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
ZBTB17	7709	broad.mit.edu	37	1	16269638	16269638	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:16269638G>A	uc001axl.3	-	13	1988	c.1749C>T	c.(1747-1749)ATC>ATT	p.I583I	ZBTB17_uc010obq.1_Silent_p.I500I|ZBTB17_uc010obr.1_Silent_p.I583I|ZBTB17_uc010obs.1_Silent_p.I507I	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	583					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGGGCGGATGTTGTCGT	0.592000												
EPHA8	2046	broad.mit.edu	37	1	22903373	22903373	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:22903373G>C	uc001bfx.1	+	3	948	c.823G>C	c.(823-825)GCC>CCC	p.A275P	EPHA8_uc001bfw.2_Missense_Mutation_p.A275P	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	275	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCCTGTGTGGGTGAGCGCGC	0.682000												
MACF1	23499	broad.mit.edu	37	1	39753193	39753193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:39753193C>T	uc010ois.1	+	16	1964	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	MACF1_uc001cda.1_Nonsense_Mutation_p.R495*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	587					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCAATCTCCGATTTGTGTA	0.468000												
MACF1	23499	broad.mit.edu	37	1	39788669	39788669	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:39788669G>C	uc010ois.1	+	34	4445	c.4240G>C	c.(4240-4242)GAG>CAG	p.E1414Q	MACF1_uc001cda.1_Missense_Mutation_p.E1322Q|MACF1_uc001cdc.1_Missense_Mutation_p.E501Q|MACF1_uc009vvq.1_Missense_Mutation_p.E471Q|MACF1_uc001cdb.1_Missense_Mutation_p.E501Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1414	Poly-Glu.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGTCTGGAGGAGGAGGA	0.388000												
PPT1	5538	broad.mit.edu	37	1	40558102	40558102	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:40558102A>G	uc001cfb.2	-	2	434	c.202T>C	c.(202-204)TTA>CTA	p.L68L	PPT1_uc010ojf.1_Silent_p.L18L|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	68					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAAAGATAAGACGTAAATT	0.408000												
SLFNL1	200172	broad.mit.edu	37	1	41485930	41485930	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:41485930T>G	uc001cgm.1	-	2	623	c.403A>C	c.(403-405)AGT>CGT	p.S135R	SLFNL1_uc009vwf.1_Missense_Mutation_p.S135R|SLFNL1_uc001cgn.1_Missense_Mutation_p.S135R|SLFNL1_uc009vwg.1_Missense_Mutation_p.S135R	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	135							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGGGCCTCACTCAATAGCAGG	0.632000												
USP24	23358	broad.mit.edu	37	1	55566627	55566627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:55566627G>A	uc001cyg.3	-	41	4676	c.4676C>T	c.(4675-4677)TCA>TTA	p.S1559L		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1719					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATCATCCACTGAAAGTAATGA	0.378000												
USP24	23358	broad.mit.edu	37	1	55599811	55599812	+	Silent	DNP	GA	GA	AT			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:55599811_55599812GA>AT	uc001cyg.3	-	27	2832_2833	c.2832_2833TC>AT	c.(2830-2835)CTTCTG>CTATTG	p.944_945LL>LL		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1104_1105					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E944G(1)		ovary(6)|kidney(6)|breast(1)	13						ATCAAGAGCAGAAGCTTCCGTA	0.342000												
SORT1	6272	broad.mit.edu	37	1	109883434	109883434	+	Silent	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:109883434T>C	uc001dxm.1	-	10	1225	c.1176A>G	c.(1174-1176)CGA>CGG	p.R392R	SORT1_uc010ovi.1_Silent_p.R255R	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	392	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTAGAGATGTCGGTCCAAAG	0.493000												
PDE4DIP	9659	broad.mit.edu	37	1	144855852	144855852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:144855852C>T	uc001elw.3	-	41	6992	c.6701G>A	c.(6700-6702)CGG>CAG	p.R2234Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R2128Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.R1241Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2234					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTGCTGCTCCGAAGCTCATG	0.577000			T	PDGFRB	MPD							
SPRR1B	6699	broad.mit.edu	37	1	153004879	153004879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:153004879C>T	uc001fba.2	+	2	122	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	SPRR1B_uc009wnx.1_RNA	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	20	2.|2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCAGCAGCAGGTGAAACA	0.582000												
SPTA1	6708	broad.mit.edu	37	1	158596641	158596641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:158596641C>A	uc001fst.1	-	41	6020	c.5821G>T	c.(5821-5823)GAG>TAG	p.E1941*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1941	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATCCAAGCCTCTACCACATCA	0.453000												
STX6	10228	broad.mit.edu	37	1	180959171	180959171	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:180959171C>T	uc010pnq.1	-	5	675	c.438G>A	c.(436-438)GAG>GAA	p.E146E	STX6_uc001goo.2_Silent_p.E146E|STX6_uc010pnr.1_Silent_p.E45E	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	146	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CTCTCTGGAGCTCTCGGTCCA	0.552000												
KDM5B	10765	broad.mit.edu	37	1	202733219	202733219	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:202733219G>C	uc001gyf.2	-	6	882	c.766C>G	c.(766-768)CTG>GTG	p.L256V	KDM5B_uc009xag.2_Missense_Mutation_p.L292V|KDM5B_uc001gyg.1_Missense_Mutation_p.L98V	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	256					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						CGACGTCTCAGATTATGAGTT	0.303000												
USH2A	7399	broad.mit.edu	37	1	215799151	215799151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:215799151C>T	uc001hku.1	-	72	15968	c.15581G>A	c.(15580-15582)CGC>CAC	p.R5194H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5194	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGTGGTGCGTTCCTTAGT	0.468000										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	215821986	215821986	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:215821986C>T	uc001hku.1	-	66	14853	c.14466G>A	c.(14464-14466)CTG>CTA	p.L4822L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4822	Fibronectin type-III 33.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGGGTTCTCAGTTCAGCTG	0.577000										HNSCC(13;0.011)		
OR2AK2	391191	broad.mit.edu	37	1	248129528	248129528	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr1:248129528C>G	uc010pzd.1	+	1	895	c.895C>G	c.(895-897)CTA>GTA	p.L299V	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	299	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTCACACCTCTACTGAACCC	0.468000												
SEPHS1	22929	broad.mit.edu	37	10	13361306	13361306	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:13361306C>G	uc001imk.2	-	9	1374	c.1015G>C	c.(1015-1017)GAG>CAG	p.E339Q	SEPHS1_uc001imh.2_Missense_Mutation_p.E263Q|SEPHS1_uc010qbs.1_Missense_Mutation_p.E291Q|SEPHS1_uc001imi.2_Missense_Mutation_p.E337Q|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Missense_Mutation_p.E272Q	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	339					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						GACTTTATCTCTGCACAGAAC	0.483000												
DNMBP	23268	broad.mit.edu	37	10	101657908	101657908	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:101657908T>A	uc001kqj.2	-	9	2947	c.2855A>T	c.(2854-2856)AAT>ATT	p.N952I	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.N240I|DNMBP_uc001kqh.2_Missense_Mutation_p.N584I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	952	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGGACTGCATTGGTTAAAGG	0.443000												
NFKB2	4791	broad.mit.edu	37	10	104157099	104157099	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:104157099A>G	uc001kvb.2	+	7	701	c.436A>G	c.(436-438)ATG>GTG	p.M146V	NFKB2_uc001kva.2_Missense_Mutation_p.M146V|NFKB2_uc010qqk.1_Missense_Mutation_p.M146V|NFKB2_uc001kvd.2_Missense_Mutation_p.M146V|NFKB2_uc009xxc.2_Missense_Mutation_p.M146V	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	146	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TAAGAAGAACATGATGGGGAC	0.542000			T	IGH@	B-NHL							
AFAP1L2	84632	broad.mit.edu	37	10	116064682	116064682	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr10:116064682C>T	uc001lbn.2	-	11	1381	c.1080G>A	c.(1078-1080)CTG>CTA	p.L360L	AFAP1L2_uc001lbo.2_Silent_p.L360L|AFAP1L2_uc010qse.1_Silent_p.L413L|AFAP1L2_uc001lbp.2_Silent_p.L388L|AFAP1L2_uc001lbr.1_Silent_p.L360L|AFAP1L2_uc010qsd.1_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	360	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCAGCACGTTCAGGTAACCTG	0.632000												
LRP4	4038	broad.mit.edu	37	11	46886049	46886049	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:46886049G>A	uc001ndn.3	-	36	5339	c.5193C>T	c.(5191-5193)CTC>CTT	p.L1731L	uc001ndl.2_Intron|LRP4_uc001ndm.3_5'Flank	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1731	Helical; (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAATACTGAGGAGTCCACCAA	0.498000												
