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
TXLNA	200081	broad.mit.edu	37	1	32658837	32658837	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:32658837A>T	uc001bui.2	+	9	1252	c.1187A>T	c.(1186-1188)GAG>GTG	p.E396V	TXLNA_uc001buj.2_Missense_Mutation_p.E396V	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	396	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGTTTGAGGAGTTCCAGAAC	0.527000												
JAK1	3716	broad.mit.edu	37	1	65304184	65304184	+	Silent	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:65304184G>C	uc001dbu.1	-	21	3180	c.2931C>G	c.(2929-2931)CTC>CTG	p.L977L	JAK1_uc009wam.1_Silent_p.L965L|JAK1_uc009wal.1_Silent_p.L154L	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	977	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.E966_K989del(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GCTGCTGTTTGAGGTTTATTT	0.358000			Mis		ALL							
ELTD1	64123	broad.mit.edu	37	1	79387436	79387436	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:79387436C>G	uc001diq.3	-	9	1275	c.1119G>C	c.(1117-1119)TGG>TGC	p.W373C		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	373	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398000												
TRIM33	51592	broad.mit.edu	37	1	114968300	114968300	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:114968300T>A	uc001eew.2	-	9	1550	c.1466A>T	c.(1465-1467)AAT>ATT	p.N489I	TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Missense_Mutation_p.N97I|TRIM33_uc001eex.2_Missense_Mutation_p.N489I	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	489					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTACAACATTAGGAGTATA	0.373000			T	RET	papillary thyroid							
GABPB2	126626	broad.mit.edu	37	1	151090703	151090703	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:151090703A>G	uc001ewr.2	+	9	1649	c.1318A>G	c.(1318-1320)AGA>GGA	p.R440G	GABPB2_uc001ews.2_Missense_Mutation_p.R400G|GABPB2_uc001ewt.2_3'UTR	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	440					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GCCTCACACTAGAGTTTCCAT	0.438000												
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:152282658G>A	uc001ezu.1	-	3	4740	c.4704C>T	c.(4702-4704)GCC>GCT	p.A1568A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.|Filaggrin 9.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587000									Ichthyosis			
CHRNB2	1141	broad.mit.edu	37	1	154544415	154544415	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:154544415C>T	uc001ffg.2	+	5	1380	c.1116C>T	c.(1114-1116)GGC>GGT	p.G372G		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	372	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGCGCGAGGGCGCTGGAGCCC	0.716000												
FCRL1	115350	broad.mit.edu	37	1	157771760	157771760	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:157771760C>T	uc001frg.2	-	5	944	c.831G>A	c.(829-831)GAG>GAA	p.E277E	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.E277E|FCRL1_uc001fri.2_Silent_p.E277E|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	277	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATTGTTGGCCTCACAGGAGT	0.567000												
CD5L	922	broad.mit.edu	37	1	157804383	157804383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:157804383G>A	uc001frk.3	-	4	675	c.532C>T	c.(532-534)CAG>TAG	p.Q178*		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	178	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCCCAGCTGCCGGCACACC	0.592000												
KIAA1614	57710	broad.mit.edu	37	1	180905367	180905367	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:180905367A>T	uc001gok.2	+	5	2389	c.2322A>T	c.(2320-2322)GAA>GAT	p.E774D	KIAA1614_uc001gol.1_Missense_Mutation_p.E395D|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	774										ovary(3)|skin(1)	4						AGTCCCTGGAAATTGTCTCTC	0.617000												
ZNF648	127665	broad.mit.edu	37	1	182026306	182026306	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:182026306C>T	uc001goz.2	-	2	1048	c.840G>A	c.(838-840)GCG>GCA	p.A280A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	280	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAGCTCGCACGCGTAGCGCT	0.726000												
KCNT2	343450	broad.mit.edu	37	1	196205114	196205114	+	Splice_Site	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:196205114A>G	uc001gtd.1	-	27	3356	c.3296_splice	c.e27+1	p.V1099_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.V1032_splice|KCNT2_uc001gtf.1_Splice_Site_p.V1075_splice|KCNT2_uc001gtg.1_Splice_Site	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AGATCAACTTACACAACATCA	0.299000												
PPP2R5A	5525	broad.mit.edu	37	1	212534003	212534003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:212534003G>A	uc001hjb.2	+	13	1926	c.1352G>A	c.(1351-1353)CGT>CAT	p.R451H	PPP2R5A_uc010ptd.1_Missense_Mutation_p.R392H	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	451				R -> E (in Ref. 6; AA sequence).	negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAATTGGAACGTGAAGAATTA	0.343000												
FAM71A	149647	broad.mit.edu	37	1	212798999	212798999	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:212798999C>T	uc001hjk.2	+	1	1184	c.780C>T	c.(778-780)CCC>CCT	p.P260P	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	260										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CATCCATCCCCAAAACATCTA	0.383000												
OBSCN	84033	broad.mit.edu	37	1	228509263	228509263	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:228509263C>T	uc009xez.1	+	55	14765	c.14721C>T	c.(14719-14721)ACC>ACT	p.T4907T	OBSCN_uc001hsn.2_Silent_p.T4907T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4907	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TTGGGGACACCGAGGCACAGG	0.612000												
ACTN2	88	broad.mit.edu	37	1	236917358	236917358	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr1:236917358C>G	uc001hyf.2	+	16	2155	c.1951C>G	c.(1951-1953)CCC>GCC	p.P651A	ACTN2_uc001hyg.2_Missense_Mutation_p.P443A|ACTN2_uc009xgi.1_Missense_Mutation_p.P651A|ACTN2_uc010pxu.1_Missense_Mutation_p.P340A|ACTN2_uc001hyh.2_Missense_Mutation_p.P339A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	651	Spectrin 4.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCCATTGGGCCCTGGATCCA	0.612000												
ENKUR	219670	broad.mit.edu	37	10	25279504	25279504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:25279504C>T	uc001isg.1	-	4	647	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	ENKUR_uc001ish.1_Missense_Mutation_p.R99Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	161						cilium|flagellum	calmodulin binding|SH3 domain binding				0						TTCCTCGTTTCGCTTACATAT	0.358000												
FRMPD2	143162	broad.mit.edu	37	10	49393656	49393656	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:49393656C>A	uc001jgi.2	-	18	2406	c.2299G>T	c.(2299-2301)GCT>TCT	p.A767S	FRMPD2_uc001jgh.2_Missense_Mutation_p.A735S|FRMPD2_uc001jgj.2_Missense_Mutation_p.A745S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	767					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCCGGTTCAGCTATAAAGCTC	0.473000												
CSTF2T	23283	broad.mit.edu	37	10	53458048	53458048	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:53458048C>A	uc001jjp.2	-	1	1308	c.1262G>T	c.(1261-1263)CGT>CTT	p.R421L	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	421	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-1.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TTCCATGGCACGAGTCTCCAT	0.527000												
TET1	80312	broad.mit.edu	37	10	70446291	70446291	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:70446291G>C	uc001jok.3	+	11	5736	c.5231G>C	c.(5230-5232)AGA>ACA	p.R1744T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1744					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CGCAAAAAAAGAACGTGTTTC	0.493000												
CDH23	64072	broad.mit.edu	37	10	73538045	73538045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:73538045C>T	uc001jrx.3	+	38	5544	c.5167C>T	c.(5167-5169)CGC>TGC	p.R1723C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1723	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CTTATCCCACCGCCTCACCTC	0.612000												
OIT3	170392	broad.mit.edu	37	10	74658610	74658610	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:74658610G>A	uc001jte.1	+	2	468	c.250G>A	c.(250-252)GCA>ACA	p.A84T	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	84						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGGAACCCACGCACCTGTCTG	0.567000												
PLCE1	51196	broad.mit.edu	37	10	95931103	95931103	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:95931103C>T	uc001kjk.2	+	4	2293	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V	PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	553	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTTGCCAGTCGACTACCTTT	0.542000												
SH3PXD2A	9644	broad.mit.edu	37	10	105526894	105526894	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:105526894C>A	uc001kxj.1	-	3	327	c.187G>T	c.(187-189)GGC>TGC	p.G63C		NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	63	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCTTCTGGCCACCTTCAATG	0.547000												
