uc010out.1_Nonsense_Mutation_p.W13*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.W13*|NTNG1_uc001dvd.1_Nonsense_Mutation_p.W13*	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	13					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CATGCCCTTTGGGTTACGGTG	0.413000												
FAM63A	55793	broad.mit.edu	37	1	150974704	150974704	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:150974704G>A	uc001ewf.2	-	3	2074	c.390C>T	c.(388-390)ACC>ACT	p.T130T	FAM63A_uc001ewc.2_5'UTR|FAM63A_uc010pcm.1_Silent_p.T35T|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.T178T|FAM63A_uc001ewg.2_Silent_p.T130T	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	130							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGTGCTCTGGGTGATGATGG	0.517000												
FLG	2312	broad.mit.edu	37	1	152277360	152277360	+	Silent	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:152277360C>A	uc001ezu.1	-	3	10038	c.10002G>T	c.(10000-10002)GGG>GGT	p.G3334G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3334	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACCACTGGACCCCCAGTGTC	0.582000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152277694	152277694	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:152277694C>A	uc001ezu.1	-	3	9704	c.9668G>T	c.(9667-9669)GGA>GTA	p.G3223V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3223	Filaggrin 19.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCCCTCACTGTC	0.577000									Ichthyosis			
NES	10763	broad.mit.edu	37	1	156640628	156640628	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:156640628C>G	uc001fpq.2	-	4	3485	c.3352G>C	c.(3352-3354)GAG>CAG	p.E1118Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1118	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCATCACCTCTTCCCTGGTC	0.652000												
ZNF648	127665	broad.mit.edu	37	1	182026767	182026767	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:182026767G>A	uc001goz.2	-	2	587	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGACCACTGGGAAGGGAACCC	0.557000												
HSD11B1	3290	broad.mit.edu	37	1	209880290	209880290	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:209880290G>A	uc001hhj.2	+	5	441	c.334G>A	c.(334-336)GGA>AGA	p.G112R	HSD11B1_uc001hhk.2_Missense_Mutation_p.G112R	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	112	Lumenal (Potential).				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TCTTGCAGGAGGACTAGACAT	0.438000												
ARHGAP22	58504	broad.mit.edu	37	10	49654578	49654578	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:49654578C>T	uc001jgt.2	-	10	2250	c.1953G>A	c.(1951-1953)ATG>ATA	p.M651I	ARHGAP22_uc001jgs.2_Missense_Mutation_p.M561I|ARHGAP22_uc001jgu.2_Missense_Mutation_p.M667I|ARHGAP22_uc010qgl.1_Missense_Mutation_p.M608I|ARHGAP22_uc010qgm.1_Missense_Mutation_p.M657I|ARHGAP22_uc001jgv.2_Missense_Mutation_p.M349I|ARHGAP22_uc001jgr.2_Missense_Mutation_p.M368I	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	651	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						TTATTTCCAGCATGATGTATT	0.488000												
DHX32	55760	broad.mit.edu	37	10	127525345	127525345	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:127525345C>T	uc001ljf.1	-	11	2634	c.2143G>A	c.(2143-2145)GAT>AAT	p.D715N	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.D339N|DHX32_uc001ljg.1_Missense_Mutation_p.D715N|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	715						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATAGGTGATCCACTACTTGC	0.423000												
INPP5A	3632	broad.mit.edu	37	10	134459401	134459401	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:134459401G>A	uc001llp.2	+	3	395	c.147G>A	c.(145-147)ATG>ATA	p.M49I	INPP5A_uc001llo.1_Missense_Mutation_p.M49I|INPP5A_uc001llq.2_Missense_Mutation_p.M1I	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	49					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGCACTTCATGGCCTTGCACT	0.597000												
MUC5B	727897	broad.mit.edu	37	11	1159361	1159361	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:1159361C>T	uc009ycr.1	+	12	1464	c.1338C>T	c.(1336-1338)GAC>GAT	p.D446D		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	437	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACGTTTGACGGGAAGCAAT	0.647000												
