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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	7724545	7724545	+	Silent	SNP	G	G	A	rs142993717		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:7724545G>A	uc001aoi.2	+	9	2145	c.1938G>A	c.(1936-1938)ACG>ACA	p.T646T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGATGCCCACGGTGAAAACGG	0.637		NaN											0	0	0	0.013726	0	33	161				
UBR4	23352	broad.mit.edu	37	1	19497352	19497352	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:19497352C>T	uc001bbi.2	-	26	3551	c.3547G>A	c.(3547-3549)GAA>AAA	p.E1183K	UBR4_uc001bbm.1_Missense_Mutation_p.E394K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1183					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTCCCTCTTCATTAAAGTTT	0.453		NaN											0	0	0	0.01441	0	48	49				
EIF4G3	8672	broad.mit.edu	37	1	21183933	21183933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:21183933C>T	uc001bec.2	-	20	3390	c.3134G>A	c.(3133-3135)CGG>CAG	p.R1045Q	EIF4G3_uc010odi.1_Missense_Mutation_p.R649Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R1044Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R765Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R1081Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R1051Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1045					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCCAGTACCCGACTGTTCTT	0.463		NaN											0	0	0	0.01441	0	101	247				
ARID1A	8289	broad.mit.edu	37	1	27059176	27059176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:27059176C>G	uc001bmv.1	+	4	2186	c.1813C>G	c.(1813-1815)CAA>GAA	p.Q605E	ARID1A_uc001bmt.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmu.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmw.1_Missense_Mutation_p.Q222E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	605					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCTATCTCAAGATTCATT	0.483		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.010729	0	12	73		Valid		
C1orf94	84970	broad.mit.edu	37	1	34663196	34663196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:34663196G>A	uc001bxs.3	+	2	520	c.121G>A	c.(121-123)GAC>AAC	p.D41N	C1orf94_uc001bxt.2_Missense_Mutation_p.D231N	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	41							protein binding				0		Myeloproliferative disorder(586;0.0393)				CATCCTAGGTGACTCCAACTT	0.542		NaN											0	0	0	0.016723	0	14	35				
PPIE	10450	broad.mit.edu	37	1	40214744	40214744	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:40214744C>G	uc001cds.1	+	8	721	c.678C>G	c.(676-678)CTC>CTG	p.L226L	PPIE_uc001cdt.1_Silent_p.L160L|PPIE_uc010oiy.1_Silent_p.L147L|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Silent_p.L226L|PPIE_uc001cdw.2_Silent_p.L226L|PPIE_uc001cdx.1_Silent_p.L142L	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	226	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTATCCTCAAGCATACGG	0.547		NaN											0	0	0	0.008871	0	16	70				
TIE1	7075	broad.mit.edu	37	1	43778257	43778257	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:43778257C>A	uc001ciu.2	+	12	1991	c.1912C>A	c.(1912-1914)CTT>ATT	p.L638I	TIE1_uc010okd.1_Missense_Mutation_p.L638I|TIE1_uc010oke.1_Missense_Mutation_p.L593I|TIE1_uc009vwq.2_Missense_Mutation_p.L594I|TIE1_uc010okf.1_Missense_Mutation_p.L283I|TIE1_uc010okg.1_Missense_Mutation_p.L283I	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	638	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCACACGTGCTTCTGCCCCC	0.657		NaN											1	0	2.44723e-14	0.024334	2.77353e-14	24	29				
MTF2	22823	broad.mit.edu	37	1	93581036	93581036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:93581036G>A	uc009wdj.2	+	6	785	c.493G>A	c.(493-495)GCA>ACA	p.A165T	MTF2_uc001dph.2_Missense_Mutation_p.A63T|MTF2_uc010oth.1_Missense_Mutation_p.A63T|MTF2_uc009wdk.2_Missense_Mutation_p.A165T|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.A63T|MTF2_uc001dpj.3_Missense_Mutation_p.A63T|MTF2_uc001dpl.3_Missense_Mutation_p.A63T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	165						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAGGGGTGGTGCACTTAAGAA	0.393		NaN											0	0	0	0.024245	0	11	33				
GNAI3	2773	broad.mit.edu	37	1	110128959	110128959	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:110128959G>A	uc001dxz.2	+	6	869	c.712G>A	c.(712-714)GAG>AAG	p.E238K		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	238					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GGCTGAGGACGAGGAGATGGT	0.413		NaN											0	0	0	0.007835	0	41	112				
PIP5K1A	8394	broad.mit.edu	37	1	151171506	151171506	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:151171506G>C	uc001exj.2	+	1	486	c.34G>C	c.(34-36)GTC>CTC	p.V12L	PIP5K1A_uc001exi.2_Missense_Mutation_p.V12L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V12L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V12L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	12					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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;0.181)			GTCGTCTTCGGTCGGTTTTTC	0.612		NaN											0	0	0	0.010771	0	44	342				
NTRK1	4914	broad.mit.edu	37	1	156844786	156844786	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:156844786A>T	uc001fqh.1	+	11	1396	c.1340A>T	c.(1339-1341)AAG>ATG	p.K447M	NTRK1_uc001fqf.1_Missense_Mutation_p.K411M|NTRK1_uc009wsi.1_Missense_Mutation_p.K146M|NTRK1_uc001fqi.1_Missense_Mutation_p.K441M|NTRK1_uc009wsk.1_Missense_Mutation_p.K441M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	447	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGGAGAAACAAGTTTGGGATC	0.577		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.017118	0	36	155				
FMO3	2328	broad.mit.edu	37	1	171086520	171086520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:171086520C>T	uc001ghi.2	+	9	1648	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	FMO3_uc001ghh.2_Missense_Mutation_p.H513Y|FMO3_uc010pmb.1_Missense_Mutation_p.H493Y|FMO3_uc010pmc.1_Missense_Mutation_p.H450Y	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTTTTTCCATTGGCTGAA	0.458		NaN											0	0	0	0.01441	0	62	50				
TNR	7143	broad.mit.edu	37	1	175355234	175355234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:175355234C>T	uc001gkp.1	-	6	1792	c.1711G>A	c.(1711-1713)GAG>AAG	p.E571K	TNR_uc009wwu.1_Missense_Mutation_p.E571K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	571	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTGACACCTCGTATCGGGAG	0.637		NaN											0	0	0	0.016723	0	14	206				
SEC16B	89866	broad.mit.edu	37	1	177927476	177927476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:177927476C>T	uc001gli.1	-	10	1246	c.1156G>A	c.(1156-1158)GCT>ACT	p.A386T	SEC16B_uc001glk.1_Missense_Mutation_p.A63T|SEC16B_uc001glh.1_Missense_Mutation_p.A45T|SEC16B_uc009wwz.1_Missense_Mutation_p.A45T|SEC16B_uc001glj.1_Missense_Mutation_p.A387T|SEC16B_uc001gll.3_Missense_Mutation_p.A387T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	386					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						AGCAGCTCAGCGATGTCAGAC	0.572		NaN											0	0	0	0.004482	0	9	100				
LAMC1	3915	broad.mit.edu	37	1	183087279	183087279	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:183087279G>C	uc001gpy.3	+	11	2245	c.1988G>C	c.(1987-1989)AGA>ACA	p.R663T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	663	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAGTGAGAGAAGTAAGTTA	0.353		NaN											0	0	0	0.008291	0	11	41				
PLXNA2	5362	broad.mit.edu	37	1	208234158	208234158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:208234158C>A	uc001hgz.2	-	13	3369	c.2611G>T	c.(2611-2613)GAA>TAA	p.E871*		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	871	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCCTCCTTCCGGCGGTCCA	0.602		NaN											1	0	0.00887093	0.008871	0.00911464	18	29				
RGS7	6000	broad.mit.edu	37	1	240966262	240966262	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:240966262G>A	uc001hyv.2	-	16	1631	c.1301C>T	c.(1300-1302)TCA>TTA	p.S434L	RGS7_uc010pyh.1_Missense_Mutation_p.S408L|RGS7_uc010pyj.1_Missense_Mutation_p.S350L|RGS7_uc001hyu.2_Missense_Mutation_p.S434L|RGS7_uc009xgn.1_Missense_Mutation_p.S381L|RGS7_uc001hyw.2_Missense_Mutation_p.S434L|RGS7_uc001hyt.2_Missense_Mutation_p.S266L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	434	RGS.				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)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACGTGGGTATGAATCACTTTT	0.358		NaN											0	0	0	0.016522	0	23	94				