HSPA12A	259217	broad.mit.edu	37	10	118458177	118458177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr10:118458177G>A	uc001lct.2	-	5	620	c.515C>T	c.(514-516)GCC>GTC	p.A172V	HSPA12A_uc001lcu.2_Missense_Mutation_p.A89V	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	172							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GTACTGCAGGGCATAAGCAAA	0.537000												
MUC2	4583	broad.mit.edu	37	11	1087573	1087573	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:1087573C>T	uc001lsx.1	+	24	3351	c.3324C>T	c.(3322-3324)TGC>TGT	p.C1108C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1108						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGGGGCCTGCGTGTTCTGGA	0.667000												
SERGEF	26297	broad.mit.edu	37	11	18010292	18010292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:18010292C>A	uc001mnm.2	-	8	776	c.696G>T	c.(694-696)GAG>GAT	p.E232D	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Missense_Mutation_p.E232D|SERGEF_uc010rcz.1_Missense_Mutation_p.E118D|SERGEF_uc001mno.1_Missense_Mutation_p.E118D	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	232	RCC1 5.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						AAACATACACCTCTCCTGCAT	0.403000												
AMBRA1	55626	broad.mit.edu	37	11	46430169	46430169	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:46430169C>T	uc010rgu.1	-	17	3657	c.3297G>A	c.(3295-3297)GTG>GTA	p.V1099V	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Silent_p.V1070V|AMBRA1_uc001ncu.1_Silent_p.V1009V|AMBRA1_uc001ncv.2_Silent_p.V1102V|AMBRA1_uc001ncw.2_Silent_p.V980V|AMBRA1_uc001ncx.2_Silent_p.V1039V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1099					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTGAGATGTCACTGAGGTGG	0.602000												
OR1S1	219959	broad.mit.edu	37	11	57982414	57982414	+	Silent	SNP	G	G	A	rs111386724	byFrequency	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:57982414G>A	uc010rkc.1	+	1	198	c.198G>A	c.(196-198)ACG>ACA	p.T66T		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	66	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GCTTGGATACGTACCTTCATA	0.443000												
CNTF	1270	broad.mit.edu	37	11	58391931	58391931	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:58391931C>A	uc001nna.3	+	2	619	c.539C>A	c.(538-540)TCT>TAT	p.S180Y	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	180					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGTTTCATTTCTTCTCATCAG	0.473000												
MYO7A	4647	broad.mit.edu	37	11	76905526	76905526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:76905526C>T	uc001oyb.2	+	32	4552	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	MYO7A_uc010rsm.1_Missense_Mutation_p.T1416M|MYO7A_uc001oyc.2_Missense_Mutation_p.T1427M|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.T638M	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1427	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CCCCTGAAGACGCTGGAGAAG	0.592000												
GRM5	2915	broad.mit.edu	37	11	88300299	88300299	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr11:88300299T>G	uc001pcq.2	-	7	2752	c.2552A>C	c.(2551-2553)AAG>ACG	p.K851T	GRM5_uc009yvm.2_Missense_Mutation_p.K851T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	851	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGGATGACTTGCCATCCCC	0.552000												
B4GALNT3	283358	broad.mit.edu	37	12	666773	666773	+	Splice_Site	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:666773G>C	uc001qii.1	+	16	2381	c.2381_splice	c.e16-1	p.V794_splice	B4GALNT3_uc001qik.1_Splice_Site_p.V343_splice	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCTGGGGTAGTGAAGAACCA	0.552000												
OLR1	4973	broad.mit.edu	37	12	10312524	10312524	+	Silent	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:10312524A>G	uc001qxo.1	-	6	891	c.777T>C	c.(775-777)GCT>GCC	p.A259A	OLR1_uc010sgz.1_3'UTR|OLR1_uc010sha.1_3'UTR	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	259	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						TACTGAAGGCAGCTAAAATGC	0.418000												
ABCC9	10060	broad.mit.edu	37	12	21997801	21997801	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:21997801G>T	uc001rfi.1	-	25	3165	c.3145C>A	c.(3145-3147)CTT>ATT	p.L1049I	ABCC9_uc001rfh.2_Missense_Mutation_p.L1049I|ABCC9_uc001rfj.1_Missense_Mutation_p.L1013I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1049	Helical; Name=13; (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAAGGCAAAGGAAAATGCCT	0.413000												
ANO6	196527	broad.mit.edu	37	12	45797015	45797015	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:45797015A>C	uc001roo.2	+	14	2108	c.1773A>C	c.(1771-1773)AGA>AGC	p.R591S	ANO6_uc010sld.1_Missense_Mutation_p.R591S|ANO6_uc010sle.1_Missense_Mutation_p.R591S|ANO6_uc010slf.1_Missense_Mutation_p.R612S|ANO6_uc010slg.1_Missense_Mutation_p.R573S	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	591	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						GAAAATACAGAAATGAAGAGG	0.338000												
BIN2	51411	broad.mit.edu	37	12	51717838	51717838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:51717838C>T	uc001ryg.2	-	1	101	c.49G>A	c.(49-51)GTG>ATG	p.V17M	BIN2_uc009zlz.2_Missense_Mutation_p.V17M|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Intron	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	17						cytoplasm	protein binding			ovary(1)	1						TTCTTCTGCACCTGCTTGGCG	0.721000												
IKZF4	64375	broad.mit.edu	37	12	56420729	56420729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:56420729G>A	uc001sjb.1	+	5	610	c.451G>A	c.(451-453)GGC>AGC	p.G151S	IKZF4_uc010sqa.1_Missense_Mutation_p.G104S|IKZF4_uc001sjc.1_Missense_Mutation_p.G151S|IKZF4_uc001sjd.1_Missense_Mutation_p.G49S|IKZF4_uc009zoi.1_Missense_Mutation_p.G106S|IKZF4_uc001sje.1_Missense_Mutation_p.G110S	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	151					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCCCCTGGGGGCATCCGGCT	0.587000												
RPH3A	22895	broad.mit.edu	37	12	113316957	113316957	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr12:113316957A>G	uc010syl.1	+	14	1567	c.1205A>G	c.(1204-1206)TAC>TGC	p.Y402C	RPH3A_uc001ttz.2_Missense_Mutation_p.Y402C|RPH3A_uc001tty.2_Missense_Mutation_p.Y398C|RPH3A_uc009zwe.1_Missense_Mutation_p.Y398C|RPH3A_uc010sym.1_Missense_Mutation_p.Y353C|RPH3A_uc001tua.2_Missense_Mutation_p.Y162C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	402	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGCCTTCTCTACGACCAGGAC	0.483000												
TPTE2	93492	broad.mit.edu	37	13	20041401	20041401	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:20041401A>C	uc001umd.2	-	8	687	c.476T>G	c.(475-477)ATT>AGT	p.I159S	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	159	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTCAAAAAAAATGTAAATGAC	0.299000												
SLITRK6	84189	broad.mit.edu	37	13	86369127	86369127	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:86369127A>C	uc001vll.1	-	2	1976	c.1517T>G	c.(1516-1518)CTT>CGT	p.L506R	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	506	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGCAAATCAAGATCATCCAA	0.403000												
COL4A1	1282	broad.mit.edu	37	13	110831620	110831620	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr13:110831620C>A	uc001vqw.3	-	30	2464	c.2342G>T	c.(2341-2343)AGA>ATA	p.R781I	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	781	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GAAGTTACCTCTGATCCCCTG	0.363000												
RNF31	55072	broad.mit.edu	37	14	24624667	24624667	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:24624667G>C	uc001wmn.1	+	13	2598	c.2349G>C	c.(2347-2349)AAG>AAC	p.K783N	RNF31_uc001wml.1_Missense_Mutation_p.K632N|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.K542N|RNF31_uc001wmo.1_Missense_Mutation_p.K250N|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	783	IBR-type 1.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TGTTCCATAAGAAGCTGACCG	0.612000												
DACT1	51339	broad.mit.edu	37	14	59112668	59112668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:59112668G>A	uc001xdw.2	+	4	1491	c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	DACT1_uc010trv.1_Missense_Mutation_p.A162T|DACT1_uc001xdx.2_Missense_Mutation_p.A406T|DACT1_uc010trw.1_Missense_Mutation_p.A162T	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	443					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCCTCAGGCGCTGCCTCCGA	0.597000												
FNTB	2342	broad.mit.edu	37	14	65507581	65507581	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:65507581C>T	uc001xia.2	+	8	931	c.766C>T	c.(766-768)CTG>TTG	p.L256L	FNTB_uc010tsl.1_Silent_p.L290L|FNTB_uc010tsm.1_Silent_p.L210L|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.L12L|FNTB_uc010tso.1_Silent_p.L171L	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	256	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCTGTGGCCTGGCCGCGCT	0.517000												
DYNC1H1	1778	broad.mit.edu	37	14	102478443	102478443	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr14:102478443C>A	uc001yks.2	+	33	7014	c.6850C>A	c.(6850-6852)CTG>ATG	p.L2284M	DYNC1H1_uc001ykt.1_5'Flank	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2284	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CACACACGTGCTGAGAAAGTA	0.498000												