OR52B4	143496	broad.mit.edu	37	11	4389175	4389175	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:4389175C>A	uc010qye.1	-	1	351	c.351G>T	c.(349-351)TTG>TTT	p.L117F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCACCAGCAAGATCCCTG	0.468000												
NELL1	4745	broad.mit.edu	37	11	21135238	21135238	+	Silent	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:21135238T>C	uc001mqe.2	+	13	1557	c.1404T>C	c.(1402-1404)CGT>CGC	p.R468R	NELL1_uc001mqf.2_Silent_p.R468R|NELL1_uc009yid.2_Silent_p.R496R|NELL1_uc010rdo.1_Silent_p.R411R|NELL1_uc010rdp.1_Silent_p.R228R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	468	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GATACATTCGTGTGGATGACT	0.408000												
OR4A15	81328	broad.mit.edu	37	11	55135685	55135685	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:55135685T>A	uc010rif.1	+	1	326	c.326T>A	c.(325-327)ATG>AAG	p.M109K		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	109	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTCCCAAAATGATTGTTGAC	0.413000												
SUV420H1	51111	broad.mit.edu	37	11	67926371	67926371	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:67926371T>C	uc001onm.1	-	11	1698	c.1442A>G	c.(1441-1443)AAA>AGA	p.K481R	SUV420H1_uc009yse.1_Missense_Mutation_p.K67R|SUV420H1_uc001onn.1_Missense_Mutation_p.K309R|SUV420H1_uc009ysf.2_Missense_Mutation_p.K241R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CAGAACTACTTTAGGCTCTTT	0.433000												
CLSTN3	9746	broad.mit.edu	37	12	7293961	7293961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:7293961C>T	uc001qsr.2	+	9	1725	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	CLSTN3_uc001qss.2_Nonsense_Mutation_p.R495*	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	483	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CCACCCACCCCGAAGGGAGCC	0.572000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LST-3TM12	338821	broad.mit.edu	37	12	21205043	21205043	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:21205043A>T	uc010sin.1	+	9	1204	c.1204A>T	c.(1204-1206)AGA>TGA	p.R402*	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R449*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	402						membrane	transporter activity				0						TAGTCCAGTAAGATCTCATGT	0.249000												
ABCC9	10060	broad.mit.edu	37	12	22061124	22061124	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:22061124G>A	uc001rfi.1	-	9	1362	c.1342C>T	c.(1342-1344)CTC>TTC	p.L448F	ABCC9_uc001rfh.2_Missense_Mutation_p.L448F|ABCC9_uc001rfj.1_Missense_Mutation_p.L448F	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	448	Extracellular (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAATTATAGAGCAGAATCACG	0.423000												
CSRP2	1466	broad.mit.edu	37	12	77254166	77254166	+	Silent	SNP	A	A	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:77254166A>G	uc001syl.1	-	4	392	c.309T>C	c.(307-309)AAT>AAC	p.N103N		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	103					multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						AAGTGTTTGGATTTGTTGTAG	0.428000												
HAL	3034	broad.mit.edu	37	12	96387251	96387251	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:96387251G>A	uc001tem.1	-	8	864	c.567C>T	c.(565-567)AAC>AAT	p.N189N	HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.N189N	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	189					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	AGCGTACTAAGTTGACCTGAA	0.438000												
CPNE6	9362	broad.mit.edu	37	14	24542739	24542739	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr14:24542739C>T	uc001wll.2	+	3	299	c.200C>T	c.(199-201)TCC>TTC	p.S67F	CPNE6_uc010tnv.1_Missense_Mutation_p.S122F|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	67	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CGCTCCTGTTCCAGCCCTGTC	0.592000												
HERC2	8924	broad.mit.edu	37	15	28459349	28459349	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:28459349G>A	uc001zbj.2	-	41	6534	c.6428C>T	c.(6427-6429)GCG>GTG	p.A2143V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2143					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCTCCTCCGCCAGTGTGCT	0.647000												