OR14C36	127066	broad.mit.edu	37	1	248512486	248512486	+	Missense_Mutation	SNP	G	G	C	rs142744958		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248512486G>C	uc010pzl.1	+	1	410	c.410G>C	c.(409-411)CGA>CCA	p.R137P		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGAACTCTCGAATCTGCATC	0.512		NaN											0	0	0	0.016723	0	12	102				
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248637272C>T	uc001iel.1	+	1	621	c.621C>T	c.(619-621)TGC>TGT	p.C207C		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537		NaN											0	0	0	0.01441	0	276	140				
KIAA1274	27143	broad.mit.edu	37	10	72300920	72300920	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr10:72300920C>T	uc001jrd.3	+	16	2252	c.1971C>T	c.(1969-1971)TTC>TTT	p.F657F	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	657										ovary(2)|central_nervous_system(1)	3						GCACTGGCTTCGTGTTCAGCT	0.632		NaN											0	0	0	0.013537	0	13	49				
OR52B2	255725	broad.mit.edu	37	11	6191265	6191265	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6191265C>T	uc010qzy.1	-	1	292	c.292G>A	c.(292-294)GCC>ACC	p.A98T		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGACACAGGCATCAAAAGCA	0.517		NaN											0	0	0	0.006122	0	18	71				
FAM160A2	84067	broad.mit.edu	37	11	6243787	6243787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6243787C>T	uc001mcl.3	-	6	1435	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	FAM160A2_uc001mck.3_Missense_Mutation_p.R359Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R359Q	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	359					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TGAGATACTCCGTAGGAAAAG	0.527		NaN											0	0	0	0.010504	0	17	37				
KCNA4	3739	broad.mit.edu	37	11	30033452	30033452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:30033452G>C	uc001msk.2	-	2	1926	c.774C>G	c.(772-774)TTC>TTG	p.F258L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	258						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCAACTGATAGAACTTCACCT	0.507		NaN											0	0	0	0.012319	0	19	59				
ESRRA	2101	broad.mit.edu	37	11	64082320	64082320	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64082320A>G	uc001nzq.1	+	5	856	c.679A>G	c.(679-681)ACC>GCC	p.T227A	ESRRA_uc001nzr.1_Missense_Mutation_p.T226A|ESRRA_uc001nzs.1_Missense_Mutation_p.T227A|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	227	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						AGCCGTGGCTACCCTCTGTGA	0.612		NaN											0	0	0	0.013537	0	12	21				
TM7SF2	7108	broad.mit.edu	37	11	64882277	64882277	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64882277C>G	uc001oct.2	+	6	843	c.696C>G	c.(694-696)CTC>CTG	p.L232L	TM7SF2_uc010rny.1_Silent_p.L116L|TM7SF2_uc001ocu.2_Silent_p.L232L|TM7SF2_uc001ocv.2_Silent_p.L253L|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	232					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						TCCAGTTGCTCTACGTGGGTG	0.607		NaN											0	0	0	0.010729	0	10	66				
ZNHIT2	741	broad.mit.edu	37	11	64884048	64884048	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884048C>T	uc001ocw.2	-	1	1123	c.1078G>A	c.(1078-1080)GAC>AAC	p.D360N	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	360							metal ion binding			breast(1)	1						CTGGCGCAGTCTAGGGCCAGG	0.647		NaN											0	0	0	0.020292	0	15	64				
ZNHIT2	741	broad.mit.edu	37	11	64884237	64884237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884237C>A	uc001ocw.2	-	1	934	c.889G>T	c.(889-891)GAG>TAG	p.E297*	uc009yqb.1_Silent_p.L36L	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	297							metal ion binding			breast(1)	1						GTCGGGCCCTCGCCCAGCAGG	0.711		NaN											1	0	1.5842e-08	0.016723	1.70256e-08	13	44				
CEP164	22897	broad.mit.edu	37	11	117266864	117266864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117266864C>T	uc001prc.2	+	25	3331	c.3184C>T	c.(3184-3186)CAT>TAT	p.H1062Y	CEP164_uc001prb.2_Missense_Mutation_p.H1065Y|CEP164_uc010rxk.1_Missense_Mutation_p.H1036Y|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.H495Y	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1062					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCCAGATCTCCATATTGAGGA	0.572		NaN											0	0	0	0.008361	0	29	110				
IL10RA	3587	broad.mit.edu	37	11	117864081	117864081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117864081C>T	uc001prv.2	+	4	570	c.493C>T	c.(493-495)CGA>TGA	p.R165*	IL10RA_uc010rxl.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxm.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxn.1_Nonsense_Mutation_p.R16*|IL10RA_uc001prw.2_Nonsense_Mutation_p.R16*	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	165	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CAGTCACTTCCGAGAGTATGA	0.557		NaN											0	0	0	0.013537	0	13	56				
OR10S1	219873	broad.mit.edu	37	11	123848028	123848028	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:123848028G>A	uc001pzm.1	-	1	371	c.371C>T	c.(370-372)ACT>ATT	p.T124I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	124	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAAGCACTCAGTGCTGGCCAG	0.542		NaN											0	0	0	0.004482	0	8	23				
EPS8	2059	broad.mit.edu	37	12	15807190	15807190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:15807190G>T	uc009zif.2	-	13	1233	c.1139C>A	c.(1138-1140)TCA>TAA	p.S380*	EPS8_uc001rdb.2_Nonsense_Mutation_p.S380*|EPS8_uc009zig.2_Nonsense_Mutation_p.S120*|EPS8_uc010shv.1_Nonsense_Mutation_p.S120*	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	380					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACTAAGTACTGAACTGGCTAG	0.383		NaN											1	0	2.61681e-11	0.020292	2.86166e-11	15	68				
ARID2	196528	broad.mit.edu	37	12	46243818	46243818	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46243818G>A	uc001ros.1	+	15	1913	c.1913_splice	c.e15-1	p.G638_splice	ARID2_uc001ror.2_Splice_Site_p.G638_splice|ARID2_uc009zkg.1_Splice_Site_p.G94_splice|ARID2_uc009zkh.1_Splice_Site_p.G265_splice|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTTTCAGGAATCCCTCA	0.333		NaN											0	0	0	0.010818	0	33	53		Valid		
SLC38A2	54407	broad.mit.edu	37	12	46765027	46765027	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46765027C>T	uc001rpg.2	-	2	490	c.50G>A	c.(49-51)AGC>AAC	p.S17N	SLC38A2_uc001rph.2_5'UTR	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	17	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTAGCTGCTGCTGTCTTCATC	0.512		NaN											0	0	0	0.015359	0	33	121				
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:53012246G>A	uc001sas.2	-	1	98	c.63C>T	c.(61-63)TCC>TCT	p.S21S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	21	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642		NaN											0	0	0	0.009535	0	26	52				
HOXC8	3224	broad.mit.edu	37	12	54405067	54405067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:54405067G>A	uc001ser.2	+	2	810	c.631G>A	c.(631-633)GAT>AAT	p.D211N		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	211						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAACAACAAGGATAAACTGCC	0.343		NaN											0	0	0	0.00499	0	17	49				
NEUROD4	58158	broad.mit.edu	37	12	55420612	55420612	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:55420612G>C	uc001sgp.3	+	2	767	c.389G>C	c.(388-390)AGA>ACA	p.R130T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	130	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						GAGACTCTTAGACTGGCCAGG	0.502		NaN											0	0	0	0.00499	0	16	67				
DGKA	1606	broad.mit.edu	37	12	56334764	56334764	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:56334764G>A	uc001sij.2	+	13	1365	c.1101G>A	c.(1099-1101)CGG>CGA	p.R367R	DGKA_uc001sih.1_Silent_p.R255R|DGKA_uc001sii.1_Silent_p.R225R|DGKA_uc009zod.1_Silent_p.R286R|DGKA_uc001sik.2_Silent_p.R367R|DGKA_uc001sil.2_Silent_p.R367R|DGKA_uc001sim.2_Silent_p.R367R|DGKA_uc001sin.2_Silent_p.R367R|DGKA_uc009zof.2_Silent_p.R13R|DGKA_uc001sio.2_Silent_p.R109R	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	367					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AGGCTCTGCGGGTACAGGGCT	0.542		NaN											0	0	0	0.001984	0	7	27				
ERP29	10961	broad.mit.edu	37	12	112451286	112451286	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:112451286C>T	uc001ttk.1	+	1	135	c.17C>T	c.(16-18)CCC>CTC	p.P6L	ERP29_uc001ttl.1_Missense_Mutation_p.P6L|TMEM116_uc001ttc.1_5'Flank|TMEM116_uc001ttd.1_5'Flank|TMEM116_uc001tte.1_5'Flank|TMEM116_uc001ttf.1_5'Flank|TMEM116_uc001ttg.1_5'Flank|TMEM116_uc001tth.1_5'Flank|TMEM116_uc001tti.1_5'Flank|TMEM116_uc001ttj.1_5'Flank	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	6					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						GCCGCTGTGCCCCGCGCCGCA	0.682		NaN											0	0	0	0.020292	0	14	58				