TRPM1	4308	broad.mit.edu	37	15	31318418	31318418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:31318418C>T	uc001zfm.2	-	26	3615	c.3487G>A	c.(3487-3489)GTG>ATG	p.V1163M	TRPM1_uc010azy.2_Missense_Mutation_p.V1070M|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1163	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGCTCCTGCACGCACTGCTCC	0.577000												
MEIS2	4212	broad.mit.edu	37	15	37390190	37390190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:37390190G>A	uc001zjr.2	-	2	1260	c.223C>T	c.(223-225)CGG>TGG	p.R75W	MEIS2_uc001zjl.2_Missense_Mutation_p.R62W|MEIS2_uc010ucj.1_Missense_Mutation_p.R62W|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.R75W|MEIS2_uc001zjp.2_Missense_Mutation_p.R75W|MEIS2_uc001zjs.2_Missense_Mutation_p.R75W|MEIS2_uc001zju.2_Missense_Mutation_p.R62W|MEIS2_uc001zjt.2_Missense_Mutation_p.R75W	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	75					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCCTTGTCCCGCTTCAAGGCG	0.632000												
TTBK2	146057	broad.mit.edu	37	15	43038032	43038032	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:43038032G>A	uc001zqo.2	-	15	4135	c.3696C>T	c.(3694-3696)CCC>CCT	p.P1232P	TTBK2_uc010bcy.2_Silent_p.P1163P|uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1232					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCTTCCCTTGGGGGGTTTTAG	0.542000												
FBN1	2200	broad.mit.edu	37	15	48712976	48712976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:48712976C>T	uc001zwx.1	-	63	8055	c.7727G>A	c.(7726-7728)CGC>CAC	p.R2576H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2576	EGF-like 45; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGCTGGCAGCGGTGGTTACC	0.532000												
FBN1	2200	broad.mit.edu	37	15	48738931	48738931	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:48738931G>T	uc001zwx.1	-	47	6088	c.5760C>A	c.(5758-5760)TTC>TTA	p.F1920L	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1920	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAGAAAGGATGAAACCATGAT	0.408000												
ACAN	176	broad.mit.edu	37	15	89384998	89384998	+	Silent	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr15:89384998C>A	uc010upo.1	+	5	1031	c.657C>A	c.(655-657)GGC>GGA	p.G219G	ACAN_uc002bmx.2_Silent_p.G219G|ACAN_uc010upp.1_Silent_p.G219G|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	219					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCGGGAAGGCTGCTATGGAG	0.562000												
PKD1	5310	broad.mit.edu	37	16	2161261	2161261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:2161261C>T	uc002cos.1	-	15	4116	c.3907G>A	c.(3907-3909)GCC>ACC	p.A1303T	PKD1_uc002cot.1_Missense_Mutation_p.A1303T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1303	PKD 8.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GGGATGCAGGCGGCGGGTTCA	0.706000												
DCI	1632	broad.mit.edu	37	16	2296861	2296861	+	Missense_Mutation	SNP	G	G	C	rs148482178	byFrequency	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:2296861G>C	uc002cpr.2	-	3	329	c.293C>G	c.(292-294)TCG>TGG	p.S98W	DCI_uc002cps.2_Missense_Mutation_p.S98W	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	98					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						AGCACCTACCGAGGTCAGAAT	0.587000												
CREBBP	1387	broad.mit.edu	37	16	3786799	3786799	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:3786799A>T	uc002cvv.2	-	27	4616	c.4412T>A	c.(4411-4413)ATC>AAC	p.I1471N	CREBBP_uc002cvw.2_Missense_Mutation_p.I1433N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1471	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGGCCCAGATGTGCCCTGT	0.512000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CIITA	4261	broad.mit.edu	37	16	11001447	11001447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:11001447C>T	uc002dai.3	+	11	2231	c.2098C>T	c.(2098-2100)CGG>TGG	p.R700W	CIITA_uc002daj.3_Missense_Mutation_p.R701W|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.R700W|CIITA_uc002dah.2_Missense_Mutation_p.R652W|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	700	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						ACACCCACCGCGGGCCGCAGA	0.627000			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
DNAH3	55567	broad.mit.edu	37	16	20976432	20976433	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:20976432_20976433TT>AG	uc010vbe.1	-	53	8773_8774	c.8773_8774AA>CT	c.(8773-8775)AAA>CTA	p.K2925L	DNAH3_uc010vbd.1_Missense_Mutation_p.K360L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2925	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCTCTTTTCTGGTTCAGC	0.545000												
KIF22	3835	broad.mit.edu	37	16	29809747	29809747	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:29809747T>C	uc002dts.3	+	3	343	c.319T>C	c.(319-321)TCA>CCA	p.S107P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.S39P|KIF22_uc010vdw.1_Missense_Mutation_p.S39P|KIF22_uc010bzf.2_Missense_Mutation_p.S39P	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	107	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						CTATGCAGGTTCAGTGCAGCC	0.463000												
DOC2A	8448	broad.mit.edu	37	16	30018255	30018255	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:30018255C>A	uc002dvm.2	-	8	829	c.729G>T	c.(727-729)GAG>GAT	p.E243D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E241D|DOC2A_uc002dvn.2_Missense_Mutation_p.E243D|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E243D|DOC2A_uc002dvp.2_Missense_Mutation_p.E243D|DOC2A_uc002dvq.2_Missense_Mutation_p.E243D	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	243	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						CCTGCCCCTGCTCCGCCTGCT	0.697000												
THAP11	57215	broad.mit.edu	37	16	67876787	67876787	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:67876787G>A	uc002euo.2	+	1	575	c.330G>A	c.(328-330)CAG>CAA	p.Q110Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	110	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcagcagcagcaac	0.303000												
THAP11	57215	broad.mit.edu	37	16	67876796	67876796	+	Silent	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:67876796A>G	uc002euo.2	+	1	584	c.339A>G	c.(337-339)CAA>CAG	p.Q113Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	113	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcaacagcagcaac	0.308000												
CRISPLD2	83716	broad.mit.edu	37	16	84940234	84940234	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr16:84940234G>T	uc010voh.1	+	15	1707	c.1480G>T	c.(1480-1482)GCT>TCT	p.A494S	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.A493S	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	494						extracellular region|transport vesicle					0						CCGGATCTTTGCTGTCAGGCA	0.527000												
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597000		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)		
DNAH2	146754	broad.mit.edu	37	17	7674764	7674764	+	Silent	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:7674764T>G	uc002giu.1	+	27	4493	c.4479T>G	c.(4477-4479)GCT>GCG	p.A1493A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAACAATGCTCTCCGGAGCA	0.537000												
RAB11FIP4	84440	broad.mit.edu	37	17	29848243	29848243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:29848243C>T	uc002hgn.1	+	5	852	c.623C>T	c.(622-624)TCG>TTG	p.S208L	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S106L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	208	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCCACCACCTCGCTCATCAGC	0.582000												
KRT24	192666	broad.mit.edu	37	17	38854498	38854498	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:38854498T>G	uc002hvd.2	-	8	1626	c.1569A>C	c.(1567-1569)AAA>AAC	p.K523N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	523	Tail.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CTTATTTAACTTTCACCTCAG	0.388000												
KLHL10	317719	broad.mit.edu	37	17	40001552	40001552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:40001552C>T	uc010cxr.2	+	3	1001	c.859C>T	c.(859-861)CGC>TGC	p.R287C	KLHL10_uc010wfv.1_Missense_Mutation_p.R281C|KLHL10_uc010wfw.1_Missense_Mutation_p.R199C	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	287						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				CACCAGACCACGCTTGCCCTA	0.512000												
ITGA3	3675	broad.mit.edu	37	17	48156529	48156529	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:48156529G>A	uc010dbl.2	+	20	2954	c.2490G>A	c.(2488-2490)CTG>CTA	p.L830L	ITGA3_uc010dbm.2_Silent_p.L830L	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	830	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GCAAGTGGCTGCTGTATCCCA	0.612000												
TSPAN10	83882	broad.mit.edu	37	17	79612272	79612272	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:79612272C>T	uc010die.2	+	2	381	c.291C>T	c.(289-291)ATC>ATT	p.I97I	TSPAN10_uc002kaw.1_Silent_p.I97I|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	97	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTGGCCATCGGGCTCTGGG	0.677000												