AP3B2	8120	broad.mit.edu	37	15	83345298	83345298	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:83345298G>A	uc010uoh.1	-	14	1757	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V	AP3B2_uc010uoi.1_Missense_Mutation_p.A527V|AP3B2_uc010uoj.1_Missense_Mutation_p.A495V|AP3B2_uc010uog.1_Missense_Mutation_p.A163V	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	527					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAATGACTTGGCCATTTTTCT	0.507000												
ADAMTS17	170691	broad.mit.edu	37	15	100801697	100801697	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:100801697C>T	uc002bvv.1	-	6	1097	c.1018G>A	c.(1018-1020)GTG>ATG	p.V340M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V97M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	340	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTCACAAACACGGCAGCATCC	0.537000												
GLYR1	84656	broad.mit.edu	37	16	4882012	4882012	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr16:4882012G>A	uc002cxx.3	-	5	542	c.505C>T	c.(505-507)CGG>TGG	p.R169W	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R100W|GLYR1_uc002cya.2_Missense_Mutation_p.R169W|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	169	A.T hook.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CCCCGCTTCCGGGGACTTTGC	0.502000												
ZNF768	79724	broad.mit.edu	37	16	30537361	30537361	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr16:30537361C>G	uc002dyk.3	-	2	276	c.100G>C	c.(100-102)GAG>CAG	p.E34Q	ZNF768_uc010vex.1_Missense_Mutation_p.E3Q|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E3Q	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	34	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TCCTCATTCTCACTCATGTTG	0.413000												
ANKRD13B	124930	broad.mit.edu	37	17	27936185	27936185	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr17:27936185G>A	uc002hei.2	+	6	760	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	ANKRD13B_uc002heh.2_Missense_Mutation_p.R84Q|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	216											0						GGGCAGGACCGGGAGCTGCTG	0.627000												
CLTC	1213	broad.mit.edu	37	17	57744325	57744325	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr17:57744325C>G	uc002ixq.1	+	13	2558	c.2115C>G	c.(2113-2115)TTC>TTG	p.F705L	CLTC_uc002ixp.2_Missense_Mutation_p.F705L|CLTC_uc002ixr.1_Missense_Mutation_p.F709L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	705	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAATCTTTCAAGAGTTTTG	0.358000			T	ALK|TFE3	ALCL|renal 							
INO80C	125476	broad.mit.edu	37	18	33077741	33077741	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr18:33077741C>T	uc002kyy.3	-	1	215	c.98G>A	c.(97-99)AGC>AAC	p.S33N	INO80C_uc002kyw.1_Missense_Mutation_p.S33N|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S33N	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	33					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						GCCCCCGCCGCTGCTGCCATT	0.627000												
TUBB4	10382	broad.mit.edu	37	19	6495529	6495529	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr19:6495529G>A	uc002mfg.1	-	4	1088	c.981C>T	c.(979-981)GAC>GAT	p.D327D	TUBB4_uc002mff.1_Silent_p.D255D|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	327					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCATCTGCTCGTCCACCTCCT	0.657000												
GRIK5	2901	broad.mit.edu	37	19	42546812	42546812	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr19:42546812G>A	uc002osj.1	-	11	1400	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	GRIK5_uc002osi.1_Silent_p.A27A|GRIK5_uc010eib.1_Silent_p.A374A	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	455	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCAGCAGCTCGGCCAGCTCCC	0.682000												
PXDN	7837	broad.mit.edu	37	2	1647316	1647316	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:1647316G>A	uc002qxa.2	-	19	3840	c.3776C>T	c.(3775-3777)CCG>CTG	p.P1259L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1259					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCTGGGCCGGGGAGAACAC	0.587000												