NCOR2	9612	broad.mit.edu	37	12	124820110	124820110	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:124820110T>C	uc010tay.1	-	41	6370	c.6214A>G	c.(6214-6216)ACC>GCC	p.T2072A	NCOR2_uc010taz.1_Missense_Mutation_p.T2056A|NCOR2_uc010tax.1_Missense_Mutation_p.T183A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2073					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGTCGTGGGTCAGACTGGGT	0.677		NaN											0	0	0	0.014758	0	4	21		Valid		
PIWIL1	9271	broad.mit.edu	37	12	130840202	130840202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:130840202G>A	uc001uik.2	+	12	1484	c.1394G>A	c.(1393-1395)GGT>GAT	p.G465D	PIWIL1_uc001uij.1_Missense_Mutation_p.G465D	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	465					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTCACCAAGGTGGAAAAACA	0.249		NaN											0	0	0	0.006214	0	10	106				
GPR133	283383	broad.mit.edu	37	12	131593323	131593323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:131593323G>A	uc001uit.3	+	18	2501	c.1942G>A	c.(1942-1944)GCA>ACA	p.A648T	GPR133_uc010tbm.1_Missense_Mutation_p.A680T|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.A167T|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	648	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGTGCCTTCGCATGGATGCT	0.517		NaN											0	0	0	0.013726	0	31	145				
SPG20	23111	broad.mit.edu	37	13	36909198	36909198	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr13:36909198G>C	uc001uvn.2	-	3	1040	c.770C>G	c.(769-771)TCT>TGT	p.S257C	SPG20_uc010ten.1_Missense_Mutation_p.S257C|SPG20_uc001uvm.2_Missense_Mutation_p.S257C|SPG20_uc001uvo.2_Missense_Mutation_p.S257C|SPG20_uc001uvq.2_Missense_Mutation_p.S257C|SPG20_uc001uvp.2_Missense_Mutation_p.S257C	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	257					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CGTATCGAGAGAATTATCCAA	0.388		NaN											0	0	0	0.017118	0	31	98				
PRMT5	10419	broad.mit.edu	37	14	23393862	23393862	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:23393862G>C	uc001whm.1	-	9	1087	c.996C>G	c.(994-996)ATC>ATG	p.I332M	PRMT5_uc001whl.1_Missense_Mutation_p.I315M|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.I226M|PRMT5_uc010tng.1_Missense_Mutation_p.I271M|PRMT5_uc010tnh.1_Missense_Mutation_p.I288M|PRMT5_uc001whn.1_Missense_Mutation_p.I161M	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	332					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGAGTATTTGATGGGGTCCT	0.478		NaN											0	0	0	0.021553	0	6	52				
YLPM1	56252	broad.mit.edu	37	14	75265975	75265975	+	Silent	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:75265975A>G	uc001xqj.3	+	5	4099	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1130	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTTCGTGAACGGGATATTC	0.443		NaN											0	0	0	0.006122	0	19	64				
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:94964104G>C	uc001ydj.2	-	3	1427	c.631C>G	c.(631-633)CGA>GGA	p.R211G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.219		NaN											0	0	0	0.010504	0	19	64				
HSP90AA1	3320	broad.mit.edu	37	14	102550835	102550835	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:102550835C>G	uc001yku.3	-	6	1238	c.1048G>C	c.(1048-1050)GAT>CAT	p.D350H	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D472H|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D171H|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D339H	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	350					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCAAACAGATCAAAAGGAGCA	0.373		NaN											0	0	0	0.020292	0	15	61				
OTUD7A	161725	broad.mit.edu	37	15	31793915	31793915	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:31793915C>G	uc001zfq.2	-	8	1221	c.1128G>C	c.(1126-1128)CAG>CAC	p.Q376H	OTUD7A_uc001zfr.2_Missense_Mutation_p.Q383H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	376	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGGTCTCTCTGTTCCATGG	0.577		NaN											0	0	0	0.006214	0	9	57				
CASC5	57082	broad.mit.edu	37	15	40917795	40917795	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:40917795G>T	uc010bbs.1	+	11	5572	c.5411G>T	c.(5410-5412)AGA>ATA	p.R1804I	CASC5_uc010ucq.1_Missense_Mutation_p.R1628I|CASC5_uc001zme.2_Missense_Mutation_p.R1778I|CASC5_uc010bbt.1_Missense_Mutation_p.R1778I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1804					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAAAAATCAGAAAAAATGAG	0.333		NaN											1	0	5.9392e-07	0.021553	6.3104e-07	5	37				
CCDC101	112869	broad.mit.edu	37	16	28602255	28602255	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:28602255G>A	uc002dqf.2	+	9	949	c.764G>A	c.(763-765)CGG>CAG	p.R255Q	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	255	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CCCCCACAGCGGGTAAAGCAG	0.617		NaN											0	0	0	0.004672	0	3	13				
PARD6A	50855	broad.mit.edu	37	16	67695381	67695381	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:67695381C>A	uc002ett.2	+	2	178	c.87C>A	c.(85-87)TTC>TTA	p.F29L	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.F29L|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	29	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TCCGACGCTTCGCGCTGCCTC	0.662		NaN											1	0	3.51602e-12	0.008871	3.8905e-12	18	67				
HYDIN	54768	broad.mit.edu	37	16	71220684	71220684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:71220684C>A	uc002ezr.2	-	2	243	c.115G>T	c.(115-117)GAA>TAA	p.E39*	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Nonsense_Mutation_p.E39*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.E56*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.E66*|HYDIN_uc002ezw.3_Nonsense_Mutation_p.E56*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	39										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ACTTCTTCTTCTGTAACCACC	0.413		NaN											1	0	1.08611e-07	0.010729	1.16058e-07	12	65				
SPATA22	84690	broad.mit.edu	37	17	3352265	3352265	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:3352265T>C	uc002fvm.2	-	6	745	c.508A>G	c.(508-510)AAA>GAA	p.K170E	SPATA22_uc010vrg.1_Missense_Mutation_p.K154E|SPATA22_uc010vrf.1_Missense_Mutation_p.K170E|SPATA22_uc002fvn.2_Missense_Mutation_p.K170E|SPATA22_uc002fvo.2_Missense_Mutation_p.K170E|SPATA22_uc002fvp.2_Missense_Mutation_p.K170E|SPATA22_uc010ckf.2_Missense_Mutation_p.K127E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	170											0						TCGGTTTCTTTGTTGCGAGAT	0.403		NaN											0	0	0	0.01441	0	71	175				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7578454G>A	uc002gim.2	-	5	670	c.476C>T	c.(475-477)GCC>GTC	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		GATGGCCATGGCGCGGACGCG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006122	0	16	64		Valid		
CHD3	1107	broad.mit.edu	37	17	7808955	7808955	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7808955G>C	uc002gje.2	+	27	4305	c.4155G>C	c.(4153-4155)AAG>AAC	p.K1385N	CHD3_uc002gjd.2_Missense_Mutation_p.K1444N|CHD3_uc002gjf.2_Missense_Mutation_p.K1385N|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1385					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GACAGTCAAAGAGGCAGCTCC	0.567		NaN											0	0	0	0.021553	0	6	16				
EMILIN2	84034	broad.mit.edu	37	18	2892374	2892374	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:2892374C>T	uc002kln.2	+	4	2408	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	750					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		ACGCTCAGGTCGCATTCCAGA	0.483		NaN											0	0	0	0.008871	0	21	165				
C18orf1	753	broad.mit.edu	37	18	13645279	13645279	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:13645279C>T	uc002ksa.2	+	7	1212	c.544C>T	c.(544-546)CCT>TCT	p.P182S	C18orf1_uc002ksb.2_Missense_Mutation_p.P164S|C18orf1_uc002kse.2_Missense_Mutation_p.P145S|C18orf1_uc002ksf.2_Missense_Mutation_p.P127S|C18orf1_uc002ksg.1_Missense_Mutation_p.P105S|C18orf1_uc002ksh.1_Missense_Mutation_p.P124S|C18orf1_uc002ksi.1_Missense_Mutation_p.P106S	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	182	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		AGAGCCACCTCCTTACCAGGG	0.607		NaN											0	0	0	0.016522	0	23	225				
ASXL3	80816	broad.mit.edu	37	18	31326233	31326233	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:31326233A>G	uc010dmg.1	+	12	6476	c.6421A>G	c.(6421-6423)AAA>GAA	p.K2141E	ASXL3_uc002kxq.2_Missense_Mutation_p.K1848E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGCTGCTCAGAAAATGCAGGT	0.408		NaN											0	0	0	0.012213	0	34	83				