TBCD	6904	broad.mit.edu	37	17	80726295	80726295	+	Splice_Site	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:80726295G>A	uc002kfz.2	+	5	566	c.436_splice	c.e5-1	p.A146_splice	TBCD_uc002kfx.1_Splice_Site_p.A129_splice|TBCD_uc002kfy.1_Splice_Site_p.A146_splice	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D						'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TAATTTTTTAGGCTTGGGAAA	0.517000												
DSG3	1830	broad.mit.edu	37	18	29044178	29044178	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr18:29044178C>T	uc002kws.2	+	9	1213	c.1104C>T	c.(1102-1104)ACC>ACT	p.T368T		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	368	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCAGTCAACCCCAGTCACAA	0.373000												
PQLC1	80148	broad.mit.edu	37	18	77679319	77679319	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr18:77679319C>A	uc002lnl.2	-	5	645	c.473G>T	c.(472-474)GGC>GTC	p.G158V	PQLC1_uc010dre.2_Missense_Mutation_p.G75V|PQLC1_uc002lnk.2_Missense_Mutation_p.G140V|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	158	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGTGATGTAGCCCGCCACGCC	0.622000												
KANK2	25959	broad.mit.edu	37	19	11289026	11289026	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:11289026G>A	uc010dxv.2	-	8	2073	c.1515C>T	c.(1513-1515)AAC>AAT	p.N505N	KANK2_uc002mqm.2_Silent_p.N513N|KANK2_uc002mqo.3_Silent_p.N505N|KANK2_uc002mqp.1_Silent_p.N314N	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	505											0						CTCACCCGCCGTTGACCCCCA	0.637000												
ZNF433	163059	broad.mit.edu	37	19	12128997	12128997	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:12128997C>G	uc002msy.1	-	2	294	c.123G>C	c.(121-123)AGG>AGC	p.R41S	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.R6S	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGCCAGGTTCCTGAAGGTTT	0.418000												
CEBPG	1054	broad.mit.edu	37	19	33870080	33870080	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:33870080G>A	uc002nup.2	+	2	224	c.-65G>A	c.(-67--63)GCGTG>GCATG			NM_001806	NP_001797	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein gamma						B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0	Esophageal squamous(110;0.137)					GCAGCTTAGCGTGGAAACCAT	0.398000												
ZNF420	147923	broad.mit.edu	37	19	37619853	37619853	+	Missense_Mutation	SNP	C	C	A	rs150682748	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:37619853C>A	uc002ofl.2	+	5	2175	c.1960C>A	c.(1960-1962)CGT>AGT	p.R654S		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	654	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTACTCGTGGTTCACA	0.388000												
ACTN4	81	broad.mit.edu	37	19	39218653	39218653	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:39218653A>C	uc002oja.1	+	19	2464	c.2405A>C	c.(2404-2406)GAG>GCG	p.E802A	ACTN4_uc002ojb.1_Missense_Mutation_p.E124A	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	802					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACGACGTGGAGAACGACCGG	0.577000												
SPIB	6689	broad.mit.edu	37	19	50926202	50926202	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:50926202T>A	uc002psd.2	+	4	272	c.247T>A	c.(247-249)TAC>AAC	p.Y83N	SPIB_uc002pse.2_Missense_Mutation_p.Y83N|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	83					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCCCCCACCTACAGCCCTGC	0.687000												
MBOAT7	79143	broad.mit.edu	37	19	54678121	54678121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:54678121C>T	uc002qdq.2	-	9	1302	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.A30T|MBOAT7_uc010yem.1_Missense_Mutation_p.A328T|MBOAT7_uc002qdr.2_Missense_Mutation_p.A346T|MBOAT7_uc002qds.2_Missense_Mutation_p.A273T|MBOAT7_uc010yen.1_Missense_Mutation_p.A273T	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	346					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGGTCCAGGCGCTCCTGAGG	0.463000												
NLRP11	204801	broad.mit.edu	37	19	56329269	56329269	+	Splice_Site	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:56329269C>T	uc010ygf.1	-	4	982	c.271_splice	c.e4+1	p.R91_splice	NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_Splice_Site	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACCCCACTCACGGTTTCGTCT	0.388000												
ZNF835	90485	broad.mit.edu	37	19	57175530	57175530	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr19:57175530A>G	uc010ygo.1	-	2	1103	c.1103T>C	c.(1102-1104)GTG>GCG	p.V368A	ZNF835_uc010ygn.1_Missense_Mutation_p.V346A	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CAGGTGCGACACCTGGGTGAA	0.692000												
ADAM17	6868	broad.mit.edu	37	2	9630307	9630307	+	Nonstop_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:9630307T>A	uc002qzu.2	-	19	2657	c.2474A>T	c.(2473-2475)TAA>TTA	p.*825L	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Nonstop_Mutation_p.*808L|ADAM17_uc010ewz.2_Nonstop_Mutation_p.*168L	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	825					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AGAACTAAATTAGCACTCTGT	0.408000												
ACTG2	72	broad.mit.edu	37	2	74129543	74129543	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:74129543C>A	uc002sjw.2	+	3	305	c.183C>A	c.(181-183)AGC>AGA	p.S61R	ACTG2_uc010fex.1_Missense_Mutation_p.S61R|ACTG2_uc010fey.2_Missense_Mutation_p.S61R|ACTG2_uc010yrn.1_Intron	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	61					muscle contraction	cytoskeleton|cytosol	ATP binding				0						AGGCTCAGAGCAAGCGAGGGA	0.493000												
CTNNA2	1496	broad.mit.edu	37	2	80808879	80808879	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:80808879G>T	uc010ysh.1	+	13	1947	c.1942G>T	c.(1942-1944)GAT>TAT	p.D648Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D280Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	648					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GGAAGATTATGATGTGCGTAG	0.458000												
SPOPL	339745	broad.mit.edu	37	2	139326567	139326567	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:139326567T>A	uc002tvh.2	+	11	1496	c.1096T>A	c.(1096-1098)TTA>ATA	p.L366I		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	366						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TCACCCTCATTTAGTAGCAGA	0.413000												
SLC4A10	57282	broad.mit.edu	37	2	162821608	162821608	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:162821608G>A	uc002ubx.3	+	23	3268	c.3084G>A	c.(3082-3084)ACG>ACA	p.T1028T	SLC4A10_uc002uby.3_Silent_p.T998T|SLC4A10_uc010zcs.1_Silent_p.T1009T	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1028	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGTTGTTCACGAAGCGGGAAC	0.353000												
TTN	7273	broad.mit.edu	37	2	179584365	179584365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:179584365C>T	uc010zfg.1	-	79	20346	c.20122G>A	c.(20122-20124)GAA>AAA	p.E6708K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3369K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7635							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCATTTCGGCACAGGGG	0.403000												
HSPD1	3329	broad.mit.edu	37	2	198362005	198362005	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:198362005T>C	uc002uui.2	-	3	423	c.286A>G	c.(286-288)AAA>GAA	p.K96E	HSPD1_uc002uuj.2_Missense_Mutation_p.K96E|HSPD1_uc010zgx.1_Missense_Mutation_p.K96E|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.K96E|HSPD1_uc010zgy.1_Missense_Mutation_p.K96E|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	96					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			TGAACAAGTTTAGCTCCAATG	0.413000												
ERBB4	2066	broad.mit.edu	37	2	212286786	212286786	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:212286786C>T	uc002veg.1	-	24	3008	c.2910G>A	c.(2908-2910)CTG>CTA	p.L970L	ERBB4_uc002veh.1_Silent_p.L970L|ERBB4_uc010zji.1_Silent_p.L960L|ERBB4_uc010zjj.1_Silent_p.L960L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	970	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTCAGCAGCCAGTTCCTTAA	0.393000										TSP Lung(8;0.080)		
SPEG	10290	broad.mit.edu	37	2	220355285	220355285	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:220355285C>A	uc010fwg.2	+	37	9076	c.9076C>A	c.(9076-9078)CAC>AAC	p.H3026N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3026	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATGTCCCTGCACGAGGCCTA	0.627000												
ADAM33	80332	broad.mit.edu	37	20	3654882	3654882	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:3654882A>G	uc002wit.2	-	7	737	c.650T>C	c.(649-651)GTG>GCG	p.V217A	ADAM33_uc002wir.1_Missense_Mutation_p.V217A|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.V217A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.V140A|ADAM33_uc010zqg.1_Missense_Mutation_p.V229A|ADAM33_uc010zqh.1_Missense_Mutation_p.V217A	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	217	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GTGGTCTGCCACAATGTACAG	0.647000												
RALGAPB	57148	broad.mit.edu	37	20	37137784	37137784	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:37137784C>G	uc002xiw.2	+	6	1062	c.805C>G	c.(805-807)CTG>GTG	p.L269V	RALGAPB_uc010zvz.1_Missense_Mutation_p.L269V|RALGAPB_uc002xix.2_Missense_Mutation_p.L269V|RALGAPB_uc002xiy.1_Missense_Mutation_p.L269V|RALGAPB_uc002xiz.2_Missense_Mutation_p.L47V|RALGAPB_uc002xja.1_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	269					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						AGATGCCAGTCTGATCCCTCC	0.368000												