KIDINS220	57498	broad.mit.edu	37	2	8873723	8873723	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:8873723C>T	uc002qzc.2	-	29	4086	c.3904G>A	c.(3904-3906)GGT>AGT	p.G1302S	KIDINS220_uc010yiv.1_Missense_Mutation_p.G1011S|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1203S|KIDINS220_uc002qzb.2_Missense_Mutation_p.G156S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1302	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCAGGCTCACCGTGCGGGGCT	0.577000												
THADA	63892	broad.mit.edu	37	2	43732809	43732809	+	Silent	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:43732809T>C	uc002rsw.3	-	24	3925	c.3573A>G	c.(3571-3573)TTA>TTG	p.L1191L	THADA_uc010far.2_Silent_p.L460L|THADA_uc002rsx.3_Silent_p.L1191L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L900L|THADA_uc010fat.1_Silent_p.L338L|THADA_uc002rta.2_Silent_p.L901L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1191							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCAAAGAGATTAACTCTTTCA	0.368000												
LRRTM1	347730	broad.mit.edu	37	2	80529981	80529981	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:80529981C>T	uc002sok.1	-	2	1234	c.964G>A	c.(964-966)GTG>ATG	p.V322M	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	322	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AGGGCACACACGTTGCGCCCG	0.632000										HNSCC(69;0.2)		
ITGA4	3676	broad.mit.edu	37	2	182322539	182322539	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:182322539G>T	uc002unu.2	+	1	921	c.158G>T	c.(157-159)GGC>GTC	p.G53V	ITGA4_uc002unt.2_Missense_Mutation_p.G53V|ITGA4_uc010zfl.1_Missense_Mutation_p.G53V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	53	FG-GAP 1.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACGCTGTTCGGCTACTCGGTC	0.647000												
ICA1L	130026	broad.mit.edu	37	2	203693599	203693599	+	Missense_Mutation	SNP	G	G	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:203693599G>C	uc002uzh.1	-	3	298	c.134C>G	c.(133-135)TCT>TGT	p.S45C	ICA1L_uc002uzi.1_Missense_Mutation_p.S45C|ICA1L_uc002uzj.2_Missense_Mutation_p.S45C|ICA1L_uc002uzk.1_Missense_Mutation_p.S45C	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	45	AH.										0						TTCAGCATCAGACGCCACCAA	0.403000												
ALPPL2	251	broad.mit.edu	37	2	233274532	233274532	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:233274532C>A	uc002vss.3	+	11	1602	c.1549C>A	c.(1549-1551)CCT>ACT	p.P517T		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	517					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CGCGTTGCTTCCTCTGCTGGC	0.746000												
ALPI	248	broad.mit.edu	37	2	233323432	233323432	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:233323432G>A	uc002vst.3	+	10	1351	c.1274G>A	c.(1273-1275)CGA>CAA	p.R425Q	ALPI_uc002vsu.3_Missense_Mutation_p.R336Q	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	425					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCAGGCGTGCGACCAGACGTG	0.652000												
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:4680251A>G	uc002wku.2	+	2	748	c.385A>G	c.(385-387)ATG>GTG	p.M129V	PRNP_uc002wkv.2_Missense_Mutation_p.M129V|PRNP_uc002wkw.2_Missense_Mutation_p.M129V|PRNP_uc002wkx.2_Missense_Mutation_p.M129V|PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wky.2_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(1)		central_nervous_system(1)	1					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000												
C20orf186	149954	broad.mit.edu	37	20	31692670	31692670	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:31692670G>A	uc010zue.1	+	14	1750	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	579						cytoplasm|extracellular region	lipid binding				0						ATTCATGCCCGCAATGAACGG	0.572000												
R3HDML	140902	broad.mit.edu	37	20	42979392	42979392	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:42979392G>A	uc002xls.1	+	5	894	c.722G>A	c.(721-723)TGC>TAC	p.C241Y		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	241						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAACATGTGCTTCAAGGGG	0.557000												