DCC	1630	broad.mit.edu	37	18	50976988	50976988	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:50976988C>T	uc002lfe.1	+	23	3935	c.3348C>T	c.(3346-3348)ATC>ATT	p.I1116I	DCC_uc010dpf.1_Silent_p.I751I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1116	Helical; (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGTGGTCATCGTGGCTGTGA	0.512		NaN											0	0	0	0.008291	0	9	28				
NFATC1	4772	broad.mit.edu	37	18	77170646	77170646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:77170646C>T	uc010xfg.1	+	2	824	c.371C>T	c.(370-372)TCG>TTG	p.S124L	NFATC1_uc002lnc.1_Missense_Mutation_p.S124L|NFATC1_uc010xff.1_Missense_Mutation_p.S124L|NFATC1_uc002lnd.2_Missense_Mutation_p.S124L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S124L|NFATC1_uc010xfi.1_Missense_Mutation_p.S111L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S111L|NFATC1_uc002lng.2_Missense_Mutation_p.S111L|NFATC1_uc010xfk.1_Missense_Mutation_p.S111L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	124					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GAGATAACCTCGTGCTTGGGC	0.627		NaN											0	0	0	0.004482	0	9	50				
SH3GL1	6455	broad.mit.edu	37	19	4362650	4362650	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:4362650G>A	uc002maj.2	-	8	918	c.812C>T	c.(811-813)TCC>TTC	p.S271F	SH3GL1_uc002mak.2_Missense_Mutation_p.S207F|SH3GL1_uc010xig.1_Missense_Mutation_p.S223F	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	271					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCCCCCGTTGGACTGCTCAGG	0.642		NaN	T	MLL	AL								0	0	0	0.028581	0	16	54				
RANBP3	8498	broad.mit.edu	37	19	5931433	5931433	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:5931433A>T	uc002mdw.2	-	8	902	c.675T>A	c.(673-675)GAT>GAA	p.D225E	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.D225E|RANBP3_uc002mdy.2_Missense_Mutation_p.D157E|RANBP3_uc002mdz.2_Missense_Mutation_p.D157E|RANBP3_uc010duq.2_Missense_Mutation_p.D135E|RANBP3_uc002mea.2_Missense_Mutation_p.D97E|RANBP3_uc010xix.1_Missense_Mutation_p.D97E	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	225					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CACACACCTCATCGGCAGCTT	0.652		NaN											0	0	0	0.008871	0	20	27				
ICAM5	7087	broad.mit.edu	37	19	10402336	10402336	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:10402336G>A	uc002mnu.3	+	3	589	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	ICAM5_uc002mnv.3_Missense_Mutation_p.R50Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	175	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAACCACCCCGAGCGCGGGGC	0.731		NaN											0	0	0	0.006214	0	10	54				
UNC13A	23025	broad.mit.edu	37	19	17760337	17760337	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:17760337A>G	uc002nhd.2	-	14	1763	c.1763T>C	c.(1762-1764)ATC>ACC	p.I588T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	500					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CACGAGTGGGATAGGTTTCCT	0.572		NaN											0	0	0	0.023175	0	38	83				
PSG1	5669	broad.mit.edu	37	19	43376193	43376193	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:43376193C>G	uc002ovb.2	-	3	573	c.435G>C	c.(433-435)GAG>GAC	p.E145D	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.E145D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.E145D|PSG1_uc010eio.1_Missense_Mutation_p.E145D|PSG1_uc002oux.1_Missense_Mutation_p.E74D|PSG1_uc002ouy.1_Missense_Mutation_p.E145D|PSG1_uc002ouz.1_Missense_Mutation_p.E145D|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.E145D	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	145					female pregnancy	extracellular region		p.E145G(1)		ovary(2)	2		Prostate(69;0.00682)				GCTTAGGAGTCTCCACTGTGC	0.522		NaN											0	0	0	0.024334	0	28	330				
KLC3	147700	broad.mit.edu	37	19	45854218	45854218	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45854218G>C	uc002pbf.1	+	12	1501	c.1386G>C	c.(1384-1386)AAG>AAC	p.K462N	KLC3_uc010ejy.1_Missense_Mutation_p.K461N|KLC3_uc002pbg.1_Missense_Mutation_p.K476N	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	462						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCAGAATGAAGAGAGCCATGT	0.552		NaN											0	0	0	0.006214	0	9	94				
PPP1R13L	10848	broad.mit.edu	37	19	45895561	45895561	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45895561C>T	uc002pbn.2	-	8	1469	c.1392G>A	c.(1390-1392)CCG>CCA	p.P464P	PPP1R13L_uc002pbm.2_Silent_p.P43P|PPP1R13L_uc002pbo.2_Silent_p.P464P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	464	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCTATCTCCGGCTCAGGCT	0.647		NaN											0	0	0	0.016723	0	13	82				
ZNF419	79744	broad.mit.edu	37	19	58005153	58005153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:58005153G>T	uc002qov.2	+	5	1468	c.1228G>T	c.(1228-1230)GAG>TAG	p.E410*	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Nonsense_Mutation_p.E411*|ZNF419_uc010etz.1_Nonsense_Mutation_p.E398*|ZNF419_uc010eua.1_Nonsense_Mutation_p.E397*|ZNF419_uc002qow.2_Nonsense_Mutation_p.E378*|ZNF419_uc010eub.1_Nonsense_Mutation_p.E365*|ZNF419_uc010euc.1_Nonsense_Mutation_p.E364*	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	410	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATTCTTTAGAGAGAATTCCAC	0.418		NaN											1	0	9.57634e-11	0.01892	1.03513e-10	24	120				
PIGF	5281	broad.mit.edu	37	2	46840834	46840834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46840834C>G	uc002rvd.2	-	3	483	c.319G>C	c.(319-321)GAG>CAG	p.E107Q	PIGF_uc002rvc.2_Missense_Mutation_p.E107Q	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	107					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAAACTTACTCTATCAGTGGT	0.303		NaN											0	0	0	0.009096	0	4	15				
PIGF	5281	broad.mit.edu	37	2	46842192	46842192	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46842192C>G	uc002rvd.2	-	2	276	c.112G>C	c.(112-114)GAA>CAA	p.E38Q	PIGF_uc002rvc.2_Missense_Mutation_p.E38Q|CRIPT_uc002rve.2_5'Flank	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	38					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTGTGTTTCCAATATTGAG	0.348		NaN											0	0	0	0.008871	0	20	118				
PELI1	57162	broad.mit.edu	37	2	64322381	64322381	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:64322381A>C	uc002scs.3	-	6	4751	c.712T>G	c.(712-714)TTA>GTA	p.L238V	PELI1_uc002sct.3_Missense_Mutation_p.L238V|PELI1_uc002scr.3_Missense_Mutation_p.L59V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	238					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						CCATCTTGTAACTGATTGGTT	0.398		NaN											0	0	0	0.01892	0	25	43				
RETSAT	54884	broad.mit.edu	37	2	85570773	85570773	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:85570773A>T	uc002spd.2	-	10	1873	c.1682T>A	c.(1681-1683)CTC>CAC	p.L561H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L500H|RETSAT_uc010fgf.2_Missense_Mutation_p.L352H	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	561					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	TGTCAGATAGAGGTTGGGGAT	0.647		NaN											0	0	0	0.016522	0	21	36				
FHL2	2274	broad.mit.edu	37	2	105979821	105979821	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:105979821G>A	uc002tcu.2	-	5	946	c.609C>T	c.(607-609)CGC>CGT	p.R203R	FHL2_uc002tdc.2_Silent_p.R89R|FHL2_uc002tdd.2_Silent_p.R203R|FHL2_uc002tct.2_Silent_p.R89R|FHL2_uc002tcv.2_Silent_p.R203R|FHL2_uc002tcw.2_Silent_p.R203R|FHL2_uc002tcx.2_Silent_p.R203R|FHL2_uc010fje.2_Silent_p.R116R|FHL2_uc002tcy.2_Silent_p.R203R|FHL2_uc002tcz.2_Silent_p.R313R|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Silent_p.R319R	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	203	LIM zinc-binding 3.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						CAAAGTCATCGCGAGCTGTGA	0.612		NaN											0	0	0	0.009096	0	4	13				
GLI2	2736	broad.mit.edu	37	2	121747574	121747574	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:121747574G>A	uc010flp.2	+	13	4114	c.4084G>A	c.(4084-4086)GCT>ACT	p.A1362T	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1034T|GLI2_uc002tmu.3_Missense_Mutation_p.A1017T	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1362					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GATGGGGGTGGCTACAGCAGG	0.697		NaN											0	0	0	0.009096	0	4	7				
PDE11A	50940	broad.mit.edu	37	2	178936981	178936981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:178936981C>T	uc002ulq.2	-	1	502	c.184G>A	c.(184-186)GCT>ACT	p.A62T	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	62					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GTGCTGTGAGCCAAGCTGCTG	0.627		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.004482	0	9	16				