KBTBD4	55709	broad.mit.edu	37	11	47594886	47594886	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:47594886C>A	uc001nfx.2	-	4	1324	c.1153G>T	c.(1153-1155)GGG>TGG	p.G385W	PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.G410W|KBTBD4_uc001nfz.2_Missense_Mutation_p.G401W|KBTBD4_uc001nfy.2_Missense_Mutation_p.G385W	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	385	Kelch 4.									ovary(1)|central_nervous_system(1)	2						TTCTCCTCCCCCCCTAGTAAG	0.522000												
VWCE	220001	broad.mit.edu	37	11	61058812	61058812	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:61058812G>A	uc001nra.2	-	3	498	c.219C>T	c.(217-219)TTC>TTT	p.F73F	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1.					extracellular region	calcium ion binding			ovary(1)	1						TCCCACAGCCGAAGGAGCAGA	0.642000												
DPP3	10072	broad.mit.edu	37	11	66249784	66249784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:66249784C>T	uc001oig.1	+	2	175	c.113C>T	c.(112-114)TCC>TTC	p.S38F	DPP3_uc001oif.1_Missense_Mutation_p.S38F|DPP3_uc010rpe.1_Missense_Mutation_p.S57F	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	38					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TACCACCTGTCCCGTGCCGCC	0.647000												
FAT3	120114	broad.mit.edu	37	11	92539570	92539570	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:92539570A>G	uc001pdj.3	+	11	9153	c.9136A>G	c.(9136-9138)AAA>GAA	p.K3046E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3046	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCATCAAATAAAATCATCCT	0.363000										TCGA Ovarian(4;0.039)		
ANKRD49	54851	broad.mit.edu	37	11	94231264	94231264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:94231264G>A	uc001pew.2	+	3	425	c.286G>A	c.(286-288)GAA>AAA	p.E96K	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	96	ANK 1.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTCCTTTCTGAAAAGGCCAC	0.413000												
MMP27	64066	broad.mit.edu	37	11	102573751	102573751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:102573751G>A	uc001phd.1	-	3	463	c.440C>T	c.(439-441)ACC>ATC	p.T147I		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	147					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGAAATCTTGGTGAATTTTAG	0.413000												
OR8B4	283162	broad.mit.edu	37	11	124294641	124294641	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:124294641A>C	uc010sak.1	-	1	127	c.127T>G	c.(127-129)TTG>GTG	p.L43V		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATCAAGCCCAAGTTGCCCACC	0.438000												
ARHGAP32	9743	broad.mit.edu	37	11	128839750	128839750	+	Silent	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:128839750T>C	uc009zcp.2	-	22	5316	c.5316A>G	c.(5314-5316)CAA>CAG	p.Q1772Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.Q731Q|ARHGAP32_uc001qez.2_Silent_p.Q1423Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1772	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTTATCATATTGGGACATGA	0.522000												
OPCML	4978	broad.mit.edu	37	11	132307151	132307151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr11:132307151G>A	uc001qgs.2	-	4	679	c.629C>T	c.(628-630)GCG>GTG	p.A210V	OPCML_uc001qgu.2_Missense_Mutation_p.A203V|OPCML_uc010sck.1_Missense_Mutation_p.A210V|OPCML_uc001qgt.2_Missense_Mutation_p.A209V|OPCML_uc010scl.1_Missense_Mutation_p.A169V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	210	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACATCGGGCGCAGCGACATC	0.552000												
VWF	7450	broad.mit.edu	37	12	6120874	6120874	+	Silent	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:6120874G>T	uc001qnn.1	-	34	6001	c.5751C>A	c.(5749-5751)GTC>GTA	p.V1917V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1917					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGTCACAGTTGACCCGATGAC	0.612000												
CHD4	1108	broad.mit.edu	37	12	6690489	6690489	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:6690489C>A	uc001qpo.2	-	32	4911	c.4747G>T	c.(4747-4749)GTT>TTT	p.V1583F	CHD4_uc001qpn.2_Missense_Mutation_p.V1576F|CHD4_uc001qpp.2_Missense_Mutation_p.V1608F|uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1583	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAGATTTAACCTCCTTTTCT	0.393000												
CD163L1	283316	broad.mit.edu	37	12	7531888	7531888	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:7531888G>A	uc001qsy.2	-	9	2083	c.2057C>T	c.(2056-2058)TCG>TTG	p.S686L	CD163L1_uc010sge.1_Missense_Mutation_p.S696L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	686	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CTCCATATCCGATGCATCTGA	0.463000												
CD163	9332	broad.mit.edu	37	12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:7647956G>A	uc001qsz.3	-	6	1269	c.1141C>T	c.(1141-1143)CGC>TGC	p.R381C	CD163_uc001qta.3_Missense_Mutation_p.R381C|CD163_uc009zfw.2_Missense_Mutation_p.R381C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	381	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CCAGCACAGCGGCTGCCTCCA	0.488000												
SLCO1B3	28234	broad.mit.edu	37	12	21011427	21011427	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:21011427C>A	uc001rek.2	+	4	407	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	SLCO1B3_uc001rel.2_Missense_Mutation_p.P94Q|SLCO1B3_uc010sil.1_Missense_Mutation_p.P94Q|LST-3TM12_uc010sim.1_Missense_Mutation_p.P94Q	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	94	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CTACACAGACCGAAGTTAATT	0.323000												
KRT73	319101	broad.mit.edu	37	12	53002163	53002163	+	Silent	SNP	G	G	A	rs114995859	by1000genomes	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:53002163G>A	uc001sas.2	-	9	1475	c.1440C>T	c.(1438-1440)TAC>TAT	p.Y480Y		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	480	Tail.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCAGTAGCCGTAGGTGCCAG	0.642000												
SRGAP1	57522	broad.mit.edu	37	12	64458981	64458981	+	Silent	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:64458981C>G	uc010ssp.1	+	8	1163	c.1107C>G	c.(1105-1107)CTC>CTG	p.L369L	SRGAP1_uc001srt.2_Silent_p.L369L|SRGAP1_uc001srv.2_Silent_p.L329L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	369	Potential.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTGCCACGCTCAAAATCGAGA	0.502000												
PPFIA2	8499	broad.mit.edu	37	12	81762526	81762526	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:81762526C>G	uc001szo.1	-	13	1621	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	413										ovary(3)|lung(2)|pancreas(1)	6						AGCAGCCATTCTTTCCTTTAA	0.358000												
PPFIA2	8499	broad.mit.edu	37	12	81762535	81762535	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:81762535A>G	uc001szo.1	-	13	1612	c.1451T>C	c.(1450-1452)TTA>TCA	p.L484S	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	410										ovary(3)|lung(2)|pancreas(1)	6						TCTTTCCTTTAAGTGTAGTTG	0.373000												
NAA25	80018	broad.mit.edu	37	12	112478294	112478294	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:112478294G>T	uc001ttm.2	-	21	2549	c.2529C>A	c.(2527-2529)TTC>TTA	p.F843L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.F815L|NAA25_uc009zwa.1_Missense_Mutation_p.F821L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	843						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CCTCAACAAAGAAAACTAGAT	0.323000												
NAA25	80018	broad.mit.edu	37	12	112481431	112481431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:112481431G>A	uc001ttm.2	-	18	2268	c.2248C>T	c.(2248-2250)CAG>TAG	p.Q750*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Q722*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Q750*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	750						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATGGTACCTGAATATCCTTC	0.398000												
ZCCHC8	55596	broad.mit.edu	37	12	122958310	122958310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr12:122958310C>T	uc001ucn.2	-	14	1989	c.1858G>A	c.(1858-1860)GAA>AAA	p.E620K	ZCCHC8_uc001ucl.2_Missense_Mutation_p.E231K|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E382K|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E382K|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E382K	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	620						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGGGCACCTTCAGTGTTTACC	0.493000												
ENOX1	55068	broad.mit.edu	37	13	43987028	43987028	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:43987028T>C	uc001uza.3	-	4	323	c.23A>G	c.(22-24)GAG>GGG	p.E8G	ENOX1_uc001uzb.3_Missense_Mutation_p.E8G|ENOX1_uc001uzc.3_Missense_Mutation_p.E8G	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	8					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGTGATGTTCTCAACTCCACC	0.512000												
MYCBP2	23077	broad.mit.edu	37	13	77725076	77725076	+	Silent	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:77725076C>A	uc001vkf.2	-	48	6901	c.6810G>T	c.(6808-6810)GTG>GTT	p.V2270V	MYCBP2_uc010aev.2_Silent_p.V1674V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGACAGCTTTCACTTCCACCT	0.333000												