GTPBP5	26164	broad.mit.edu	37	20	60770905	60770905	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:60770905C>T	uc002yce.3	+	3	290	c.252C>T	c.(250-252)AAC>AAT	p.N84N	GTPBP5_uc011aab.1_Translation_Start_Site|GTPBP5_uc011aac.1_Translation_Start_Site|GTPBP5_uc011aad.1_Translation_Start_Site|GTPBP5_uc011aae.1_Translation_Start_Site|GTPBP5_uc011aaf.1_Silent_p.N84N|GTPBP5_uc011aag.1_Silent_p.N84N	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	84	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GTGGAGGAAACGGAGGCGCTG	0.542000												
GTPBP5	26164	broad.mit.edu	37	20	60773769	60773769	+	Missense_Mutation	SNP	C	C	T	rs138156304	byFrequency	TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:60773769C>T	uc002yce.3	+	5	586	c.548C>T	c.(547-549)GCG>GTG	p.A183V	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Missense_Mutation_p.A183V	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	183	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TACATTGCCGCGCTGGGCGGG	0.637000												
HPS4	89781	broad.mit.edu	37	22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr22:26868841C>A	uc003acl.2	-	5	1000	c.341G>T	c.(340-342)GGA>GTA	p.G114V	HPS4_uc003aci.2_Missense_Mutation_p.G109V|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.G114V|HPS4_uc003ach.2_5'Flank	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						ATTAAAGAATCCAACTAGCTG	0.398000									Hermansky-Pudlak_syndrome			
BRD1	23774	broad.mit.edu	37	22	50216631	50216631	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr22:50216631C>T	uc003biv.2	-	1	1822	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P445P|BRD1_uc011arh.1_Silent_p.P445P|BRD1_uc003biu.3_Silent_p.P445P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	445					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)		CGCACACGGTCGGCAGGACCG	0.572000												
RBM5	10181	broad.mit.edu	37	3	50147860	50147860	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:50147860G>A	uc003cyg.2	+	16	1475	c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	RBM5_uc011bdj.1_Missense_Mutation_p.A387T|RBM5_uc011bdk.1_Missense_Mutation_p.A271T|RBM5_uc003cyh.2_5'Flank	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	443	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCCCAGCCGCTTCCCCTAC	0.453000												
KCTD6	200845	broad.mit.edu	37	3	58487062	58487062	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:58487062C>T	uc003dkj.3	+	3	534	c.417C>T	c.(415-417)ATC>ATT	p.I139I	KCTD6_uc003dki.3_Silent_p.I139I|KCTD6_uc003dkk.3_Silent_p.I139I	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	139						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TGGCTGTCATCATAACGCAAC	0.423000												
WDR49	151790	broad.mit.edu	37	3	167223127	167223127	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:167223127G>T	uc003fev.1	-	13	2102	c.1796C>A	c.(1795-1797)CCT>CAT	p.P599H	WDR49_uc003feu.1_Missense_Mutation_p.P424H|WDR49_uc011bpd.1_Missense_Mutation_p.P564H|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	599										large_intestine(1)|ovary(1)|skin(1)	3						ACCATAATAAGGTTTTTGTGT	0.259000												
AASDH	132949	broad.mit.edu	37	4	57221393	57221393	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr4:57221393G>A	uc003hbn.2	-	6	1211	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.A200V|AASDH_uc003hbo.2_Missense_Mutation_p.A253V|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.A353V|AASDH_uc003hbp.2_Missense_Mutation_p.A353V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	353					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ATAAATGGTCGCCCAACTTGA	0.373000												
LRRC14B	389257	broad.mit.edu	37	5	195112	195112	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:195112G>A	uc003jal.1	+	2	1217	c.1189G>A	c.(1189-1191)GGG>AGG	p.G397R		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	397	LRR 5.									skin(1)	1						CAAGTTCCTCGGGAACCCGCT	0.662000												
PDZD2	23037	broad.mit.edu	37	5	32088031	32088031	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:32088031G>A	uc003jhl.2	+	20	4865	c.4477G>A	c.(4477-4479)GCC>ACC	p.A1493T	PDZD2_uc003jhm.2_Missense_Mutation_p.A1493T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1493					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGGTGCCCCCGCCTACCCACA	0.592000												