REM1	28954	broad.mit.edu	37	20	30071976	30071976	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:30071976G>A	uc002wwa.2	+	5	924	c.640G>A	c.(640-642)GCT>ACT	p.A214T	NCRNA00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	214					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCGCCTGCGCTGTGGTGTT	0.617		NaN											0	0	0	0.013537	0	10	6				
ZMYND8	23613	broad.mit.edu	37	20	45905274	45905274	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:45905274C>G	uc002xta.1	-	11	1458	c.1204G>C	c.(1204-1206)GAC>CAC	p.D402H	ZMYND8_uc010ghq.1_Missense_Mutation_p.D79H|ZMYND8_uc010ghr.1_Missense_Mutation_p.D377H|ZMYND8_uc002xst.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsu.1_Missense_Mutation_p.D402H|ZMYND8_uc002xsv.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsw.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsx.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsy.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsz.1_Missense_Mutation_p.D339H|ZMYND8_uc010zxy.1_Missense_Mutation_p.D429H|ZMYND8_uc002xtb.1_Missense_Mutation_p.D422H|ZMYND8_uc002xss.2_Missense_Mutation_p.D402H|ZMYND8_uc010zxz.1_Missense_Mutation_p.D397H|ZMYND8_uc002xtc.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtd.1_Missense_Mutation_p.D397H|ZMYND8_uc002xte.1_Missense_Mutation_p.D402H|ZMYND8_uc010zya.1_Missense_Mutation_p.D402H|ZMYND8_uc002xtf.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtg.2_Missense_Mutation_p.D396H|ZMYND8_uc010ghs.1_Missense_Mutation_p.D396H	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	402							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCCGTCATGTCAAAGTTGAGC	0.582		NaN											0	0	0	0.009718	0	40	133				
C20orf135	140701	broad.mit.edu	37	20	62493636	62493636	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:62493636T>C	uc002ygx.1	+	1	1071	c.743T>C	c.(742-744)GTT>GCT	p.V248A	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	248							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GGCTGGTCTGTTGGCGGCTTC	0.672		NaN											0	0	0	0.00308	0	7	18				
PNPLA3	80339	broad.mit.edu	37	22	44333050	44333050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr22:44333050G>C	uc003bei.1	+	6	1050	c.877G>C	c.(877-879)GCT>CCT	p.A293P	PNPLA3_uc010gzm.1_RNA	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	293	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCTGCCTTGGCTGTGAGGCT	0.617		NaN											0	0	0	0.006214	0	10	29				
HACL1	26061	broad.mit.edu	37	3	15621475	15621475	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:15621475T>C	uc003caf.2	-	9	905	c.745A>G	c.(745-747)ATG>GTG	p.M249V	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M222V|HACL1_uc011avt.1_Missense_Mutation_p.M223V|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M167V|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	249					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						CCCTTCCCCATAGGGGTGGGC	0.443		NaN											0	0	0	0.015359	0	36	55				
GALNTL2	117248	broad.mit.edu	37	3	16268952	16268952	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:16268952G>T	uc003car.3	+	10	2340	c.1865G>T	c.(1864-1866)GGA>GTA	p.G622V	GALNTL2_uc003caq.3_Missense_Mutation_p.G355V|GALNTL2_uc003cas.3_Missense_Mutation_p.G152V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	622	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CCGTGTGATGGAAAAGCCCGC	0.428		NaN											1	0	1.10513e-12	0.014323	1.23012e-12	19	30				
ZNF35	7584	broad.mit.edu	37	3	44692638	44692638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692638G>A	uc003cnq.2	+	2	300	c.79G>A	c.(79-81)GAA>AAA	p.E27K	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	27	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGAAGAAGAAGAAAACTTCCC	0.542		NaN											0	0	0	0.006214	0	10	55				
ZNF35	7584	broad.mit.edu	37	3	44692740	44692740	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692740G>C	uc003cnq.2	+	2	402	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	61	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGGATCAGAAGAGGAAGAAAA	0.537		NaN											0	0	0	0.014758	0	5	38				
TDGF1	6997	broad.mit.edu	37	3	46621463	46621463	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:46621463G>C	uc003cpv.2	+	5	641	c.361G>C	c.(361-363)GAC>CAC	p.D121H	LRRC2_uc003cpu.3_5'UTR	NM_003212	NP_003203	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	121					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGTGCCCCATGACACCTGGCT	0.557		NaN											0	0	0	0.010729	0	12	49				
COL7A1	1294	broad.mit.edu	37	3	48623896	48623896	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:48623896G>C	uc003ctz.2	-	26	3420	c.3419C>G	c.(3418-3420)ACA>AGA	p.T1140R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1140	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGTGAGCTGTGACCACGGC	0.592		NaN											0	0	0	0.01441	0	67	95				
HYAL2	8692	broad.mit.edu	37	3	50357493	50357493	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:50357493C>T	uc003czu.2	-	2	648	c.428G>A	c.(427-429)CGC>CAC	p.R143H	HYAL2_uc003czx.2_Missense_Mutation_p.R143H|HYAL2_uc003czv.2_Missense_Mutation_p.R143H|HYAL2_uc003czw.2_Missense_Mutation_p.R143H|HYAL2_uc010hlj.2_Missense_Mutation_p.R143H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	143						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CTGCCAGTTGCGCACCCACAC	0.592		NaN											0	0	0	0.010504	0	21	98				
GRM2	2912	broad.mit.edu	37	3	51747292	51747292	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:51747292C>G	uc010hlv.2	+	3	1493	c.1254C>G	c.(1252-1254)CTC>CTG	p.L418L	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	418	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCGCCGCCTCTACAAGGACT	0.587		NaN											0	0	0	0.004482	0	9	19				
ALAS1	211	broad.mit.edu	37	3	52248035	52248035	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:52248035G>C	uc003dcy.1	+	12	2100	c.1763_splice	c.e12-1	p.E588_splice	ALAS1_uc003dcz.1_Splice_Site_p.E588_splice|ALAS1_uc011bec.1_Splice_Site_p.E605_splice	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor						heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTCTCCTCAGAGAATCTGCT	0.303		NaN											0	0	0	0.010729	0	11	46				
PLXND1	23129	broad.mit.edu	37	3	129304863	129304863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:129304863C>T	uc003emx.2	-	5	1883	c.1783G>A	c.(1783-1785)GAG>AAG	p.E595K		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	595	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CTGGGGCCCTCGCTGGCACTG	0.657		NaN											0	0	0	0.016522	0	24	94				
NDUFB5	4711	broad.mit.edu	37	3	179322629	179322629	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:179322629G>T	uc003fkc.2	+	1	55	c.26G>T	c.(25-27)CGG>CTG	p.R9L	MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9L	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	9					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTGTTGCGGCGGGTTTCGGTT	0.607		NaN											1	0	0.00621372	0.006214	0.0064197	9	37				
FGFR3	2261	broad.mit.edu	37	4	1803704	1803704	+	Silent	SNP	T	T	C	rs2234909	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1803704T>C	uc003gdr.3	+	7	1138	c.882T>C	c.(880-882)AAT>AAC	p.N294N	FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	294	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.N294N(5)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGAGGTGAATGGCAGCAAGG	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.021553	0	6	23				
WHSC2	7469	broad.mit.edu	37	4	1985773	1985773	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1985773C>T	uc003gem.2	-	9	1377	c.1137G>A	c.(1135-1137)GCG>GCA	p.A379A	WHSC2_uc003gek.2_Silent_p.A105A|WHSC2_uc003gel.2_Silent_p.A293A|WHSC2_uc003gen.2_Silent_p.A233A	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	368					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GCTTGAACTGCGCTGGCAACG	0.716		NaN											0	0	0	0.009096	0	4	14				
RGS12	6002	broad.mit.edu	37	4	3319746	3319746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:3319746C>T	uc003ggw.2	+	2	2753	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*	RGS12_uc003ggu.2_Nonsense_Mutation_p.R617*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.R617*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R617*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	617						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTCCCCATCGAAATGTTCG	0.582		NaN											0	0	0	0.021523	0	27	107				
EVC2	132884	broad.mit.edu	37	4	5570351	5570351	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:5570351G>A	uc003gij.2	-	20	3431	c.3377C>T	c.(3376-3378)TCG>TTG	p.S1126L	EVC2_uc011bwb.1_Missense_Mutation_p.S566L|EVC2_uc003gik.2_Missense_Mutation_p.S1046L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1126						integral to membrane				large_intestine(3)|ovary(2)	5						CGCCAGGTACGATGCCAGTCT	0.577		NaN											0	0	0	0.00308	0	6	11				