GPC5	2262	broad.mit.edu	37	13	92560227	92560227	+	Silent	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr13:92560227C>A	uc010tif.1	+	6	1683	c.1317C>A	c.(1315-1317)GCC>GCA	p.A439A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	439						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAATCAAAGCCCAGTCTGGAA	0.388000												
VTI1B	10490	broad.mit.edu	37	14	68118125	68118125	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:68118125A>G	uc001xjt.2	-	6	1072	c.676T>C	c.(676-678)TAC>CAC	p.Y226H	ARG2_uc001xjs.2_3'UTR|VTI1B_uc010aqp.2_Missense_Mutation_p.Y165H|VTI1B_uc001xju.2_Missense_Mutation_p.Y185H	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	226	Helical; Anchor for type IV membrane protein; (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		AAGAATTTGTAGTAAACCAGG	0.448000												
ADAM20	8748	broad.mit.edu	37	14	70990515	70990515	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:70990515A>G	uc001xme.2	-	2	1355	c.1110T>C	c.(1108-1110)CCT>CCC	p.P370P		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	320	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CAGTATTAAAAGGATTCTGGC	0.378000												
SPTLC2	9517	broad.mit.edu	37	14	78043230	78043230	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:78043230T>C	uc001xub.2	-	4	699	c.511A>G	c.(511-513)ATA>GTA	p.I171V		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	171						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCCATGTTTATAACACCCTTT	0.368000												
PSMC1	5700	broad.mit.edu	37	14	90736591	90736591	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:90736591G>C	uc001xyf.2	+	10	1131	c.1083G>C	c.(1081-1083)AAG>AAC	p.K361N	PSMC1_uc001xyg.2_Missense_Mutation_p.K288N|PSMC1_uc001xyh.2_Missense_Mutation_p.K288N	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	361					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AAAAGACGAAGAAGCGCATCT	0.502000												
HSP90AA1	3320	broad.mit.edu	37	14	102552368	102552368	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:102552368C>A	uc001yku.3	-	3	446	c.256G>T	c.(256-258)GAT>TAT	p.D86Y	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D208Y|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D75Y	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	86				D -> G (in Ref. 4; CAI64495 and 6; BAG51711).	axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	AGAGTTCGATCTTGTTTGTTC	0.418000												
AHNAK2	113146	broad.mit.edu	37	14	105411904	105411904	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:105411904G>C	uc010axc.1	-	7	10004	c.9884C>G	c.(9883-9885)TCC>TGC	p.S3295C	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3195C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3295						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCCCC	0.617000												
AHNAK2	113146	broad.mit.edu	37	14	105412399	105412399	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:105412399G>C	uc010axc.1	-	7	9509	c.9389C>G	c.(9388-9390)TCC>TGC	p.S3130C	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3030C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3130						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCCCC	0.617000												
SNAP23	8773	broad.mit.edu	37	15	42823658	42823658	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:42823658G>A	uc001zpz.1	+	8	709	c.618G>A	c.(616-618)AAG>AAA	p.K206K	SNAP23_uc001zqa.1_Silent_p.K153K	NM_003825	NP_003816	O00161	SNP23_HUMAN	synaptosomal-associated protein 23 isoform	206	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding				0		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CCAGAGCAAAGAAACTCATTG	0.348000												
TLN2	83660	broad.mit.edu	37	15	62939637	62939637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:62939637C>T	uc002alb.3	+	1	128	c.128C>T	c.(127-129)ACT>ATT	p.T43I	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	43					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GAGGCACAAACTGGGCAAGGT	0.483000												
AKAP13	11214	broad.mit.edu	37	15	86287028	86287028	+	Missense_Mutation	SNP	G	G	C	rs35204082	byFrequency	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr15:86287028G>C	uc002blv.1	+	36	8534	c.8364G>C	c.(8362-8364)AAG>AAC	p.K2788N	AKAP13_uc002blu.1_Missense_Mutation_p.K2792N|AKAP13_uc002blw.1_Missense_Mutation_p.K1253N|AKAP13_uc002blx.1_Missense_Mutation_p.K1033N	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2788	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAAAAAGAAGAACAAAACCA	0.537000												
MEFV	4210	broad.mit.edu	37	16	3293246	3293246	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:3293246A>G	uc002cun.1	-	10	2281	c.2241T>C	c.(2239-2241)TCT>TCC	p.S747S		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	747	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GCCCAGAGAAAGAGCAGCTGG	0.542000												
ZNF75A	7627	broad.mit.edu	37	16	3367641	3367641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:3367641G>A	uc002cut.3	+	6	1189	c.663G>A	c.(661-663)TGG>TGA	p.W221*	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	221	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						AATGTTCATGGTGTGGGAAAA	0.343000												
PMM2	5373	broad.mit.edu	37	16	8941596	8941596	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:8941596G>C	uc002czf.3	+	8	725	c.655G>C	c.(655-657)GAG>CAG	p.E219Q	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Missense_Mutation_p.E136Q|PMM2_uc010uyh.1_Missense_Mutation_p.E94Q|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Missense_Mutation_p.E72Q|PMM2_uc002czg.1_5'Flank	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	219					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						CAATGACCATGAGATCTTCAC	0.577000												
USP7	7874	broad.mit.edu	37	16	8987952	8987952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:8987952G>A	uc002czl.2	-	31	3411	c.3212C>T	c.(3211-3213)TCT>TTT	p.S1071F	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.S972F|USP7_uc002czk.2_Missense_Mutation_p.S1055F	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1071					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CCGAGGATGAGACATATTACC	0.532000												
USP7	7874	broad.mit.edu	37	16	9009127	9009127	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:9009127G>C	uc002czl.2	-	10	1261	c.1062C>G	c.(1060-1062)ATC>ATG	p.I354M	USP7_uc010uyk.1_Missense_Mutation_p.I255M|USP7_uc010uyj.1_Missense_Mutation_p.I255M|USP7_uc002czk.2_Missense_Mutation_p.I338M|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	354					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TCTTTCCTTTGATACTTAGCT	0.313000												
USP7	7874	broad.mit.edu	37	16	9017104	9017104	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:9017104G>T	uc002czl.2	-	3	550	c.351C>A	c.(349-351)TTC>TTA	p.F117L	USP7_uc010uyk.1_Missense_Mutation_p.F18L|USP7_uc010uyj.1_Missense_Mutation_p.F18L|USP7_uc002czk.2_Missense_Mutation_p.F101L|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	117	Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						ACTGGAGAAAGAATCCTACGC	0.418000												
CDIPT	10423	broad.mit.edu	37	16	29871964	29871964	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:29871964C>G	uc002dum.2	-	4	752	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Missense_Mutation_p.E142Q|CDIPT_uc002dul.2_Missense_Mutation_p.E90Q|CDIPT_uc002dun.2_Missense_Mutation_p.E73Q	NM_006319	NP_006310	O14735	CDIPT_HUMAN	CDP-diacylglycerol-inositol	118						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity				0						TTGTGACTCTCACTGCCTCGG	0.488000												
SF3B3	23450	broad.mit.edu	37	16	70578362	70578362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:70578362G>A	uc002ezf.2	+	10	1466	c.1255G>A	c.(1255-1257)GAT>AAT	p.D419N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	419					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGCCAATGAAGATACTCCACA	0.433000												
PMFBP1	83449	broad.mit.edu	37	16	72158686	72158686	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:72158686G>T	uc002fcc.3	-	17	2756	c.2584C>A	c.(2584-2586)CTC>ATC	p.L862I	PMFBP1_uc002fcd.2_Missense_Mutation_p.L857I|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.L712I|PMFBP1_uc010cgo.1_Missense_Mutation_p.L153I	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	862	Potential.									ovary(2)	2		Ovarian(137;0.179)				TCCTCAAGGAGGTTCTCTTTT	0.572000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C16orf7	9605	broad.mit.edu	37	16	89779059	89779059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr16:89779059C>T	uc002fom.1	-	5	622	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	C16orf7_uc002fol.1_Missense_Mutation_p.R96Q|uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	166					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCGCGCCATTCGGGCCTCATA	0.652000												
CYB5D2	124936	broad.mit.edu	37	17	4058071	4058071	+	Silent	SNP	G	G	A	rs139874723		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:4058071G>A	uc002fxm.3	+	3	1083	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q	CYB5D2_uc010cko.2_Silent_p.Q53Q|CYB5D2_uc002fxl.3_Silent_p.Q53Q	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	165					nervous system development	extracellular region	heme binding			large_intestine(2)|ovary(1)	3						ACAAACTACAGCTGCAAGAGA	0.627000												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)		