PTPRT	11122	broad.mit.edu	37	20	40714431	40714431	+	Silent	SNP	G	G	A	rs34623060		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:40714431G>A	uc002xkg.2	-	28	4093	c.3909C>T	c.(3907-3909)TTC>TTT	p.F1303F	PTPRT_uc010ggj.2_Silent_p.F1322F|PTPRT_uc010ggi.2_Silent_p.F506F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1303	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCGGAGACGAACTCCACCT	0.552000												
SLC2A10	81031	broad.mit.edu	37	20	45354654	45354654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:45354654C>T	uc002xsl.2	+	2	1076	c.979C>T	c.(979-981)CCA>TCA	p.P327S		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	327	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGACTCAGGCCCAAGCTGTCT	0.637000												
ARFRP1	10139	broad.mit.edu	37	20	62331861	62331861	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62331861G>A	uc002yga.2	-	7	1107	c.540C>T	c.(538-540)ATC>ATT	p.I180I	ARFRP1_uc002ygc.2_Silent_p.I180I|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.I180I|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	180					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCATCCACTCGATGCCCTCGC	0.697000												
ZGPAT	84619	broad.mit.edu	37	20	62339972	62339972	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62339972C>G	uc002ygk.2	+	2	218	c.40C>G	c.(40-42)CGT>GGT	p.R14G	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygj.2_Missense_Mutation_p.R14G|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.R14G|ZGPAT_uc002ygm.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	14					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGACCTACCGTGCGCAGCT	0.667000												
UCKL1	54963	broad.mit.edu	37	20	62577873	62577873	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr20:62577873G>C	uc010gkn.2	-	2	280	c.237C>G	c.(235-237)ATC>ATG	p.I79M	UCKL1_uc011abm.1_Missense_Mutation_p.I64M|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	79					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGCGGTGTAGATGGTACGCT	0.672000												
DSCAM	1826	broad.mit.edu	37	21	41496224	41496224	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr21:41496224C>T	uc002yyq.1	-	20	4046	c.3594G>A	c.(3592-3594)GCG>GCA	p.A1198A	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1198	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGGCCGCCGCTGCCTTCA	0.597000												
KRTAP10-5	386680	broad.mit.edu	37	21	46000423	46000423	+	Silent	SNP	G	G	A	rs139901000	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr21:46000423G>A	uc002zfl.1	-	1	59	c.33C>T	c.(31-33)AGC>AGT	p.S11S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	11						keratin filament					0						CAGAGCAAGCGCTGGAGCAGA	0.592000												
DEPDC5	9681	broad.mit.edu	37	22	32275619	32275619	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr22:32275619A>G	uc003als.2	+	37	3963	c.3821A>G	c.(3820-3822)CAC>CGC	p.H1274R	DEPDC5_uc011als.1_Missense_Mutation_p.H1205R|DEPDC5_uc011alu.1_Missense_Mutation_p.H1305R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.H1296R|DEPDC5_uc003alu.2_Missense_Mutation_p.H723R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.H572R|DEPDC5_uc011alx.1_Missense_Mutation_p.H122R|DEPDC5_uc010gwk.2_Missense_Mutation_p.H300R|DEPDC5_uc011aly.1_Missense_Mutation_p.H122R	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1274					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GAGCTCGTGCACTCTGAGATT	0.607000												
EPHA3	2042	broad.mit.edu	37	3	89456511	89456511	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:89456511T>G	uc003dqy.2	+	8	1912	c.1687T>G	c.(1687-1689)TTG>GTG	p.L563V	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	563	Helical; (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCTATGTTTTGATTGGGAG	0.428000										TSP Lung(6;0.00050)		
ARHGAP31	57514	broad.mit.edu	37	3	119133443	119133443	+	Silent	SNP	C	C	T	rs140312580	by1000genomes	TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:119133443C>T	uc003ecj.3	+	12	3199	c.2667C>T	c.(2665-2667)GAC>GAT	p.D889D		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	889					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CAGACTGTGACGAAGATGACA	0.562000												
ARHGAP31	57514	broad.mit.edu	37	3	119133998	119133998	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:119133998C>T	uc003ecj.3	+	12	3754	c.3222C>T	c.(3220-3222)AGC>AGT	p.S1074S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1074					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GTTCACCCAGCGTGCAGGACA	0.577000												
NEK11	79858	broad.mit.edu	37	3	130887684	130887684	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:130887684A>G	uc003eny.2	+	13	1513	c.1187A>G	c.(1186-1188)CAT>CGT	p.H396R	NEK11_uc003enx.2_Missense_Mutation_p.H396R|NEK11_uc003eoa.2_Missense_Mutation_p.H396R|NEK11_uc003enz.2_Missense_Mutation_p.H214R|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Missense_Mutation_p.H291R|NEK11_uc011blm.1_Missense_Mutation_p.H396R	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	396					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						GAAAAAACACATTTAAAAGGA	0.453000												
XRN1	54464	broad.mit.edu	37	3	142048403	142048403	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:142048403A>G	uc003eus.2	-	37	4341	c.4274T>C	c.(4273-4275)ATG>ACG	p.M1425T	XRN1_uc010huu.2_Missense_Mutation_p.M892T|XRN1_uc003eut.2_Missense_Mutation_p.M1425T|XRN1_uc003euu.2_Missense_Mutation_p.M1426T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1425					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						CATATTGTCCATAGACTGAAC	0.398000												
SI	6476	broad.mit.edu	37	3	164712098	164712098	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr3:164712098T>A	uc003fei.2	-	41	4850	c.4788A>T	c.(4786-4788)CAA>CAT	p.Q1596H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1596	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTCATGCATTTGTGTGTAAA	0.363000										HNSCC(35;0.089)		
JAKMIP1	152789	broad.mit.edu	37	4	6107560	6107560	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:6107560G>A	uc003giu.3	-	3	540	c.264C>T	c.(262-264)CGC>CGT	p.R88R	JAKMIP1_uc010idb.1_Silent_p.R88R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R88R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R88R|JAKMIP1_uc010ide.2_Silent_p.R88R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	88	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TGAGCCCCTCGCGCAGCGCCT	0.682000												
SLIT2	9353	broad.mit.edu	37	4	20618788	20618788	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:20618788A>T	uc003gpr.1	+	35	4307	c.4103A>T	c.(4102-4104)GAC>GTC	p.D1368V	SLIT2_uc003gps.1_Missense_Mutation_p.D1360V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1368	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCCCTCTGTGACCAACGGACC	0.562000												
GABRG1	2565	broad.mit.edu	37	4	46067511	46067511	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:46067511T>C	uc003gxb.2	-	4	564	c.412A>G	c.(412-414)AAT>GAT	p.N138D		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	138	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCAACCATATTACTGTTAAGC	0.328000												
GABRB1	2560	broad.mit.edu	37	4	47033961	47033961	+	Silent	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:47033961G>A	uc003gxh.2	+	2	485	c.111G>A	c.(109-111)GTG>GTA	p.V37V	GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.V37V|GABRB1_uc010igg.2_RNA	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	37	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCATACGTGAAAGAGACAG	0.448000												
RUFY3	22902	broad.mit.edu	37	4	71654634	71654634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:71654634C>T	uc003hfq.2	+	11	1778	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	RUFY3_uc003hfp.3_Missense_Mutation_p.R455W|RUFY3_uc011cax.1_Missense_Mutation_p.R413W|RUFY3_uc003hfr.2_Missense_Mutation_p.R395W|RUFY3_uc011cay.1_Missense_Mutation_p.R331W	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	395	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GGTATCTCTTCGGCAGCAGCT	0.493000												
PPEF2	5470	broad.mit.edu	37	4	76794425	76794425	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:76794425C>A	uc003hix.2	-	12	1718	c.1361G>T	c.(1360-1362)GGC>GTC	p.G454V	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G454V	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	454	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCCTTGCAGCCCTCTTGAGC	0.443000												
ARHGAP24	83478	broad.mit.edu	37	4	86863309	86863309	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86863309A>T	uc003hpk.2	+	5	931	c.482A>T	c.(481-483)GAC>GTC	p.D161V	ARHGAP24_uc003hpj.2_Missense_Mutation_p.D161V|ARHGAP24_uc003hpl.2_Missense_Mutation_p.D66V|ARHGAP24_uc010ikf.2_Missense_Mutation_p.D76V|ARHGAP24_uc003hpm.2_Missense_Mutation_p.D68V	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	161	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CAGTGCGTGGACTTTATCCGA	0.488000												