DEPDC1B	55789	broad.mit.edu	37	5	59983029	59983029	+	Missense_Mutation	SNP	C	C	T	rs141738735		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:59983029C>T	uc003jsh.2	-	2	147	c.74G>A	c.(73-75)CGT>CAT	p.R25H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R25H|DEPDC1B_uc011cqn.1_Translation_Start_Site	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	25	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CATCTTAGCACGAAAAAGCTC	0.428000												
MAP1B	4131	broad.mit.edu	37	5	71495792	71495792	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:71495792C>T	uc003kbw.3	+	5	6851	c.6610C>T	c.(6610-6612)CCC>TCC	p.P2204S	MAP1B_uc010iyw.1_Missense_Mutation_p.P2221S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2078S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2078S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2204						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCTCCAGCTCCCGTGCAAGA	0.567000												
PCDHB7	56129	broad.mit.edu	37	5	140554549	140554549	+	Silent	SNP	G	G	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140554549G>T	uc003lit.2	+	1	2307	c.2133G>T	c.(2131-2133)CTG>CTT	p.L711L	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	711	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGCGGCTGTGCAGGAGGA	0.682000												
PCDHB8	56128	broad.mit.edu	37	5	140558070	140558070	+	Missense_Mutation	SNP	C	C	T	rs17844484		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140558070C>T	uc011dai.1	+	1	641	c.455C>T	c.(454-456)GCG>GTG	p.A152V	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	152	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGACTGCGTTTCCTCTG	0.433000												
PCDHB9	56127	broad.mit.edu	37	5	140568480	140568480	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140568480G>A	uc003liw.1	+	3	1589	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGACTTCCGCGTGGGCGCC	0.667000												
PPP2R2B	5521	broad.mit.edu	37	5	145980014	145980014	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:145980014T>C	uc003loe.2	-	7	1325	c.800A>G	c.(799-801)GAG>GGG	p.E267G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.E256G|PPP2R2B_uc003log.3_Missense_Mutation_p.E267G|PPP2R2B_uc003lof.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loi.3_Missense_Mutation_p.E270G|PPP2R2B_uc003loh.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loj.3_Missense_Mutation_p.E247G|PPP2R2B_uc003lok.3_Missense_Mutation_p.E256G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E273G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E325G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	267					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTTCCGGCTCTTCAAAAAC	0.413000												
DOCK2	1794	broad.mit.edu	37	5	169445986	169445986	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:169445986C>T	uc003maf.2	+	33	3335	c.3255C>T	c.(3253-3255)ATC>ATT	p.I1085I	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I577I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1085	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCTTCATCCCAGGCATGG	0.488000												
HIST1H2AE	3012	broad.mit.edu	37	6	26217505	26217505	+	Silent	SNP	G	G	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:26217505G>C	uc003nha.1	+	1	358	c.303G>C	c.(301-303)GTG>GTC	p.V101V	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577000												
BAT3	7917	broad.mit.edu	37	6	31614268	31614268	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:31614268A>G	uc003nvg.3	-	8	1153	c.839T>C	c.(838-840)CTC>CCC	p.L280P	BAT3_uc003nvf.3_Missense_Mutation_p.L274P|BAT3_uc003nvh.3_Missense_Mutation_p.L274P|BAT3_uc003nvi.3_Missense_Mutation_p.L274P|BAT3_uc011dnw.1_Missense_Mutation_p.L274P|BAT3_uc011dnx.1_Missense_Mutation_p.L274P|BAT3_uc003nvj.1_Missense_Mutation_p.L274P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	280	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TAGCTCCTGGAGCACCTCGAC	0.582000												
ZNF318	24149	broad.mit.edu	37	6	43305127	43305127	+	Silent	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:43305127C>T	uc003oux.2	-	10	6687	c.6609G>A	c.(6607-6609)CTG>CTA	p.L2203L	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2203					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCCCAACTCCAGGGAACTAC	0.468000												