RAI1	10743	broad.mit.edu	37	17	17696366	17696366	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:17696366A>T	uc002grm.2	+	3	573	c.104A>T	c.(103-105)CAG>CTG	p.Q35L	RAI1_uc002grn.1_Missense_Mutation_p.Q35L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	35						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCGAGTCAGGCCGGGCTA	0.582000												
CACNA1G	8913	broad.mit.edu	37	17	48676957	48676957	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:48676957G>A	uc002irk.1	+	17	3799	c.3427G>A	c.(3427-3429)GAG>AAG	p.E1143K	CACNA1G_uc002iri.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irj.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irl.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irm.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irn.1_Missense_Mutation_p.E1120K|CACNA1G_uc002iro.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irp.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irq.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irr.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irs.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irt.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irv.1_Missense_Mutation_p.E1143K|CACNA1G_uc002irw.1_Missense_Mutation_p.E1120K|CACNA1G_uc002iru.1_Missense_Mutation_p.E1120K|CACNA1G_uc002irx.1_Missense_Mutation_p.E1056K|CACNA1G_uc002iry.1_Missense_Mutation_p.E1056K|CACNA1G_uc002irz.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isa.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isb.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isc.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isd.1_Missense_Mutation_p.E1056K|CACNA1G_uc002ise.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isf.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isg.1_Missense_Mutation_p.E1056K|CACNA1G_uc002ish.1_Missense_Mutation_p.E1056K|CACNA1G_uc002isi.1_Missense_Mutation_p.E1033K|CACNA1G_uc002isj.2_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1143	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGGATGAAGAGGAGAGCTC	0.662000												
HELZ	9931	broad.mit.edu	37	17	65147323	65147323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr17:65147323C>T	uc010wqk.1	-	18	2385	c.2198G>A	c.(2197-2199)CGC>CAC	p.R733H	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R732H	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTTTACCCAGCGATTTCTGAA	0.343000												
CETN1	1068	broad.mit.edu	37	18	580813	580813	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:580813G>A	uc002kko.1	+	1	447	c.405G>A	c.(403-405)GAG>GAA	p.E135E		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	135	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCTGGGGGAGAACCTCACGG	0.537000												
PTPRM	5797	broad.mit.edu	37	18	8394510	8394510	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:8394510C>T	uc002knn.3	+	30	4709	c.4206C>T	c.(4204-4206)ATC>ATT	p.I1402I	PTPRM_uc010dkv.2_Silent_p.I1415I|PTPRM_uc010wzl.1_Silent_p.I1189I	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1402	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TCTGCGCCATCAGCATCGTAT	0.542000												
ZNF521	25925	broad.mit.edu	37	18	22806993	22806993	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:22806993T>A	uc002kvk.2	-	4	1136	c.889A>T	c.(889-891)ATG>TTG	p.M297L	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M297L|ZNF521_uc002kvl.2_Missense_Mutation_p.M77L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	297	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTGGTTCATGAGGGAGGTC	0.542000			T	PAX5	ALL							
NOL4	8715	broad.mit.edu	37	18	31537439	31537439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr18:31537439C>T	uc010dmi.2	-	8	1508	c.1279G>A	c.(1279-1281)GTC>ATC	p.V427I	NOL4_uc010xbs.1_Missense_Mutation_p.V142I|NOL4_uc002kxr.3_Intron|NOL4_uc010xbt.1_Missense_Mutation_p.V353I|NOL4_uc010dmh.2_Intron|NOL4_uc010xbu.1_Intron|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	427						nucleolus	RNA binding			ovary(3)	3						GAGATTGGGACCATTCGGTCC	0.483000												
MUC16	94025	broad.mit.edu	37	19	9061107	9061107	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:9061107G>T	uc002mkp.2	-	3	26543	c.26339C>A	c.(26338-26340)ACA>AAA	p.T8780K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8782	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTGATCCTGTCGTGGTGAG	0.507000												
DNMT1	1786	broad.mit.edu	37	19	10270586	10270586	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:10270586T>C	uc002mng.2	-	15	1234	c.1054A>G	c.(1054-1056)AAG>GAG	p.K352E	DNMT1_uc010xlc.1_Missense_Mutation_p.K368E|DNMT1_uc002mnh.2_Missense_Mutation_p.K247E|DNMT1_uc010xld.1_Missense_Mutation_p.K352E	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	352	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGAATGCACTTGGGAGGGTGG	0.617000												
ZNF492	57615	broad.mit.edu	37	19	22847879	22847879	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:22847879A>T	uc002nqw.3	+	4	1652	c.1408A>T	c.(1408-1410)ATT>TTT	p.I470F		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	470	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATAAGATGATTCATACTGG	0.373000												
ZNF599	148103	broad.mit.edu	37	19	35251301	35251301	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:35251301C>G	uc010edn.1	-	4	793	c.405G>C	c.(403-405)TTG>TTC	p.L135F	ZNF599_uc010edm.1_Missense_Mutation_p.L98F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCTGGCCTCAAGTTCCCTT	0.448000												
LSR	51599	broad.mit.edu	37	19	35741220	35741220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:35741220C>T	uc002nyl.2	+	2	479	c.256C>T	c.(256-258)CCT>TCT	p.P86S	LSR_uc002nym.2_Missense_Mutation_p.P86S|LSR_uc002nyn.2_Missense_Mutation_p.P86S|LSR_uc002nyo.2_Missense_Mutation_p.P86S|LSR_uc010xsr.1_Missense_Mutation_p.P86S|LSR_uc002nyp.2_Intron	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	86	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCTCAGCTCCTGCCAGGGC	0.597000												
TMEM147	10430	broad.mit.edu	37	19	36037609	36037609	+	Silent	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:36037609G>T	uc002oaj.1	+	4	340	c.243G>T	c.(241-243)CTG>CTT	p.L81L	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.L32L|TMEM147_uc002oak.1_5'UTR	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	81						endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCAGACCTGATAGGTCTAA	0.562000												
ERF	2077	broad.mit.edu	37	19	42753761	42753761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:42753761G>A	uc002ote.3	-	4	661	c.503C>T	c.(502-504)TCT>TTT	p.S168F	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	168	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				GGAAGATGAAGATGAAGAGCA	0.657000												
PLAUR	5329	broad.mit.edu	37	19	44174251	44174251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44174251G>A	uc002oxf.1	-	1	252	c.22C>T	c.(22-24)CCG>TCG	p.P8S	PLAUR_uc002oxd.1_Missense_Mutation_p.P8S|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.P8S	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	8					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	agcagcagcggcagcagcggc	0.562000												
C19orf61	56006	broad.mit.edu	37	19	44242339	44242339	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44242339G>C	uc002oxj.2	-	8	1187	c.844C>G	c.(844-846)CTC>GTC	p.L282V	C19orf61_uc002oxk.2_Missense_Mutation_p.L282V|C19orf61_uc010eiy.1_Missense_Mutation_p.L282V	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	282					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				TTATTGATGAGATGGTCTAGG	0.502000												
ZNF225	7768	broad.mit.edu	37	19	44635941	44635941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44635941C>T	uc002oyj.1	+	5	1417	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	ZNF225_uc010eje.1_Nonsense_Mutation_p.R309*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.R392*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	392	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AAGACATGTGCGAGTCCACAG	0.428000												
ZNF229	7772	broad.mit.edu	37	19	44933034	44933034	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:44933034G>C	uc002oze.1	-	6	2356	c.1922C>G	c.(1921-1923)TCA>TGA	p.S641*	ZNF229_uc010ejk.1_Nonsense_Mutation_p.S295*|ZNF229_uc010ejl.1_Nonsense_Mutation_p.S635*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	641	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				GAGAAGCCCTGAGCTGTAACT	0.498000												
SULT2A1	6822	broad.mit.edu	37	19	48374741	48374741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:48374741G>A	uc002phr.2	-	6	969	c.829C>T	c.(829-831)CTT>TTT	p.L277F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	277					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCTCGAGGAAGATCTGCCATC	0.443000												