NIPAL1	152519	broad.mit.edu	37	4	48035086	48035086	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:48035086G>C	uc003gxw.2	+	4	513	c.447G>C	c.(445-447)TTG>TTC	p.L149F		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	149	Helical; (Potential).					integral to membrane					0						TGGGTGCTTTGAGTGTTCTCA	0.428		NaN											0	0	0	0.013537	0	13	43				
NHEDC1	150159	broad.mit.edu	37	4	103867833	103867833	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:103867833T>C	uc003hww.2	-	5	618	c.496A>G	c.(496-498)ATA>GTA	p.I166V	NHEDC1_uc003hwu.2_Missense_Mutation_p.I166V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	166	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		CCAGCTCTTATTAGAATAATG	0.363		NaN											0	0	0	0.011902	0	45	41				
UGT8	7368	broad.mit.edu	37	4	115544466	115544466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:115544466G>A	uc003ibs.2	+	2	952	c.430G>A	c.(430-432)GGA>AGA	p.G144R	UGT8_uc003ibt.2_Missense_Mutation_p.G144R|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	144					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGATATGTGTGGATTTGTGAT	0.448		NaN											0	0	0	0.01441	0	49	97				
HHIP	64399	broad.mit.edu	37	4	145573799	145573799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145573799G>C	uc003ijs.1	+	2	977	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	HHIP_uc003ijr.1_Missense_Mutation_p.E108Q	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	108						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAAGTTACTGGAGGAAATCAA	0.393		NaN											0	0	0	0.007413	0	19	92				
HHIP	64399	broad.mit.edu	37	4	145635380	145635380	+	Missense_Mutation	SNP	G	G	A	rs147064425		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145635380G>A	uc003ijs.1	+	9	2082	c.1427G>A	c.(1426-1428)AGT>AAT	p.S476N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	476						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTCCAGAAAGTGAGCCATCA	0.353		NaN											0	0	0	0.008291	0	10	34				
NPY5R	4889	broad.mit.edu	37	4	164271826	164271826	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:164271826C>T	uc003iqn.2	+	4	583	c.401C>T	c.(400-402)TCA>TTA	p.S134L		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134	Helical; Name=3; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATATCAATTGCCATT	0.358		NaN											0	0	0	0.025465	0	42	159				
CLCN3	1182	broad.mit.edu	37	4	170608906	170608906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:170608906C>A	uc003isi.2	+	4	925	c.416C>A	c.(415-417)TCA>TAA	p.S139*	CLCN3_uc003ish.2_Nonsense_Mutation_p.S139*|CLCN3_uc011cjz.1_Nonsense_Mutation_p.S122*|CLCN3_uc011cka.1_Nonsense_Mutation_p.S139*|CLCN3_uc003isj.1_Nonsense_Mutation_p.S112*	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	139	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGATTGGCATCAGGTAAAGAA	0.358		NaN											1	0	4.84862e-15	0.010729	5.5286e-15	12	62				
GALNTL6	442117	broad.mit.edu	37	4	173961175	173961175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:173961175C>T	uc003isv.2	+	13	2466	c.1730C>T	c.(1729-1731)TCT>TTT	p.S577F		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	577	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GACCCTCTCTCTGAGACTCAG	0.428		NaN											0	0	0	0.024245	0	16	71				
CDH18	1016	broad.mit.edu	37	5	19571845	19571845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:19571845C>G	uc003jgc.2	-	7	1473	c.1096G>C	c.(1096-1098)GAT>CAT	p.D366H	CDH18_uc003jgd.2_Missense_Mutation_p.D366H|CDH18_uc011cnm.1_Missense_Mutation_p.D366H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	366	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATAGTAGCATCTTTAAAAGGA	0.403		NaN											0	0	0	0.006122	0	19	55				
GHR	2690	broad.mit.edu	37	5	42718627	42718627	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:42718627G>A	uc003jmt.2	+	10	1061	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	GHR_uc011cpq.1_Missense_Mutation_p.D153N	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	340	Cytoplasmic (Potential).|UbE motif.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACAGTGATGACTCTTGGGT	0.378		NaN											0	0	0	0.01441	0	130	143				
CWC27	10283	broad.mit.edu	37	5	64100077	64100077	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:64100077G>C	uc003jtn.1	+	10	1021	c.802G>C	c.(802-804)GAG>CAG	p.E268Q	CWC27_uc003jtl.2_Missense_Mutation_p.E268Q|CWC27_uc003jtm.2_Missense_Mutation_p.E268Q|CWC27_uc010iwt.1_Missense_Mutation_p.E268Q	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	268					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						TGAAAGTGCAGAGCATGATGA	0.368		NaN											0	0	0	0.028581	0	16	31				
F2RL1	2150	broad.mit.edu	37	5	76128611	76128611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:76128611C>G	uc003keo.2	+	2	354	c.179C>G	c.(178-180)TCT>TGT	p.S60C		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	60	Extracellular (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ACAGTCTTTTCTGTGGATGAG	0.438		NaN											0	0	0	0.012213	0	32	71				
ZCCHC9	84240	broad.mit.edu	37	5	80600669	80600669	+	Silent	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:80600669A>C	uc003khj.2	+	2	226	c.93A>C	c.(91-93)GGA>GGC	p.G31G	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.G31G|ZCCHC9_uc003khi.2_Silent_p.G31G	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	31							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCTTTGAGGGAACAAGCCAAA	0.423		NaN											0	0	0	0.012319	0	22	50				
DCP2	167227	broad.mit.edu	37	5	112327847	112327847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:112327847C>G	uc003kqh.2	+	3	433	c.235C>G	c.(235-237)CAA>GAA	p.Q79E	DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	79					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGCTGCCTCAAGGTGAAGA	0.353		NaN											0	0	0	0.014323	0	19	82				
KCNN2	3781	broad.mit.edu	37	5	113698511	113698511	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:113698511G>A	uc003kqo.2	+	1	496	c.39G>A	c.(37-39)CCG>CCA	p.P13P		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	13						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCATGCGGCCGCTCAGCAACT	0.607		NaN											0	0	0	0.004482	0	8	6				
ZBTB22	9278	broad.mit.edu	37	6	33284496	33284496	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:33284496C>T	uc003oeb.2	-	2	350	c.198G>A	c.(196-198)CGG>CGA	p.R66R	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.R66R	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	66	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCCGGAACTCCCGGCCCTGCA	0.592		NaN											0	0	0	0.01441	0	48	70				
BRPF3	27154	broad.mit.edu	37	6	36168155	36168155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:36168155C>T	uc003olv.3	+	2	280	c.56C>T	c.(55-57)TCC>TTC	p.S19F	BRPF3_uc010jwb.2_Missense_Mutation_p.S19F|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.S19F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	19					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CGTTCCCCGTCCCCCTACAGT	0.627		NaN											0	0	0	0.021553	0	6	75				
MDGA1	266727	broad.mit.edu	37	6	37622222	37622222	+	Silent	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622222G>T	uc003onu.1	-	6	1989	c.810C>A	c.(808-810)CTC>CTA	p.L270L	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	270	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						GCAGCTGGGGGAGGGGATCAC	0.647		NaN											1	0	7.45023e-12	0.010504	8.19525e-12	22	41				
MDGA1	266727	broad.mit.edu	37	6	37622284	37622284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622284G>C	uc003onu.1	-	6	1927	c.748C>G	c.(748-750)CTG>GTG	p.L250V	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	250	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TTCACCACCAGAGTTTCGTTC	0.617		NaN											0	0	0	0.010771	0	43	78				
TREM1	54210	broad.mit.edu	37	6	41254347	41254347	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:41254347G>A	uc003oqf.1	-	1	111	c.47C>T	c.(46-48)TCA>TTA	p.S16L	TREM1_uc003oqg.1_Missense_Mutation_p.S16L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	16					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGTCTTACCTGAGACAAAGAG	0.577		NaN											0	0	0	0.006214	0	10	79				
TDRD6	221400	broad.mit.edu	37	6	46660807	46660807	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:46660807C>G	uc003oyj.2	+	1	4942	c.4942C>G	c.(4942-4944)CAA>GAA	p.Q1648E	TDRD6_uc010jze.2_Missense_Mutation_p.Q1642E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1648					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATTATGTTCTCAAGAGGGAAA	0.383		NaN											0	0	0	0.020292	0	14	104				