ARHGAP24	83478	broad.mit.edu	37	4	86863412	86863412	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86863412G>T	uc003hpk.2	+	5	1034	c.585G>T	c.(583-585)AAG>AAT	p.K195N	ARHGAP24_uc003hpj.2_Missense_Mutation_p.K195N|ARHGAP24_uc003hpl.2_Missense_Mutation_p.K100N|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K110N|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K102N	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	195	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGGGGAGAAGCCATCATTTG	0.473000												
ARHGAP24	83478	broad.mit.edu	37	4	86921732	86921732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:86921732C>T	uc003hpk.2	+	10	2553	c.2104C>T	c.(2104-2106)CGA>TGA	p.R702*	ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R607*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R617*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R609*	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	702	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATAAAAATGCGAAATGCCGA	0.403000												
NHEDC1	150159	broad.mit.edu	37	4	103912856	103912856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:103912856C>A	uc003hww.2	-	2	135	c.13G>T	c.(13-15)GAA>TAA	p.E5*	NHEDC1_uc003hwu.2_Nonsense_Mutation_p.E5*|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	5						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		TTTTTTGATTCTGTGGTATGC	0.269000												
ANK2	287	broad.mit.edu	37	4	114267061	114267061	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:114267061C>T	uc003ibe.3	+	35	4354	c.4254C>T	c.(4252-4254)CGC>CGT	p.R1418R	ANK2_uc003ibd.3_Silent_p.R1409R|ANK2_uc003ibf.3_Silent_p.R1418R|ANK2_uc011cgc.1_Silent_p.R594R|ANK2_uc003ibg.3_Silent_p.R413R|ANK2_uc003ibh.3_Silent_p.R92R|ANK2_uc011cgb.1_Silent_p.R1433R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1385					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAGGTACGCGATACGACTC	0.393000												
KIAA1109	84162	broad.mit.edu	37	4	123271022	123271022	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:123271022G>T	uc003ieh.2	+	78	13687	c.13642G>T	c.(13642-13644)GTC>TTC	p.V4548F	KIAA1109_uc003iem.2_Missense_Mutation_p.V904F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4548					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGAGATTTTCGTCCATGGAGA	0.368000												
FAT4	79633	broad.mit.edu	37	4	126370306	126370306	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:126370306T>A	uc003ifj.3	+	9	8135	c.8135T>A	c.(8134-8136)ATG>AAG	p.M2712K	FAT4_uc011cgp.1_Missense_Mutation_p.M1010K|FAT4_uc003ifi.1_Missense_Mutation_p.M190K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2712	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATGGCAACATGGAAAATAGT	0.373000												
TKTL2	84076	broad.mit.edu	37	4	164393459	164393459	+	Silent	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:164393459G>T	uc003iqp.3	-	1	1589	c.1428C>A	c.(1426-1428)ACC>ACA	p.T476T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	476						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGGTTGGCTGGTTCGAATGA	0.448000												
TLL1	7092	broad.mit.edu	37	4	166795130	166795130	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:166795130T>A	uc003irh.1	+	1	721	c.74T>A	c.(73-75)CTA>CAA	p.L25Q	TLL1_uc011cjn.1_Missense_Mutation_p.L25Q|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	25					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGGGGAGCTATGGGTCTGC	0.542000												
AADAT	51166	broad.mit.edu	37	4	170985953	170985953	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:170985953C>G	uc003isr.2	-	11	1393	c.1051G>C	c.(1051-1053)GCT>CCT	p.A351P	AADAT_uc003iss.2_Missense_Mutation_p.A351P|AADAT_uc003ist.2_Missense_Mutation_p.A355P	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	351					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTCCAGCAGCAGGAACATGC	0.368000												
HTR1A	3350	broad.mit.edu	37	5	63256773	63256773	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:63256773C>T	uc011cqt.1	-	1	774	c.774G>A	c.(772-774)TCG>TCA	p.S258S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	258	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCTGCTCCCCGACTCTCCAT	0.657000												
SLCO6A1	133482	broad.mit.edu	37	5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:101709135C>T	uc003knn.2	-	13	2253	c.2081G>A	c.(2080-2082)CGT>CAT	p.R694H	SLCO6A1_uc003kno.2_Missense_Mutation_p.R441H|SLCO6A1_uc003knp.2_Missense_Mutation_p.R694H|SLCO6A1_uc003knq.2_Missense_Mutation_p.R632H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	694	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323000												
SPARC	6678	broad.mit.edu	37	5	151051184	151051184	+	Missense_Mutation	SNP	C	C	T	rs142207246		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:151051184C>T	uc003luh.2	-	4	304	c.280G>A	c.(280-282)GTG>ATG	p.V94M	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Intron|SPARC_uc003lui.2_Missense_Mutation_p.V94M	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	94	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCCTGGCACACGCACATGGGG	0.597000												
DOCK2	1794	broad.mit.edu	37	5	169188588	169188588	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr5:169188588C>A	uc003maf.2	+	25	2593	c.2513C>A	c.(2512-2514)TCT>TAT	p.S838Y	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S330Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	838					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGTACAGTCTATGAATGAG	0.483000												
TRIM27	5987	broad.mit.edu	37	6	28872099	28872099	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:28872099C>T	uc003nlr.2	-	8	1649	c.1290G>A	c.(1288-1290)CGG>CGA	p.R430R	TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	430	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						GGAGCGGGGTCCGCAGGGGTA	0.537000			T	RET	papillary thyroid							
DHX16	8449	broad.mit.edu	37	6	30638885	30638885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:30638885C>T	uc003nqz.2	-	2	586	c.374G>A	c.(373-375)CGG>CAG	p.R125Q	DHX16_uc011dmo.1_Missense_Mutation_p.R65Q	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	125					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						GAGGTGTTTCCGCTTTTTACG	0.488000												
FRS3	10817	broad.mit.edu	37	6	41738614	41738614	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:41738614C>A	uc003orc.1	-	7	1466	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	408					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTCGGGCCCCGGCCGGCGG	0.687000												
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:44270564G>A	uc010jza.1	-	17	2342	c.2339C>T	c.(2338-2340)GCC>GTC	p.A780V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	780					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCAGTGACGGCCAGCAGGCG	0.627000												
KCNQ5	56479	broad.mit.edu	37	6	73900347	73900347	+	Silent	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:73900347A>T	uc003pgk.2	+	12	1976	c.1629A>T	c.(1627-1629)CCA>CCT	p.P543P	KCNQ5_uc011dyh.1_Silent_p.P562P|KCNQ5_uc011dyi.1_Silent_p.P553P|KCNQ5_uc010kat.2_Silent_p.P534P|KCNQ5_uc011dyj.1_Silent_p.P433P|KCNQ5_uc011dyk.1_Silent_p.P293P	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	543					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATTACGTCCATATGATGTAA	0.303000												
CCNC	892	broad.mit.edu	37	6	100009499	100009499	+	Silent	SNP	C	C	T	rs142699138		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:100009499C>T	uc003pqe.2	-	3	485	c.198G>A	c.(196-198)ACG>ACA	p.T66T	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.T66T|CCNC_uc011eah.1_5'UTR|CCNC_uc003pqf.2_Silent_p.T66T	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	66	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TGAAATATACCGTAGCAGTGG	0.299000												
TPD52L1	7164	broad.mit.edu	37	6	125584070	125584070	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:125584070G>C	uc003pzu.1	+	7	796	c.577G>C	c.(577-579)GGC>CGC	p.G193R	TPD52L1_uc003pzv.1_3'UTR|TPD52L1_uc003pzw.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.G164R|TPD52L1_uc003pzz.1_3'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	193					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTTGGCAGGAGGCTCCCGGCG	0.612000												
C6orf174	387104	broad.mit.edu	37	6	127796864	127796864	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:127796864C>T	uc003qbd.2	-	6	3172	c.2307G>A	c.(2305-2307)CCG>CCA	p.P769P	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	769						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GCTTGCGGTGCGGAGGCCGCG	0.731000												
PCLO	27445	broad.mit.edu	37	7	82579130	82579130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:82579130G>A	uc003uhx.2	-	6	11063	c.10774C>T	c.(10774-10776)CGC>TGC	p.R3592C	PCLO_uc003uhv.2_Missense_Mutation_p.R3592C|PCLO_uc010lec.2_Missense_Mutation_p.R557C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTGTTGGGCGTTTCTTGTCT	0.483000												
ABCB1	5243	broad.mit.edu	37	7	87179782	87179782	+	Splice_Site	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:87179782A>G	uc003uiz.1	-	12	1642	c.1224_splice	c.e12+1	p.K408_splice	ABCB1_uc011khc.1_Splice_Site_p.K344_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTATCACTGTACCTTAACTTC	0.313000												