PRKCG	5582	broad.mit.edu	37	19	54403920	54403920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:54403920G>A	uc002qcq.1	+	14	1774	c.1492G>A	c.(1492-1494)GAC>AAC	p.D498N	PRKCG_uc010yeg.1_Missense_Mutation_p.D498N|PRKCG_uc010yeh.1_Missense_Mutation_p.D385N	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	498	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGATCACTGACTTTGGCAT	0.572000												
DUXA	503835	broad.mit.edu	37	19	57666681	57666681	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr19:57666681C>T	uc002qoa.1	-	5	543	c.498G>A	c.(496-498)GCG>GCA	p.A166A		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTTCTAAGGACGCCACAGGTT	0.428000												
SLC4A1AP	22950	broad.mit.edu	37	2	27887235	27887235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:27887235G>A	uc002rlk.3	+	1	898	c.616G>A	c.(616-618)GTG>ATG	p.V206M	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	206	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					GCACCCTTCGGTGTCTCGGTA	0.627000												
CLIP4	79745	broad.mit.edu	37	2	29379298	29379298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:29379298C>T	uc002rmv.2	+	10	1483	c.1244C>T	c.(1243-1245)ACA>ATA	p.T415I	CLIP4_uc002rmu.2_Missense_Mutation_p.T415I|CLIP4_uc010ezm.1_Missense_Mutation_p.T415I|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.T397I	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	415										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAAACTGTGACAGAGAAAGAT	0.323000												
EML4	27436	broad.mit.edu	37	2	42528406	42528406	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:42528406C>T	uc002rsi.2	+	14	1777	c.1515C>T	c.(1513-1515)ATC>ATT	p.I505I	EML4_uc010fap.2_Silent_p.I447I|EML4_uc002rsj.2_Silent_p.I194I|EML4_uc010faq.2_5'UTR|EML4_uc010ynv.1_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	505					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						GCAAACAAATCAAAGCTCATG	0.338000			T	ALK	NSCLC							
ASB3	51130	broad.mit.edu	37	2	53992553	53992553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:53992553G>A	uc002rxg.1	-	2	292	c.157C>T	c.(157-159)CAC>TAC	p.H53Y	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.H91Y|ASB3_uc010yoo.1_Missense_Mutation_p.H53Y|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	53	ANK 2.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGAGTTGTGATAAGCTGCT	0.378000												
AFF3	3899	broad.mit.edu	37	2	100360598	100360598	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:100360598G>C	uc002tag.2	-	9	1243	c.1007C>G	c.(1006-1008)TCT>TGT	p.S336C	AFF3_uc002taf.2_Missense_Mutation_p.S361C|AFF3_uc010fiq.1_Missense_Mutation_p.S336C|AFF3_uc010yvr.1_Missense_Mutation_p.S490C|AFF3_uc002tah.1_Missense_Mutation_p.S361C|AFF3_uc010fir.1_Missense_Mutation_p.S413C	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	336					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TACAAGCTGAGAGTCCTGAAA	0.418000												
SLC9A2	6549	broad.mit.edu	37	2	103318933	103318933	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:103318933C>G	uc002tca.2	+	9	1959	c.1817C>G	c.(1816-1818)TCA>TGA	p.S606*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	606	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GAACTCTTATCAAGAAATCTC	0.343000												
TTC21B	79809	broad.mit.edu	37	2	166770142	166770142	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:166770142C>G	uc002udk.2	-	16	2286	c.2153G>C	c.(2152-2154)AGA>ACA	p.R718T		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	718						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GTTAGCCATTCTTTCAGCAAT	0.308000												
XIRP2	129446	broad.mit.edu	37	2	168103881	168103881	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:168103881A>G	uc002udx.2	+	8	5997	c.5979A>G	c.(5977-5979)GGA>GGG	p.G1993G	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G1818G|XIRP2_uc010fpq.2_Silent_p.G1771G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1818					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GGCAAGGGGGAGCAGATACTC	0.453000												
SCRN3	79634	broad.mit.edu	37	2	175269040	175269040	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:175269040A>G	uc002uiq.2	+	5	839	c.751A>G	c.(751-753)AAA>GAA	p.K251E	SCRN3_uc010zen.1_Missense_Mutation_p.K244E|SCRN3_uc010zeo.1_Missense_Mutation_p.K49E	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	251					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAATAAGCACAAAGGTAATTT	0.333000												
TTN	7273	broad.mit.edu	37	2	179647145	179647145	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:179647145C>G	uc010zfg.1	-	20	3398	c.3174G>C	c.(3172-3174)GAG>GAC	p.E1058D	TTN_uc010zfh.1_Missense_Mutation_p.E1012D|TTN_uc010zfi.1_Missense_Mutation_p.E1012D|TTN_uc010zfj.1_Missense_Mutation_p.E1012D|TTN_uc002unb.2_Missense_Mutation_p.E1058D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1058							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)			CATCTCTTGACTCAACAAAGC	0.468000												
NIF3L1	60491	broad.mit.edu	37	2	201768269	201768269	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:201768269C>T	uc002uwm.2	+	7	1093	c.1002C>T	c.(1000-1002)GTC>GTT	p.V334V	NIF3L1_uc002uwl.2_Silent_p.V307V|NIF3L1_uc002uwn.2_Silent_p.V307V|NIF3L1_uc002uwo.2_Silent_p.V334V|NIF3L1_uc002uwp.2_Silent_p.V334V|NIF3L1_uc002uwq.2_3'UTR	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	334					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GAATAAATGTCATCCTCTGTG	0.393000												
NIF3L1	60491	broad.mit.edu	37	2	201768371	201768371	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:201768371G>C	uc002uwm.2	+	7	1195	c.1104G>C	c.(1102-1104)GAG>GAC	p.E368D	NIF3L1_uc002uwl.2_Missense_Mutation_p.E341D|NIF3L1_uc002uwn.2_Missense_Mutation_p.E341D|NIF3L1_uc002uwo.2_Missense_Mutation_p.E368D|NIF3L1_uc002uwp.2_Missense_Mutation_p.E368D|NIF3L1_uc002uwq.2_3'UTR	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	368					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TCCTATCAGAGACTGACAGGG	0.403000												
STRADB	55437	broad.mit.edu	37	2	202340424	202340424	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:202340424G>A	uc002uyd.3	+	7	872	c.507G>A	c.(505-507)GTG>GTA	p.V169V		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	169	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						TTGGAGCCGTGAGAGGGTTGA	0.348000												
AGAP1	116987	broad.mit.edu	37	2	236839529	236839529	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr2:236839529G>C	uc002vvs.2	+	12	2040	c.1445G>C	c.(1444-1446)AGT>ACT	p.S482T	AGAP1_uc002vvt.2_Intron	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	482	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GACCAGTGGAGTGAGGCTACG	0.622000												
SIRPA	140885	broad.mit.edu	37	20	1918035	1918035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:1918035G>A	uc002wfq.2	+	9	1696	c.1336G>A	c.(1336-1338)GAG>AAG	p.E446K	SIRPA_uc010zps.1_Missense_Mutation_p.E426K|SIRPA_uc002wfr.2_Missense_Mutation_p.E446K|SIRPA_uc002wfs.2_Missense_Mutation_p.E446K|SIRPA_uc002wft.2_Missense_Mutation_p.E450K	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	446	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCAGGCTGCGGAGCCCAACAA	0.552000												
TRMT6	51605	broad.mit.edu	37	20	5924624	5924624	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:5924624A>T	uc002wmh.1	-	5	634	c.512T>A	c.(511-513)ATG>AAG	p.M171K	TRMT6_uc010zra.1_Missense_Mutation_p.M1K|TRMT6_uc010gbn.1_Missense_Mutation_p.M1K|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	171					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TGCATAATACATAATTGAAAG	0.313000												
RALGAPA2	57186	broad.mit.edu	37	20	20621418	20621418	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:20621418G>A	uc002wrz.2	-	6	620	c.477C>T	c.(475-477)TTC>TTT	p.F159F	RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	159					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGACTGCTGGGAAACCAGGCA	0.498000												
TPX2	22974	broad.mit.edu	37	20	30363673	30363673	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:30363673G>T	uc002wwp.1	+	8	1310	c.612G>T	c.(610-612)CAG>CAT	p.Q204H	TPX2_uc010gdv.1_Missense_Mutation_p.Q204H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	204					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCTTTAGGCAGAAGTTTCTAA	0.388000												
CHD6	84181	broad.mit.edu	37	20	40122221	40122221	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:40122221T>G	uc002xka.1	-	10	1449	c.1271A>C	c.(1270-1272)AAA>ACA	p.K424T	CHD6_uc002xkd.2_Missense_Mutation_p.K402T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	424	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCAAATTCTTTAACTTTTGC	0.408000												
SLC13A3	64849	broad.mit.edu	37	20	45242254	45242254	+	Silent	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:45242254G>T	uc002xsf.1	-	2	260	c.222C>A	c.(220-222)GGC>GGA	p.G74G	SLC13A3_uc010ghn.1_Silent_p.G43G|SLC13A3_uc010zxw.1_Silent_p.G74G|SLC13A3_uc002xsg.1_Silent_p.G27G|SLC13A3_uc010gho.1_Silent_p.G27G|SLC13A3_uc010zxx.1_Intron|SLC13A3_uc002xsi.3_Silent_p.G27G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	74	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGGCAAGATGCCCATGAAGG	0.602000												