DST	667	broad.mit.edu	37	6	56416992	56416992	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:56416992T>G	uc003pdf.2	-	55	10269	c.10241A>C	c.(10240-10242)AAC>ACC	p.N3414T	DST_uc003pcz.3_Missense_Mutation_p.N3236T|DST_uc011dxj.1_Missense_Mutation_p.N3265T|DST_uc011dxk.1_Missense_Mutation_p.N3276T|DST_uc003pcy.3_Missense_Mutation_p.N2910T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5322	Spectrin 7.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGAACATGTTAAGCTGCTG	0.358000												
GRM1	2911	broad.mit.edu	37	6	146755495	146755495	+	Missense_Mutation	SNP	G	G	A	rs140795616		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:146755495G>A	uc010khw.1	+	9	3618	c.3148G>A	c.(3148-3150)GCG>ACG	p.A1050T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1050	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGATTTTCACGCGGTGCTGGC	0.667000												
LRP11	84918	broad.mit.edu	37	6	150158579	150158579	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:150158579G>A	uc003qng.2	-	4	1258	c.934C>T	c.(934-936)CGC>TGC	p.R312C	LRP11_uc003qnh.1_Missense_Mutation_p.R312C	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	312	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGTAGCGTGAGCAAGTG	0.507000												
SDK1	221935	broad.mit.edu	37	7	4088991	4088991	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:4088991C>T	uc003smx.2	+	18	2753	c.2614C>T	c.(2614-2616)CCC>TCC	p.P872S	SDK1_uc010kso.2_Missense_Mutation_p.P148S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	872	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCCACCGCGCCCCCGCAGAA	0.567000												
GAL3ST4	79690	broad.mit.edu	37	7	99757823	99757823	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:99757823G>A	uc003utt.2	-	3	2206	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R397W|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R335W	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	397	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGCGAGCCCGGAGCTCGGCC	0.607000												
C7orf51	222950	broad.mit.edu	37	7	100086807	100086807	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:100086807C>T	uc003uvd.1	+	4	1622	c.1463C>T	c.(1462-1464)ACG>ATG	p.T488M	C7orf51_uc003uve.1_Missense_Mutation_p.T270M	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	488										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCAAAGACGGAGAAGGAG	0.642000												
GIMAP8	155038	broad.mit.edu	37	7	150171184	150171184	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:150171184G>A	uc003whj.2	+	4	1097	c.767G>A	c.(766-768)CGC>CAC	p.R256H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGGGAAACGCGGTGCTGGA	0.557000												
DUSP26	78986	broad.mit.edu	37	8	33454943	33454943	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:33454943T>C	uc003xjp.2	-	2	424	c.91A>G	c.(91-93)ACC>GCC	p.T31A	DUSP26_uc003xjq.2_Missense_Mutation_p.T31A	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	31						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCTCCAGGGTCCCTCGAGTT	0.542000												
RSPO2	340419	broad.mit.edu	37	8	108972950	108972950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:108972950C>A	uc003yms.2	-	4	1037	c.379G>T	c.(379-381)GAA>TAA	p.E127*	RSPO2_uc003ymq.2_Nonsense_Mutation_p.E60*|RSPO2_uc003ymr.2_Nonsense_Mutation_p.E64*	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	127	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.E127V(1)		skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTGGACATTCATCAAAGCAA	0.368000												
KCNQ3	3786	broad.mit.edu	37	8	133492525	133492525	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:133492525G>A	uc003ytj.2	-	1	480	c.255C>T	c.(253-255)ATC>ATT	p.I85I	KCNQ3_uc010mdt.2_Silent_p.I85I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	85					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAGGAGCCCGATGCCCTGCG	0.682000												
TMEM71	137835	broad.mit.edu	37	8	133759333	133759333	+	Silent	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:133759333G>A	uc003ytp.2	-	5	571	c.342C>T	c.(340-342)TGC>TGT	p.C114C	TMEM71_uc003ytm.1_5'UTR|TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Silent_p.C114C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	114						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAAGGAATGGCAGATTCTCT	0.383000												