CCDC132	55610	broad.mit.edu	37	7	92887535	92887535	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:92887535A>G	uc003umo.2	+	7	615	c.487A>G	c.(487-489)AAA>GAA	p.K163E	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.K133E|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.K163E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	163											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCAAAGGAAACGTCAGTT	0.308000												
OR2AE1	81392	broad.mit.edu	37	7	99473925	99473925	+	Silent	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:99473925G>T	uc003usc.1	-	1	732	c.732C>A	c.(730-732)CTC>CTA	p.L244L		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACCACCGTGAGGTGGGAGC	0.478000												
CUX1	1523	broad.mit.edu	37	7	101821910	101821910	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:101821910G>T	uc003uyx.3	+	11	1028	c.990G>T	c.(988-990)CAG>CAT	p.Q330H	CUX1_uc003uys.3_Missense_Mutation_p.Q341H|CUX1_uc003uyt.2_Missense_Mutation_p.Q341H|CUX1_uc011kkn.1_Missense_Mutation_p.Q302H|CUX1_uc003uyw.2_Missense_Mutation_p.Q295H|CUX1_uc003uyv.2_Missense_Mutation_p.Q325H|CUX1_uc003uyu.2_Missense_Mutation_p.Q339H	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	330	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TTGAGCAGCAGCTGAGCGCCA	0.647000												
AASS	10157	broad.mit.edu	37	7	121773576	121773576	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:121773576C>G	uc003vka.2	-	1	301	c.205G>C	c.(205-207)GAT>CAT	p.D69H	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.D69H|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	69	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCACCTTATCATGAATGGCC	0.423000												
GIMAP6	474344	broad.mit.edu	37	7	150325053	150325053	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:150325053T>G	uc003whn.2	-	3	1057	c.633A>C	c.(631-633)CAA>CAC	p.Q211H	GIMAP6_uc003whm.2_Missense_Mutation_p.Q131H	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	211							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCTCGCAGTTGGGCCTCCT	0.537000												
ABCB8	11194	broad.mit.edu	37	7	150733041	150733041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr7:150733041C>T	uc003wil.3	+	8	1144	c.1051C>T	c.(1051-1053)CAA>TAA	p.Q351*	ABCB8_uc003wii.2_Nonsense_Mutation_p.Q371*|ABCB8_uc003wij.3_Nonsense_Mutation_p.Q334*|ABCB8_uc010lpw.1_Missense_Mutation_p.A199V|ABCB8_uc010lpx.2_Nonsense_Mutation_p.Q334*|ABCB8_uc011kvd.1_Nonsense_Mutation_p.Q246*|ABCB8_uc003wim.3_Nonsense_Mutation_p.Q129*|ABCB8_uc003wik.3_Nonsense_Mutation_p.Q334*	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	351	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCATGGAGCAACGGGAAGA	0.632000												
RNF122	79845	broad.mit.edu	37	8	33416224	33416224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:33416224G>A	uc003xjo.1	-	2	493	c.91C>T	c.(91-93)CAG>TAG	p.Q31*		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	31						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GGAAGGTCCTGGAAACTGATG	0.483000												
SOX17	64321	broad.mit.edu	37	8	55371955	55371955	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:55371955C>T	uc003xsb.3	+	2	849	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	215					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTCCGCTCGACGGCTACCCGT	0.766000												
TRPA1	8989	broad.mit.edu	37	8	72951146	72951146	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:72951146C>A	uc003xza.2	-	19	2424	c.2249G>T	c.(2248-2250)GGC>GTC	p.G750V	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	750	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATTGATGATGCCAGTTGAGTT	0.308000												
UBR5	51366	broad.mit.edu	37	8	103297970	103297970	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:103297970A>C	uc003ykr.1	-	39	5288	c.5255T>G	c.(5254-5256)TTA>TGA	p.L1752*	UBR5_uc003yks.1_Nonsense_Mutation_p.L1752*	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1752					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACTCCGGCGTAAGTTTGAAGG	0.458000												
CSMD3	114788	broad.mit.edu	37	8	113933973	113933973	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:113933973A>C	uc003ynu.2	-	10	1675	c.1516T>G	c.(1516-1518)TCA>GCA	p.S506A	CSMD3_uc003ynt.2_Missense_Mutation_p.S466A|CSMD3_uc011lhx.1_Missense_Mutation_p.S402A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	506	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGCACAGTTGATCCAAGGCTA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116427158	116427158	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:116427158A>C	uc003ynz.2	-	6	3398	c.2939T>G	c.(2938-2940)TTA>TGA	p.L980*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.L984*|TRPS1_uc003yny.2_Nonsense_Mutation_p.L993*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.L980*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	980					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTCCTCTCTAACGGGCTTCC	0.493000									Langer-Giedion_syndrome			
HAS2	3037	broad.mit.edu	37	8	122626532	122626532	+	Silent	SNP	C	C	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:122626532C>G	uc003yph.2	-	4	2014	c.1476G>C	c.(1474-1476)GTG>GTC	p.V492V		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	492	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGTGAAAATCACACCACCCA	0.413000												
LRRC6	23639	broad.mit.edu	37	8	133584696	133584696	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr8:133584696G>T	uc003ytk.2	-	12	1333	c.1259C>A	c.(1258-1260)CCT>CAT	p.P420H	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	420						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGCTTGCTAGGGTCTACTTC	0.368000												
CA9	768	broad.mit.edu	37	9	35680798	35680798	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:35680798T>C	uc003zxo.3	+	10	1328	c.1286T>C	c.(1285-1287)GTC>GCC	p.V429A	CA9_uc003zxp.3_Missense_Mutation_p.V420A	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	429	Helical; (Potential).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCACCAGCGTCGCGTTCCTT	0.547000												
ZNF484	83744	broad.mit.edu	37	9	95609461	95609461	+	Silent	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:95609461C>T	uc004asu.1	-	5	1757	c.1608G>A	c.(1606-1608)AAG>AAA	p.K536K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.K538K|ZNF484_uc010mrb.1_Silent_p.K500K|ZNF484_uc004asv.1_Silent_p.K500K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	536	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGCCGAGACTTCCAGGTGA	0.403000												
PTCH1	5727	broad.mit.edu	37	9	98240429	98240429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:98240429C>T	uc004avk.3	-	9	1443	c.1255G>A	c.(1255-1257)GTG>ATG	p.V419M	PTCH1_uc010mro.2_Missense_Mutation_p.V268M|PTCH1_uc010mrp.2_Missense_Mutation_p.V268M|PTCH1_uc010mrq.2_Missense_Mutation_p.V268M|PTCH1_uc004avl.3_Missense_Mutation_p.V268M|PTCH1_uc010mrr.2_Missense_Mutation_p.V353M|PTCH1_uc004avm.3_Missense_Mutation_p.V418M|PTCH1_uc010mrs.1_Missense_Mutation_p.V139M	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	419	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGAAAGCACCTTTTGAGTG	0.517000									Basal_Cell_Nevus_syndrome			
TDRD7	23424	broad.mit.edu	37	9	100257957	100257957	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:100257957A>G	uc004axj.2	+	17	3314	c.3089A>G	c.(3088-3090)AAC>AGC	p.N1030S	TDRD7_uc011lux.1_Missense_Mutation_p.N956S|TDRD7_uc011luy.1_Missense_Mutation_p.N350S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1030	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				GTGAAGTGCAACCAGTGGTCT	0.448000												
SVEP1	79987	broad.mit.edu	37	9	113265372	113265372	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:113265372T>C	uc010mtz.2	-	6	1766	c.1429A>G	c.(1429-1431)AAG>GAG	p.K477E	SVEP1_uc010mua.1_Missense_Mutation_p.K477E|SVEP1_uc004beu.2_Missense_Mutation_p.K477E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	477	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CAAGTAAGCTTATCACTGCCT	0.463000												
TLR4	7099	broad.mit.edu	37	9	120475724	120475724	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:120475724T>G	uc004bjz.2	+	3	1609	c.1318T>G	c.(1318-1320)TTT>GTT	p.F440V	TLR4_uc004bka.2_Missense_Mutation_p.F400V|TLR4_uc004bkb.2_Missense_Mutation_p.F240V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	440	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AATGAGTGAGTTTTCAGTATT	0.388000												
C5	727	broad.mit.edu	37	9	123785724	123785724	+	Silent	SNP	A	A	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr9:123785724A>C	uc004bkv.2	-	10	1104	c.1074T>G	c.(1072-1074)GCT>GCG	p.A358A	C5_uc010mvm.1_Silent_p.A358A|C5_uc010mvn.1_Silent_p.A358A	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	358					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGAGGAGTAGCAACCAAAT	0.438000												
ASMTL	8623	broad.mit.edu	37	X	1557992	1557992	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:1557992C>T	uc004cpx.1	-	3	382	c.271G>A	c.(271-273)GTG>ATG	p.V91M	ASMTL_uc011mhe.1_Silent_p.S36S|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Missense_Mutation_p.V33M	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	91	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACTCACCACGATCGTGTCC	0.547000												