NCOA3	8202	broad.mit.edu	37	20	46265013	46265013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:46265013C>T	uc002xtk.2	+	12	2088	c.1883C>T	c.(1882-1884)TCT>TTT	p.S628F	NCOA3_uc010ght.1_Missense_Mutation_p.S638F|NCOA3_uc002xtl.2_Missense_Mutation_p.S628F|NCOA3_uc002xtm.2_Missense_Mutation_p.S628F|NCOA3_uc002xtn.2_Missense_Mutation_p.S628F|NCOA3_uc010zyc.1_Missense_Mutation_p.S423F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	628	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CTTACCTGTTCTTCTGATGAC	0.468000												
TSHZ2	128553	broad.mit.edu	37	20	51871441	51871441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr20:51871441G>A	uc002xwo.2	+	2	2400	c.1444G>A	c.(1444-1446)GAG>AAG	p.E482K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	482					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CGTGAAAAGCGAGGACTATGA	0.428000												
TMPRSS15	5651	broad.mit.edu	37	21	19642429	19642429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr21:19642429C>A	uc002ykw.2	-	25	2948	c.2917G>T	c.(2917-2919)GGA>TGA	p.G973*		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	973	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						ATTAATGGTCCTCCTGAATCC	0.378000												
NCAM2	4685	broad.mit.edu	37	21	22746243	22746243	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr21:22746243G>C	uc002yld.1	+	9	1354	c.1105G>C	c.(1105-1107)GAT>CAT	p.D369H	NCAM2_uc011acb.1_Missense_Mutation_p.D227H|NCAM2_uc011acc.1_Missense_Mutation_p.D394H	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	369	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCATATTAAAGATGTGAAGTT	0.413000												
GGA1	26088	broad.mit.edu	37	22	38021940	38021940	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:38021940C>G	uc003atc.2	+	11	1442	c.1077C>G	c.(1075-1077)GAC>GAG	p.D359E	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.D359E|GGA1_uc003atf.2_Missense_Mutation_p.D286E	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	359	Autoinhibitory.|Unstructured hinge.			LLDDE->AADAA: Partial loss of clathrin- binding.	intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TGCTTGACGACGAGCTCATGT	0.672000												
FAM83F	113828	broad.mit.edu	37	22	40417545	40417545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:40417545C>T	uc003ayk.1	+	4	1125	c.1031C>T	c.(1030-1032)GCT>GTT	p.A344V		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	344										breast(1)	1						ATGCGCTGGGCTGCCCGGCAA	0.682000												
SBF1	6305	broad.mit.edu	37	22	50886972	50886972	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr22:50886972A>G	uc003blh.2	-	37	5346	c.5151T>C	c.(5149-5151)CGT>CGC	p.R1717R	SBF1_uc003ble.2_Silent_p.R181R|SBF1_uc003blf.2_Silent_p.R193R|SBF1_uc011arx.1_Silent_p.R1355R	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1691					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCACTCACACGGCCGTCTG	0.662000												
HTR1F	3355	broad.mit.edu	37	3	88040875	88040875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:88040875G>T	uc003dqr.2	+	2	1134	c.976G>T	c.(976-978)GAA>TAA	p.E326*		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	326	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TAAAATTTCTGAAGAAATGTC	0.333000												
EPHA6	285220	broad.mit.edu	37	3	96706518	96706518	+	Silent	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:96706518T>A	uc010how.1	+	3	838	c.795T>A	c.(793-795)ACT>ACA	p.T265T	EPHA6_uc003drp.1_Silent_p.T265T	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	170	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AACTCAACACTGAAATTCGTG	0.433000												
EPHA6	285220	broad.mit.edu	37	3	96706657	96706657	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:96706657C>T	uc010how.1	+	3	977	c.934C>T	c.(934-936)CCT>TCT	p.P312S	EPHA6_uc003drp.1_Missense_Mutation_p.P312S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	217	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GGCCATGTTTCCTGATACCAT	0.468000												
OR5K3	403277	broad.mit.edu	37	3	98110025	98110025	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:98110025T>A	uc011bgw.1	+	1	516	c.516T>A	c.(514-516)CAT>CAA	p.H172Q		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTGGGTCTCATCAAATCAATC	0.383000												
POLQ	10721	broad.mit.edu	37	3	121251880	121251880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:121251880G>A	uc003eee.3	-	6	1046	c.917C>T	c.(916-918)TCA>TTA	p.S306L		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	306					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTTCATTGAAGAGTCATA	0.383000								DNA_polymerases_(catalytic_subunits)				
MRPL3	11222	broad.mit.edu	37	3	131220467	131220467	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:131220467T>A	uc003eoh.2	-	2	349	c.185A>T	c.(184-186)AAG>ATG	p.K62M	MRPL3_uc011blo.1_Translation_Start_Site|MRPL3_uc011blp.1_Missense_Mutation_p.K89M	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	62					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						GACCAACTGCTTAATGAATGG	0.403000												
P2RY12	64805	broad.mit.edu	37	3	151056202	151056202	+	Silent	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:151056202G>C	uc003eyw.1	-	2	648	c.432C>G	c.(430-432)CTC>CTG	p.L144L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Silent_p.L144L	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	144	Helical; Name=4; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGACAACAGAGAGAATCTTAG	0.443000												
VEPH1	79674	broad.mit.edu	37	3	157188178	157188178	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:157188178G>C	uc003fbj.1	-	3	596	c.279C>G	c.(277-279)AAC>AAG	p.N93K	VEPH1_uc003fbk.1_Missense_Mutation_p.N93K|VEPH1_uc010hvu.1_Missense_Mutation_p.N93K|VEPH1_uc003fbm.2_Missense_Mutation_p.N93K|VEPH1_uc003fbn.2_Missense_Mutation_p.N93K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	93						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGGTCTCAGGTTATGTTCCA	0.463000												
SLC7A14	57709	broad.mit.edu	37	3	170201172	170201172	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr3:170201172C>A	uc003fgz.2	-	6	1362	c.1046G>T	c.(1045-1047)AGC>ATC	p.S349I	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	349	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCCAGCAAGCTGACTGTCAG	0.527000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EXOC1	55763	broad.mit.edu	37	4	56755095	56755095	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:56755095G>C	uc003hbe.1	+	11	1530	c.1372G>C	c.(1372-1374)GAG>CAG	p.E458Q	EXOC1_uc003hbf.1_Missense_Mutation_p.E458Q|EXOC1_uc003hbg.1_Intron	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	458					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					ACAGGAAACAGAGAGTGAGTA	0.348000												
PDLIM5	10611	broad.mit.edu	37	4	95578606	95578606	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:95578606G>C	uc003hti.2	+	11	1644	c.1493G>C	c.(1492-1494)TGG>TCG	p.W498S	PDLIM5_uc011cdx.1_Missense_Mutation_p.W395S|PDLIM5_uc003hth.2_Missense_Mutation_p.W389S|PDLIM5_uc003htj.2_Missense_Mutation_p.W173S|PDLIM5_uc003htk.2_Missense_Mutation_p.W527S|PDLIM5_uc011cdy.1_Missense_Mutation_p.W376S|PDLIM5_uc003htl.2_Missense_Mutation_p.W173S	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	498	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAAACTTGGCATGTTTCC	0.373000												
PRMT10	90826	broad.mit.edu	37	4	148575442	148575442	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:148575442C>A	uc003ilc.2	-	9	1748	c.1606G>T	c.(1606-1608)GGC>TGC	p.G536C	PRMT10_uc003ilb.2_Missense_Mutation_p.G180C|PRMT10_uc003ild.2_Missense_Mutation_p.G423C	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	536						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						ATTTTAAAGCCTTCATGATAT	0.413000												
PLEKHG4B	153478	broad.mit.edu	37	5	182371	182371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:182371C>T	uc003jak.2	+	18	3799	c.3749C>T	c.(3748-3750)ACG>ATG	p.T1250M		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1250					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAACTAGAGACGGGCACCCAG	0.647000												
CLPTM1L	81037	broad.mit.edu	37	5	1324909	1324909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:1324909G>A	uc003jch.2	-	11	1212	c.1166C>T	c.(1165-1167)TCT>TTT	p.S389F	CLPTM1L_uc003jcg.2_Missense_Mutation_p.S220F	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	389	Cytoplasmic (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TTTCCTCTCAGATTCGCTGTA	0.478000												
PDE8B	8622	broad.mit.edu	37	5	76621533	76621533	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:76621533T>G	uc003kfa.2	+	3	614	c.569T>G	c.(568-570)TTC>TGC	p.F190C	PDE8B_uc003kfb.2_Missense_Mutation_p.F170C|PDE8B_uc003kfc.2_Missense_Mutation_p.F190C|PDE8B_uc003kfd.2_Missense_Mutation_p.F190C|PDE8B_uc003kfe.2_Missense_Mutation_p.F190C	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	190					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACTCAGAACTTCGATGCAGAA	0.333000												