DST	667	broad.mit.edu	37	6	56391242	56391242	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56391242C>T	uc003pdf.2	-	63	11717	c.11689G>A	c.(11689-11691)GAC>AAC	p.D3897N	DST_uc003pcz.3_Missense_Mutation_p.D3719N|DST_uc011dxj.1_Missense_Mutation_p.D3748N|DST_uc011dxk.1_Missense_Mutation_p.D3759N|DST_uc003pcy.3_Missense_Mutation_p.D3393N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5805					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)			CGCTCATTGTCCTCAGCTACC	0.493		NaN											0	0	0	0.013726	0	35	127				
DST	667	broad.mit.edu	37	6	56420230	56420230	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56420230G>T	uc003pdf.2	-	54	8720	c.8692C>A	c.(8692-8694)CTG>ATG	p.L2898M	DST_uc003pcz.3_Missense_Mutation_p.L2720M|DST_uc011dxj.1_Missense_Mutation_p.L2749M|DST_uc011dxk.1_Missense_Mutation_p.L2760M|DST_uc003pcy.3_Missense_Mutation_p.L2394M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4806					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)			TCTTTAACCAGTGCTGACAAA	0.408		NaN											1	0	4.11147e-13	0.017118	4.60387e-13	33	70				
ZNF451	26036	broad.mit.edu	37	6	57012841	57012841	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:57012841G>C	uc003pdm.1	+	10	2182	c.1958G>C	c.(1957-1959)CGA>CCA	p.R653P	ZNF451_uc003pdl.2_Missense_Mutation_p.R653P|ZNF451_uc003pdn.1_Missense_Mutation_p.R653P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R653P	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	653	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACATTGTACCGACATTGCCAA	0.373		NaN											0	0	0	0.01441	0	57	84				
CASP8AP2	9994	broad.mit.edu	37	6	90573429	90573429	+	Silent	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:90573429T>A	uc003pnr.2	+	7	2197	c.2001T>A	c.(1999-2001)ACT>ACA	p.T667T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T667T|CASP8AP2_uc011dzz.1_Silent_p.T667T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	667					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGACAATACTATGCATTGTG	0.418		NaN											0	0	0	0.010504	0	20	11				
PLEKHG1	57480	broad.mit.edu	37	6	151130805	151130805	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:151130805C>T	uc003qny.1	+	11	1525	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	PLEKHG1_uc011eel.1_Missense_Mutation_p.R445C|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464C|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405C	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	405	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAAGACAAACGCCTCTGGGT	0.473		NaN											0	0	0	0.020292	0	15	27				
SYNE1	23345	broad.mit.edu	37	6	152551705	152551705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:152551705G>A	uc010kiw.2	-	115	21774	c.21172C>T	c.(21172-21174)CAA>TAA	p.Q7058*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6987*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q7058*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058	Cytoplasmic (Potential).|Spectrin 22.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTGCATTTTGAACAGAAGCC	0.388		NaN								HNSCC(10;0.0054)			0	0	0	0.007413	0	15	120				
PLEKHA8	84725	broad.mit.edu	37	7	30094400	30094400	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:30094400C>G	uc003tam.1	+	8	963	c.872C>G	c.(871-873)TCA>TGA	p.S291*	PLEKHA8_uc003tao.2_Nonsense_Mutation_p.S175*|PLEKHA8_uc003tap.1_Nonsense_Mutation_p.S291*|PLEKHA8_uc003tan.2_Nonsense_Mutation_p.S291*	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	291					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CAGTCTGGATCAGACTCAAGT	0.388		NaN											0	0	0	0.014323	0	22	68				
PKD1L1	168507	broad.mit.edu	37	7	47930253	47930253	+	Silent	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:47930253T>C	uc003tny.1	-	16	2562	c.2562A>G	c.(2560-2562)CAA>CAG	p.Q854Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	854	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CACTGAGCCATTGTGCCTCAA	0.602		NaN											0	0	0	0.004482	0	9	41				
ZNF107	51427	broad.mit.edu	37	7	64168367	64168367	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:64168367A>T	uc003ttd.2	+	7	2471	c.1685A>T	c.(1684-1686)AAC>ATC	p.N562I	ZNF107_uc003tte.2_Missense_Mutation_p.N562I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	562	C2H2-type 18; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAAGTTTTTAACCAGTCCTCA	0.348		NaN											0	0	0	0.009535	0	32	50				
ZNF804B	219578	broad.mit.edu	37	7	88965564	88965564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:88965564G>C	uc011khi.1	+	4	3806	c.3268G>C	c.(3268-3270)GAG>CAG	p.E1090Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1090						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATTCAACAGAGACCCAAGA	0.363		NaN								HNSCC(36;0.09)			0	0	0	0.00499	0	18	49				
CADPS2	93664	broad.mit.edu	37	7	122261661	122261661	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:122261661C>T	uc010lkp.2	-	5	1141	c.978G>A	c.(976-978)TCG>TCA	p.S326S	CADPS2_uc003vkg.3_Silent_p.S26S|CADPS2_uc010lkq.2_Silent_p.S326S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	326					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GACCACCTTTCGAAACTGGAA	0.368		NaN											0	0	0	0.028581	0	17	69				
ZC3HC1	51530	broad.mit.edu	37	7	129680811	129680811	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:129680811G>T	uc003vpi.2	-	3	416	c.389C>A	c.(388-390)CCA>CAA	p.P130Q	ZC3HC1_uc003vph.2_Missense_Mutation_p.P17Q|ZC3HC1_uc010lma.2_Missense_Mutation_p.P17Q	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	130	C3HC-type.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					GTCAAAAGCTGGTTGTAAACT	0.418		NaN											1	0	8.88839e-20	0.010818	1.01971e-19	32	129				
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:150171609G>A	uc003whj.2	+	4	1522	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398						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)		CAGATATAGTGCCTTCAACTA	0.443		NaN											0	0	0	0.016522	0	24	110				
DPP6	1804	broad.mit.edu	37	7	154595651	154595651	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:154595651G>C	uc003wlk.2	+	14	1614	c.1485G>C	c.(1483-1485)GAG>GAC	p.E495D	DPP6_uc003wli.2_Missense_Mutation_p.E431D|DPP6_uc003wlm.2_Missense_Mutation_p.E433D|DPP6_uc011kvq.1_Missense_Mutation_p.E388D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	495	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)			CCTACGATGAGAAGGGGAATA	0.502		NaN											0	0	0	0.009096	0	4	12				
ADRA1A	148	broad.mit.edu	37	8	26628136	26628136	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:26628136C>T	uc003xfh.1	-	2	1367	c.931G>A	c.(931-933)GTA>ATA	p.V311I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V311I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V311I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V311I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	311	Helical; Name=7; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V311I(1)		breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGCCAAAATACTATTTTAAAA	0.393		NaN											0	0	0	0.007413	0	19	62				
FZD3	7976	broad.mit.edu	37	8	28384671	28384671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:28384671G>A	uc003xgx.2	+	5	872	c.394G>A	c.(394-396)GAT>AAT	p.D132N	FZD3_uc010lvb.2_Missense_Mutation_p.D132N	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	132	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGGTTCCCAGATTGTGATGA	0.423		NaN											0	0	0	0.009535	0	26	81				
TRPA1	8989	broad.mit.edu	37	8	72946563	72946563	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72946563T>A	uc003xza.2	-	22	2780	c.2605A>T	c.(2605-2607)ACT>TCT	p.T869S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	869	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTCAACAAAGTTTTCAAAATT	0.294		NaN											0	0	0	0.016723	0	14	53				
TRPA1	8989	broad.mit.edu	37	8	72964852	72964852	+	Missense_Mutation	SNP	G	G	A	rs147715599		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72964852G>A	uc003xza.2	-	14	1968	c.1793C>T	c.(1792-1794)ACG>ATG	p.T598M	uc011lff.1_RNA|uc003xyy.2_RNA	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	598	ANK 15.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCTGATGATCGTAAGAACAAC	0.448		NaN											0	0	0	0.016522	0	24	72				