CYP11B1	1584	broad.mit.edu	37	8	143957257	143957257	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:143957257G>A	uc003yxi.2	-	6	999	c.992C>T	c.(991-993)GCT>GTT	p.A331V	CYP11B1_uc010mex.2_Missense_Mutation_p.A7V|CYP11B1_uc003yxh.2_Missense_Mutation_p.A47V|CYP11B1_uc003yxj.2_Missense_Mutation_p.A331V|CYP11B1_uc010mey.2_Missense_Mutation_p.A402V	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	331					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGGTTCCGAGCCAGCTCAAA	0.647000									Familial_Hyperaldosteronism_type_I			
SMC5	23137	broad.mit.edu	37	9	72874089	72874089	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr9:72874089G>A	uc004ahr.2	+	1	212	c.95G>A	c.(94-96)AGG>AAG	p.R32K	uc004ahq.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	32					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CCGAGCAAGAGGAAGAATTCG	0.607000												
KCNT1	57582	broad.mit.edu	37	9	138671263	138671263	+	Missense_Mutation	SNP	A	A	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr9:138671263A>G	uc011mdq.1	+	24	2862	c.2788A>G	c.(2788-2790)ATG>GTG	p.M930V	KCNT1_uc011mdr.1_Missense_Mutation_p.M757V|KCNT1_uc010nbf.2_Missense_Mutation_p.M885V|KCNT1_uc004cgo.1_Missense_Mutation_p.M679V	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	930						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATGCGCTTCATGCAGTTCCG	0.627000												
USP51	158880	broad.mit.edu	37	X	55513295	55513295	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chrX:55513295A>T	uc004dun.1	-	2	2157	c.2078T>A	c.(2077-2079)TTA>TAA	p.L693*	USP51_uc011moo.1_Nonsense_Mutation_p.L397*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						ACTGTAGAGTAAGTCCTCAAT	0.428000												
ATP1B1	481	broad.mit.edu	37	1	169096459	169096462	+	Splice_Site	DEL	TAGA	TAGA	-			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:169096458_169096461TTAGA>T	uc001gfr.1	+	4	504	c.383_splice	c.e4-1	p.D128_splice		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	128					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTTTTTATTTTTAGATGTGCCCAG	0.402												
SUV420H1	51111	broad.mit.edu	37	11	67926536	67926536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:67926536delG	uc001onm.1	-	11	1533	c.1277delC	c.(1276-1278)TCAfs	p.S426fs	SUV420H1_uc009yse.1_Frame_Shift_Del_p.S12fs|SUV420H1_uc001onn.1_Frame_Shift_Del_p.S254fs|SUV420H1_uc009ysf.2_Frame_Shift_Del_p.S186fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TAGCTTAGATGAGGTAGAGTT	0.368												
CCDC18	343099	broad.mit.edu	37	1	93705415	93705416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:93705414_93705415A>AG	uc021opx.1	+	20	3103_3104	c.2942_2943A>AG	c.(2941-2943)gaafs	p.E981fs	CCDC18_uc009wdl.1_Frame_Shift_Ins_p.E616fs	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	980										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCATTAGAGGAAAAATACACTA	0.307												
ATP1B1	481	broad.mit.edu	37	1	169096459	169096462	+	Splice_Site	DEL	TAGA	TAGA	-			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:169096458_169096461TTAGA>T	uc001gfr.1	+	4	504	c.383_splice	c.e4-1	p.D128_splice		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	128					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTTTTTATTTTTAGATGTGCCCAG	0.402												
ZNF394	84124	broad.mit.edu	37	7	99091995	99091996	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:99091994_99091995TAG>T	uc003uqs.3	-	2	1004_1005	c.843_844CTA>A	c.(841-846)tctaaafs	p.S281fs	ZNF394_uc003uqt.3_Frame_Shift_Del_p.S74fs	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	281					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCATTATTTTTAGAGTCTTCCC	0.465												
PYGL	5836	broad.mit.edu	37	14	51375622	51375622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr14:51375621_51375621CA>C	uc001wyu.3	-	17	2357	c.2230_2230TG>G	c.(2230-2232)gatfs	p.D744fs	PYGL_uc010tqq.2_Frame_Shift_Del_p.D710fs	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	744					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCAATTTGATCAATGACCAGC	0.433												