RASGRF2	5924	broad.mit.edu	37	5	80419490	80419490	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:80419490G>A	uc003kha.1	+	16	2500	c.2500G>A	c.(2500-2502)GCA>ACA	p.A834T	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	834					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGCGGACCGAGCAGGAGTGGA	0.522000												
MCC	4163	broad.mit.edu	37	5	112379318	112379318	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:112379318C>G	uc003kqj.3	-	15	2625	c.2095G>C	c.(2095-2097)GAT>CAT	p.D699H	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.D889H	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	699					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GAGGCAGCATCAGCACACTCC	0.597000											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT2	2196	broad.mit.edu	37	5	150905343	150905343	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:150905343G>C	uc003lue.3	-	17	10505	c.10492C>G	c.(10492-10494)CAG>GAG	p.Q3498E	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.Q191E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3498	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTGAAGCTGATACCATTCC	0.567000												
GABRG2	2566	broad.mit.edu	37	5	161569308	161569308	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:161569308C>A	uc003lyz.3	+	7	1266	c.908C>A	c.(907-909)GCC>GAC	p.A303D	GABRG2_uc010jjc.2_Missense_Mutation_p.A343D|GABRG2_uc003lyy.3_Missense_Mutation_p.A303D|GABRG2_uc011dej.1_Missense_Mutation_p.A208D	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	303	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(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCTGTTCCAGCCAGAACATCT	0.398000												
C5orf45	51149	broad.mit.edu	37	5	179264517	179264517	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:179264517C>A	uc003mla.2	-	7	950	c.906G>T	c.(904-906)AAG>AAT	p.K302N	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.K247N|C5orf45_uc003mlb.2_Missense_Mutation_p.K168N	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	302											0						CCCATGAGGTCTTCCCGCAAG	0.622000												
BTNL8	79908	broad.mit.edu	37	5	180377062	180377062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:180377062C>T	uc003mmp.2	+	8	1255	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.H216Y|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.H225Y|BTNL8_uc011dhh.1_Missense_Mutation_p.H157Y	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	341	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGGGAAACATTACTGGGA	0.522000												
GNB2L1	10399	broad.mit.edu	37	5	180664713	180664713	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr5:180664713C>G	uc003mni.1	-	7	890	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	GNB2L1_uc003mnh.1_Missense_Mutation_p.E221Q|GNB2L1_uc003mnk.1_Missense_Mutation_p.E184Q|GNB2L1_uc003mnj.1_Missense_Mutation_p.E216Q|GNB2L1_uc003mnl.1_Missense_Mutation_p.E46Q	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	262					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		ATCTTTCCCTCTAAATCCTGG	0.448000												
TDRD6	221400	broad.mit.edu	37	6	46658843	46658843	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:46658843C>T	uc003oyj.2	+	1	2978	c.2978C>T	c.(2977-2979)ACG>ATG	p.T993M	TDRD6_uc010jze.2_Missense_Mutation_p.T987M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333000												
PKHD1	5314	broad.mit.edu	37	6	51907859	51907859	+	Silent	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:51907859T>A	uc003pah.1	-	27	3171	c.2895A>T	c.(2893-2895)ACA>ACT	p.T965T	PKHD1_uc003pai.2_Silent_p.T965T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	965	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTTGTTCACTGTAACCTGCA	0.393000												
RFX6	222546	broad.mit.edu	37	6	117246699	117246699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:117246699G>A	uc003pxm.2	+	16	1825	c.1762G>A	c.(1762-1764)GCT>ACT	p.A588T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	588					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TTCCAGCGACGCTGTGAAGAA	0.517000												
EYA4	2070	broad.mit.edu	37	6	133833864	133833864	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:133833864T>G	uc003qec.3	+	15	1745	c.1287T>G	c.(1285-1287)TGT>TGG	p.C429W	EYA4_uc011ecq.1_Missense_Mutation_p.C375W|EYA4_uc011ecr.1_Missense_Mutation_p.C381W|EYA4_uc003qed.3_Missense_Mutation_p.C429W|EYA4_uc003qee.3_Missense_Mutation_p.C406W|EYA4_uc011ecs.1_Missense_Mutation_p.C435W|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	429					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAGGAGTGTGATCAAGTTC	0.378000												
C6orf118	168090	broad.mit.edu	37	6	165712986	165712986	+	Silent	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr6:165712986T>C	uc003qum.3	-	4	918	c.882A>G	c.(880-882)GAA>GAG	p.E294E	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	294											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGAGTTCATATTCATCCTGTA	0.463000												
SNX8	29886	broad.mit.edu	37	7	2317745	2317745	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:2317745A>C	uc003slw.2	-	2	333	c.290T>G	c.(289-291)GTT>GGT	p.V97G		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	97	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTGGCTGGAAACCTCATACTC	0.582000												
C7orf26	79034	broad.mit.edu	37	7	6629948	6629948	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:6629948G>A	uc003sqo.1	+	1	34	c.34G>A	c.(34-36)GAT>AAT	p.D12N	uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.D12N|C7orf26_uc003sqq.1_5'UTR	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	12										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGCGCCGCGATGCGCTGAG	0.612000												
AGR2	10551	broad.mit.edu	37	7	16841346	16841346	+	Silent	SNP	G	G	A	rs142975221		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:16841346G>A	uc003str.2	-	2	262	c.75C>T	c.(73-75)GTC>GTT	p.V25V	AGR2_uc011jxy.1_Silent_p.V25V	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	25					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CTCCAGGTTTGACTGTGGTAT	0.512000												
ABCB5	340273	broad.mit.edu	37	7	20793071	20793071	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:20793071A>C	uc003suw.3	+	18	2729	c.2183A>C	c.(2182-2184)AAA>ACA	p.K728T	ABCB5_uc010kuh.2_Missense_Mutation_p.K1173T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	728	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CTTCTCCAAAAACCCAAAATT	0.398000												
SAMD9	54809	broad.mit.edu	37	7	92733964	92733964	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:92733964G>C	uc003umf.2	-	3	1703	c.1447C>G	c.(1447-1449)CTA>GTA	p.L483V	SAMD9_uc003umg.2_Missense_Mutation_p.L483V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	483						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAAAGATTTAGAGTAGAAATC	0.403000												
MLL5	55904	broad.mit.edu	37	7	104742409	104742409	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:104742409C>G	uc003vcm.2	+	17	2498	c.1964C>G	c.(1963-1965)TCT>TGT	p.S655C	MLL5_uc010ljc.2_Missense_Mutation_p.S655C|MLL5_uc010lje.1_RNA	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	655					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AAAAGTTTTTCTCGGAGTAGG	0.413000												
ANKRD7	56311	broad.mit.edu	37	7	117876182	117876182	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:117876182G>T	uc003vji.2	+	4	729	c.556G>T	c.(556-558)GCT>TCT	p.A186S		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	186	ANK 4.				male gonad development						0						TGATGTGAATGCTTCAGATAA	0.259000												
CPA2	1358	broad.mit.edu	37	7	129919480	129919480	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr7:129919480A>C	uc003vpq.2	+	9	984	c.965A>C	c.(964-966)AAG>ACG	p.K322T		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	322					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AAATGTACCAAGTTAGATGAC	0.418000												
BMP1	649	broad.mit.edu	37	8	22051982	22051982	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:22051982A>G	uc003xbg.2	+	11	1566	c.1322A>G	c.(1321-1323)AAG>AGG	p.K441R	BMP1_uc003xba.2_Missense_Mutation_p.K441R|BMP1_uc003xbb.2_Missense_Mutation_p.K441R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.K190R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.K190R|BMP1_uc011kzc.1_Missense_Mutation_p.K190R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	441	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGTGAAAAAGGACTATGGC	0.587000												
SOX17	64321	broad.mit.edu	37	8	55371726	55371726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:55371726C>T	uc003xsb.3	+	2	620	c.416C>T	c.(415-417)CCG>CTG	p.P139L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	139					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)			AAGTACCGGCCGCGGCGGCGC	0.731000												
PREX2	80243	broad.mit.edu	37	8	69012077	69012077	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:69012077A>C	uc003xxv.1	+	23	2741	c.2714A>C	c.(2713-2715)AAG>ACG	p.K905T	PREX2_uc003xxu.1_Missense_Mutation_p.K905T|PREX2_uc011lez.1_Missense_Mutation_p.K840T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	905					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AGTTATAAAAAGGTAAGTGTT	0.274000												