DMD	1756	broad.mit.edu	37	X	32366552	32366552	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:32366552G>T	uc004dda.1	-	38	5663	c.5419C>A	c.(5419-5421)CTG>ATG	p.L1807M	DMD_uc004dcw.2_Missense_Mutation_p.L463M|DMD_uc004dcx.2_Missense_Mutation_p.L466M|DMD_uc004dcz.2_Missense_Mutation_p.L1684M|DMD_uc004dcy.1_Missense_Mutation_p.L1803M|DMD_uc004ddb.1_Missense_Mutation_p.L1799M|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1807	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTCTTTCAGATTCACCCCC	0.358000												
DMD	1756	broad.mit.edu	37	X	32583888	32583888	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:32583888T>G	uc004dda.1	-	16	2167	c.1923A>C	c.(1921-1923)GAA>GAC	p.E641D	DMD_uc004dcz.2_Missense_Mutation_p.E518D|DMD_uc004dcy.1_Missense_Mutation_p.E637D|DMD_uc004ddb.1_Missense_Mutation_p.E633D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E633D	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	641	Spectrin 3.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGCCATGCTTCCGTCTTCT	0.403000												
DGKK	139189	broad.mit.edu	37	X	50111946	50111946	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:50111946T>G	uc010njr.1	-	29	3869	c.3809A>C	c.(3808-3810)CAA>CCA	p.Q1270P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1270	PDZ-binding.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GGGCTACAGTTGAGATCTCGA	0.393000												
MTMR8	55613	broad.mit.edu	37	X	63444310	63444310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:63444310C>T	uc011mou.1	-	11	2055	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	ASB12_uc004dvp.1_Missense_Mutation_p.V279I|ASB12_uc004dvq.1_Missense_Mutation_p.V288I|ASB12_uc004dvr.1_Missense_Mutation_p.V288I	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						GCTCTGCGGACGACTAAACGG	0.493000												
AR	367	broad.mit.edu	37	X	66765645	66765645	+	Silent	SNP	T	T	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:66765645T>G	uc004dwu.1	+	1	1772	c.657T>G	c.(655-657)ACT>ACG	p.T219T	AR_uc011mpd.1_Silent_p.T219T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.T219T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	217	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGGCTCCCACTTCCTCCAAGG	0.602000									Androgen_Insensitivity_Syndrome			
AR	367	broad.mit.edu	37	X	66766242	66766242	+	Silent	SNP	T	T	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:66766242T>A	uc004dwu.1	+	1	2369	c.1254T>A	c.(1252-1254)GGT>GGA	p.G418G	AR_uc011mpd.1_Silent_p.G418G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G418G	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	416	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATGGCGCGGGTGCAGCGGGAC	0.662000									Androgen_Insensitivity_Syndrome			
MED12	9968	broad.mit.edu	37	X	70361778	70361778	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:70361778G>A	uc004dyy.2	+	44	6653	c.6454G>A	c.(6454-6456)GCA>ACA	p.A2152T	NLGN3_uc010nlb.1_5'Flank|NLGN3_uc004dzb.2_5'Flank|NLGN3_uc004dzc.2_5'Flank|MED12_uc004dyz.2_Missense_Mutation_p.A2151T|MED12_uc004dza.2_Missense_Mutation_p.A2002T|MED12_uc010nla.2_Missense_Mutation_p.A781T	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2152	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCAACAGACAGCAGCTTTGGT	0.542000												
LPAR4	2846	broad.mit.edu	37	X	78011061	78011061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:78011061G>A	uc010nme.2	+	2	1100	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	232	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						AGAACTCTTCGCAAGCCTGCT	0.373000												
GUCY2F	2986	broad.mit.edu	37	X	108635293	108635293	+	Silent	SNP	T	T	C			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:108635293T>C	uc004eod.3	-	14	2904	c.2628A>G	c.(2626-2628)GAA>GAG	p.E876E	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	876	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AGCCCTCAGGTTCAACTGTGC	0.488000												
UTP14A	10813	broad.mit.edu	37	X	129060230	129060230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:129060230C>T	uc004euz.2	+	14	1986	c.1958C>T	c.(1957-1959)GCC>GTC	p.A653V	UTP14A_uc011mup.1_Missense_Mutation_p.A601V|UTP14A_uc011muq.1_Missense_Mutation_p.A599V	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	653					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CTCATTAAAGCCCCTGAGGGT	0.473000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAGEC3	139081	broad.mit.edu	37	X	140953351	140953351	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:140953351A>T	uc011mwp.1	+	2	218	c.218A>T	c.(217-219)CAG>CTG	p.Q73L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	73										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCAGATCAGCGAATGGAT	0.502000												
GPR50	9248	broad.mit.edu	37	X	150349823	150349823	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:150349823C>A	uc010ntg.1	+	2	1903	c.1768C>A	c.(1768-1770)CCT>ACT	p.P590T		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	590	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCCTGACCCTACTGTAGT	0.532000												
GABRA3	2556	broad.mit.edu	37	X	151358276	151358276	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:151358276C>A	uc010ntk.1	-	9	1309	c.1069G>T	c.(1069-1071)GCC>TCC	p.A357S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	357	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGACAGTGGCAAATTCAATC	0.473000												
MAGEA6	4105	broad.mit.edu	37	X	151869654	151869654	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:151869654A>T	uc004ffq.1	+	3	538	c.344A>T	c.(343-345)AAG>ATG	p.K115M	MAGEA6_uc004ffr.1_Missense_Mutation_p.K115M|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	115	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTGGCCAAGTTGGTTCAT	0.532000												
F8	2157	broad.mit.edu	37	X	154225313	154225313	+	Missense_Mutation	SNP	T	T	G	rs137852384		TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chrX:154225313T>G	uc004fmt.2	-	3	494	c.323A>C	c.(322-324)AAG>ACG	p.K108T	F8_uc011mzx.1_Missense_Mutation_p.K73T	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	108	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCCATGTTCTTAAGTGTAAT	0.453000												
TTN	7273	broad.mit.edu	37	2	179486701	179486702	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:179486701_179486702delTT	uc010zfg.1	-	193	37467_37468	c.37243_37244delAA	c.(37243-37245)AAGfs	p.K12415fs	TTN_uc010zfh.1_Frame_Shift_Del_p.K6110fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K6043fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K5918fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13342							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTTGCCCTTTTTAATTTCA	0.347												
PARD3B	117583	broad.mit.edu	37	2	206165334	206165335	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr2:206165333_206165334C>CGA	uc002var.2	+	16	2472_2473	c.2265_2266C>CGA	c.(2263-2268)gccgagfs	p.A755fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.A693fs|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	755					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGTGGCCGAGGTCAGGAA	0.515												
UGT2B28	54490	broad.mit.edu	37	4	70146542	70146543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr4:70146541_70146542A>AG	uc003hej.3	+	0	325_326	c.323_324A>AG	c.(322-324)tatfs	p.Y108fs	UGT2B28_uc010ihr.3_Frame_Shift_Ins_p.Y108fs	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	108					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L107_Y108>FH(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTGGTTATATTTTTCACAAG	0.292												
FILIP1	27145	broad.mit.edu	37	6	76022220	76022222	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:76022219_76022221CGAA>C	uc010kbe.3	-	5	3866_3868	c.3336_3338TTCG>G	c.(3334-3339)cttcgc>ctGc	p.R1113del	FILIP1_uc003phy.1_In_Frame_Del_p.R1110del|FILIP1_uc003phz.3_In_Frame_Del_p.R1011del|FILIP1_uc003pia.3_In_Frame_Del_p.R1110del|FILIP1_uc003pib.1_In_Frame_Del_p.R862del	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1110										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGAGAGCGAAGGACAGTGC	0.552												
TRMT11	60487	broad.mit.edu	37	6	126329563	126329563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr6:126329562_126329562AT>A	uc003qam.3	+	7	825	c.704_704AT>A	c.(703-705)catfs	p.H235fs	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Frame_Shift_Del_p.H235fs	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	235					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GCATGTGCTCATTTTGGTGCA	0.413												
NEK8	284086	broad.mit.edu	37	17	27068496	27068497	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8690-01A-11D-2394-08	TCGA-BR-8690-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	edc8839f-fa6b-41e0-ad49-f688073730bd	3e7926eb-67ff-43c6-a3be-7a3cc78d03c2	g.chr17:27068495_27068496C>CG	uc002hcp.3	+	13	1956_1957	c.1956_1957C>CG	c.(1954-1959)gccggafs	p.A652fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	652						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ATGAGGATGCCGGACTCCCTCG	0.579												