VPS13B	157680	broad.mit.edu	37	8	100866463	100866463	+	Missense_Mutation	SNP	G	G	T	rs149659649	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:100866463G>T	uc003yiv.2	+	56	11032	c.10921G>T	c.(10921-10923)GCT>TCT	p.A3641S	VPS13B_uc003yiw.2_Missense_Mutation_p.A3616S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3641					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTATGCCGCTGGGGCCCT	0.552		NaN											1	0	2.37509e-13	0.010504	2.67556e-13	22	17				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NaN											0	0	0	0.010729	0	8	36				
OPLAH	26873	broad.mit.edu	37	8	145113243	145113243	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:145113243G>A	uc003zar.3	-	7	930	c.848C>T	c.(847-849)TCC>TTC	p.S283F	OPLAH_uc003zat.1_Missense_Mutation_p.S61F	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	283							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACAGCACTGGAGCCGCTGAA	0.687		NaN											0	0	0	0.009096	0	4	10				
TAF1L	138474	broad.mit.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:32633772G>A	uc003zrg.1	-	1	1896	c.1806C>T	c.(1804-1806)ACC>ACT	p.T602T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	602					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483		NaN											0	0	0	0.01441	0	55	126				
ABCA1	19	broad.mit.edu	37	9	107580989	107580989	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:107580989G>A	uc004bcl.2	-	23	3730	c.3417C>T	c.(3415-3417)CTC>CTT	p.L1139L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1139					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCAGGAACTGAGGGAGGATT	0.537		NaN											0	0	0	0.021553	0	6	84				
SVEP1	79987	broad.mit.edu	37	9	113149637	113149637	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:113149637T>C	uc010mtz.2	-	42	10325	c.9988A>G	c.(9988-9990)AGT>GGT	p.S3330G	SVEP1_uc010mty.2_Missense_Mutation_p.S1256G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3330	Sushi 32.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCTTCAAGACTGTAGCCTCTG	0.483		NaN											0	0	0	0.006122	0	19	50				
SPTAN1	6709	broad.mit.edu	37	9	131388859	131388859	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:131388859G>A	uc004bvl.3	+	48	6567	c.6454G>A	c.(6454-6456)GAG>AAG	p.E2152K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2157K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2132K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2152	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCAGCTGGCCGAGCTGGACCG	0.597		NaN											0	0	0	0.013537	0	13	36				
COL5A1	1289	broad.mit.edu	37	9	137710579	137710579	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:137710579G>A	uc004cfe.2	+	55	4690	c.4308G>A	c.(4306-4308)CCG>CCA	p.P1436P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1436	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCCGGACCGGATGGCCTTC	0.697		NaN											0	0	0	0.014758	0	4	12				
NOTCH1	4851	broad.mit.edu	37	9	139393627	139393627	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139393627C>T	uc004chz.2	-	32	6019	c.6019G>A	c.(6019-6021)GTG>ATG	p.V2007M		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2007	ANK 3.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCCCTCCACGGCCAGGCGG	0.657		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.006122	0	18	27				
C9orf172	389813	broad.mit.edu	37	9	139739888	139739888	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139739888C>T	uc011meh.1	+	1	1022	c.1022C>T	c.(1021-1023)TCC>TTC	p.S341F	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	341	Pro-rich.										0						GAACCGCCCTCCCGCTCCTAC	0.701		NaN											0	0	0	0.014758	0	5	17				
NLGN4X	57502	broad.mit.edu	37	X	6069450	6069450	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:6069450T>A	uc010ndh.2	-	2	559	c.58A>T	c.(58-60)ATG>TTG	p.M20L	NLGN4X_uc004crp.2_Missense_Mutation_p.M20L|NLGN4X_uc004crq.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndi.2_Missense_Mutation_p.M20L|NLGN4X_uc004crr.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndj.2_Missense_Mutation_p.M20L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	20					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GAGTTTAACATGACGCAGACC	0.498		NaN											0	0	0	0.027356	0	25	13				
CXorf66	347487	broad.mit.edu	37	X	139038603	139038603	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:139038603C>T	uc004fbb.2	-	3	560	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	180	Cytoplasmic (Potential).					integral to membrane					0						TGTGCCTTTTCCAGGTGAGAT	0.413		NaN											0	0	0	0.01441	0	65	149				
PCDH11Y	83259	broad.mit.edu	37	Y	4968004	4968004	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrY:4968004C>T	uc004fqo.2	+	2	3119	c.2385C>T	c.(2383-2385)TTC>TTT	p.F795F	PCDH11Y_uc010nwg.1_Silent_p.F784F|PCDH11Y_uc004fql.1_Silent_p.F784F|PCDH11Y_uc004fqm.1_Silent_p.F784F|PCDH11Y_uc004fqn.1_Silent_p.F795F|PCDH11Y_uc004fqp.1_Silent_p.F566F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	795	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ATTCTCTCTTCAGTGTTGTAA	0.423		NaN											0	0	0	0.010729	0	8	130				
CCDC83	220047	broad.mit.edu	37	11	85593685	85593685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:85593685delA	uc001pbh.1	+	4	822	c.310delA	c.(310-312)AAGfs	p.K104fs	CCDC83_uc001pbg.1_Frame_Shift_Del_p.K104fs|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Frame_Shift_Del_p.K61fs	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	104	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAAATGGAAGTTTGAAAG	0.378		NaN											NaN	NaN	NaN	NaN	NaN	23	75	---		---	---
TP53	7157	broad.mit.edu	37	17	7577104	7577105	+	Frame_Shift_Ins	INS	-	-	GGACAGGC			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			-	GGACAGGC	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7577104_7577105insGGACAGGC	uc002gim.2	-	8	1027_1028	c.833_834insGCCTGTCC	c.(832-834)CCTfs	p.P278fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P146fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P278fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P278fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P278fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.R280fs*65(2)|p.P278fs*28(2)|p.?(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		GGTCTCTCCCAGGACAGGCACA	0.554		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	10	22	---	Valid	---	---
MBD1	4152	broad.mit.edu	37	18	47802039	47802039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:47802039delG	uc010dow.1	-	8	1160	c.723delC	c.(721-723)CCCfs	p.P241fs	MBD1_uc002lef.2_Frame_Shift_Del_p.P23fs|MBD1_uc002leg.2_Frame_Shift_Del_p.P192fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.P267fs|MBD1_uc002leh.3_Frame_Shift_Del_p.P241fs|MBD1_uc002len.2_Frame_Shift_Del_p.P241fs|MBD1_uc002lei.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lej.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lek.3_Frame_Shift_Del_p.P192fs|MBD1_uc002lel.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lem.3_Frame_Shift_Del_p.P241fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.P241fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.P241fs|MBD1_uc010dox.1_Frame_Shift_Del_p.P241fs|MBD1_uc002leo.2_Frame_Shift_Del_p.P241fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	241	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAAGGCAGATGGGGCAATGGC	0.637		NaN											NaN	NaN	NaN	NaN	NaN	8	48	---		---	---
CCDC138	165055	broad.mit.edu	37	2	109403310	109403310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:109403310delA	uc002ten.1	+	1	92	c.32delA	c.(31-33)CAGfs	p.Q11fs	CCDC138_uc002teo.1_Frame_Shift_Del_p.Q11fs|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	11											0						CCACCGGGGCAGGATTTAGTA	0.667		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:12046124_12046126delAGC	uc003bwm.2	+	1	263_265	c.99_101delAGC	c.(97-102)CAACCG>CAG	p.P40del	SYN2_uc003bwl.1_In_Frame_Del_p.P40del	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	40					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AGCCCCAGCAAGCGCCGAcgccg	0.345		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
INPP4B	8821	broad.mit.edu	37	4	143003291	143003291	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:143003291delG	uc003iix.3	-	26	3130	c.2535delC	c.(2533-2535)GCCfs	p.A845fs	INPP4B_uc003iiw.3_Frame_Shift_Del_p.A845fs|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Frame_Shift_Del_p.A660fs|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	845					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)					TCCTGTCTTTGGCACTTTTAC	0.408		NaN											NaN	NaN	NaN	NaN	NaN	26	53	---		---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:29694802_29694803insT	uc003nno.3	+	7	1303_1304	c.1179_1180insT	c.(1177-1182)TTGTTTfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TGTGGATCTTGTTTTTTTTGTG	0.535		NaN											NaN	NaN	NaN	NaN	NaN	7	330	---		---	---