ZFPM2	23414	broad.mit.edu	37	8	106815454	106815454	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:106815454G>A	uc003ymd.2	+	8	3167	c.3144G>A	c.(3142-3144)CTG>CTA	p.L1048L	ZFPM2_uc011lhs.1_Silent_p.L779L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1048					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATGGTGGACTGAAACAAGATG	0.488000												
TRPS1	7227	broad.mit.edu	37	8	116599425	116599425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr8:116599425C>A	uc003ynz.2	-	4	2923	c.2464G>T	c.(2464-2466)GAG>TAG	p.E822*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.E826*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E835*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E822*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	822					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)			TTTGTCTGCTCTTGGGTGCCA	0.587000									Langer-Giedion_syndrome			
KIAA2026	158358	broad.mit.edu	37	9	5922408	5922408	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:5922408T>A	uc003zjq.3	-	8	3804	c.3588A>T	c.(3586-3588)TTA>TTT	p.L1196F	KIAA2026_uc010mht.2_Missense_Mutation_p.L371F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1196										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGGTGTTAATAAGTTACTTA	0.418000												
TRPM6	140803	broad.mit.edu	37	9	77415356	77415356	+	Missense_Mutation	SNP	G	G	C	rs147364287		TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:77415356G>C	uc004ajl.1	-	17	2290	c.2052C>G	c.(2050-2052)TTC>TTG	p.F684L	TRPM6_uc004ajk.1_Missense_Mutation_p.F679L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.F62L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	684	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CATTCTGCTTGAATGCCTTCT	0.512000												
VPS13A	23230	broad.mit.edu	37	9	79933226	79933226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:79933226G>T	uc004akr.2	+	41	5292	c.5032G>T	c.(5032-5034)GAA>TAA	p.E1678*	VPS13A_uc004akp.3_Nonsense_Mutation_p.E1678*|VPS13A_uc004akq.3_Nonsense_Mutation_p.E1678*|VPS13A_uc004aks.2_Nonsense_Mutation_p.E1639*|VPS13A_uc004akt.2_Nonsense_Mutation_p.E18*|VPS13A_uc010mpo.1_Nonsense_Mutation_p.E274*	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1678					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CATCCCAGAAGAAACGGCTTC	0.318000												
KIAA0368	23392	broad.mit.edu	37	9	114135651	114135651	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:114135651C>A	uc004bfe.1	-	41	4747	c.4747G>T	c.(4747-4749)GAT>TAT	p.D1583Y		NM_001080398	NP_001073867			KIAA0368 protein												0						CTGTTCCGATCTGTCAGGCCA	0.383000												
C9orf84	158401	broad.mit.edu	37	9	114464486	114464486	+	Silent	SNP	A	A	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:114464486A>G	uc004bfr.2	-	21	2931	c.2796T>C	c.(2794-2796)TAT>TAC	p.Y932Y	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.Y893Y|C9orf84_uc010mug.2_Silent_p.Y843Y	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	932										ovary(2)	2						ATGCCTTCTCATAATTCAATT	0.259000												
DFNB31	25861	broad.mit.edu	37	9	117266506	117266506	+	Silent	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:117266506G>A	uc004biz.3	-	1	1225	c.576C>T	c.(574-576)AAC>AAT	p.N192N	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.N192N|DFNB31_uc004bjb.2_Silent_p.N192N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	192	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGATTTGTCGTTGACGCGCA	0.478000												
OR1Q1	158131	broad.mit.edu	37	9	125377550	125377550	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr9:125377550C>G	uc011lyy.1	+	1	534	c.534C>G	c.(532-534)TTC>TTG	p.F178L		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCACTTCTTCTGTGACCTCT	0.493000												
NHS	4810	broad.mit.edu	37	X	17750507	17750507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:17750507C>T	uc004cxx.2	+	8	5154	c.4816C>T	c.(4816-4818)CAG>TAG	p.Q1606*	NHS_uc011mix.1_Nonsense_Mutation_p.Q1627*|NHS_uc004cxy.2_Nonsense_Mutation_p.Q1450*|NHS_uc004cxz.2_Nonsense_Mutation_p.Q1429*|NHS_uc004cya.2_Nonsense_Mutation_p.Q1329*	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1606						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					TACGCCCATGCAGGCAATCTC	0.607000												
MAGEE1	57692	broad.mit.edu	37	X	75650042	75650042	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:75650042A>C	uc004ecm.1	+	1	1926	c.1719A>C	c.(1717-1719)GAA>GAC	p.E573D		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	573	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						AAGGGTTAGAAGAGAGCCCAA	0.468000												
P2RY10	27334	broad.mit.edu	37	X	78216055	78216055	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:78216055T>A	uc004ede.2	+	4	407	c.38T>A	c.(37-39)ATG>AAG	p.M13K	P2RY10_uc004edf.2_Missense_Mutation_p.M13K	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	13	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						ACATTCAAGATGGGTAGCAAC	0.348000												
POU3F4	5456	broad.mit.edu	37	X	82764197	82764197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:82764197G>A	uc004eeg.2	+	1	929	c.865G>A	c.(865-867)GTC>ATC	p.V289I		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	289	Homeobox.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGAGGTGAGTGTCAAGGGCGT	0.612000												
PAK3	5063	broad.mit.edu	37	X	110435772	110435772	+	Missense_Mutation	SNP	G	G	C	rs151056810	byFrequency	TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:110435772G>C	uc004epa.2	+	10	990	c.963G>C	c.(961-963)AAG>AAC	p.K321N	PAK3_uc010npt.1_Missense_Mutation_p.K306N|PAK3_uc010npu.1_Missense_Mutation_p.K306N|PAK3_uc004eoy.1_Missense_Mutation_p.K61N|PAK3_uc004eoz.2_Missense_Mutation_p.K306N|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.K342N|PAK3_uc010npw.1_Missense_Mutation_p.K327N	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	321	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						AGCAACCCAAGAAGGAATTAA	0.284000										TSP Lung(19;0.15)		
ARHGAP36	158763	broad.mit.edu	37	X	130218985	130218985	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:130218985T>A	uc004evz.2	+	7	1247	c.902T>A	c.(901-903)ATG>AAG	p.M301K	ARHGAP36_uc004ewa.2_Missense_Mutation_p.M289K|ARHGAP36_uc004ewb.2_Missense_Mutation_p.M270K|ARHGAP36_uc004ewc.2_Missense_Mutation_p.M165K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	301	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TTCCGTGACATGAAGGATTCT	0.458000												
TFDP3	51270	broad.mit.edu	37	X	132351694	132351694	+	Silent	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:132351694C>T	uc004exb.1	-	1	683	c.594G>A	c.(592-594)CAG>CAA	p.Q198Q		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	198	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCCGTAAGTTCTGACAGTTCT	0.428000												
FMR1	2332	broad.mit.edu	37	X	147024689	147024689	+	Silent	SNP	T	T	C			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:147024689T>C	uc010nst.2	+	14	1503	c.1314T>C	c.(1312-1314)GAT>GAC	p.D438D	FMR1_uc004fcj.2_Silent_p.D415D|FMR1_uc004fck.3_Silent_p.D417D|FMR1_uc004fcl.3_Silent_p.D278D|FMR1_uc011mxa.1_Silent_p.D85D	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	438	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAATTGATGAGCAGTTGC	0.358000									Fragile_X_syndrome			
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:149639635A>T	uc004fee.1	+	3	1866	c.1790A>T	c.(1789-1791)CAG>CTG	p.Q597L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q524L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.483000												
PASD1	139135	broad.mit.edu	37	X	150828296	150828296	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:150828296C>T	uc004fev.3	+	10	1161	c.829C>T	c.(829-831)CCT>TCT	p.P277S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383000												
L1CAM	3897	broad.mit.edu	37	X	153137610	153137610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chrX:153137610C>T	uc004fjb.2	-	4	505	c.397G>A	c.(397-399)GAG>AAG	p.E133K	L1CAM_uc004fjc.2_Missense_Mutation_p.E133K|L1CAM_uc010nuo.2_Missense_Mutation_p.E128K|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.E128K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	133	Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGCACCCTCGGCCATGAGC	0.622000												
HNRNPC	3183	broad.mit.edu	37	14	21680084	21680085	+	Splice_Site	DEL	TT	TT	-			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:21680083_21680084CTT>C	uc001vzy.3	-	7	807	c.563_splice	c.e7-1	p.L188_splice	HNRNPC_uc001vzw.3_Splice_Site_p.L175_splice|HNRNPC_uc001wad.3_Splice_Site_p.L108_splice|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Splice_Site_p.L175_splice|HNRNPC_uc001waa.3_Splice_Site_p.L188_splice|HNRNPC_uc010ail.3_Splice_Site_p.L188_splice|HNRNPC_uc010tlq.2_Splice_Site|HNRNPC_uc001wac.3_Intron|HNRNPC_uc010tlr.2_Splice_Site_p.L53_splice|HNRNPC_uc001wae.3_Splice_Site_p.L175_splice	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	188	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TCTCCTTTCACTTTAATATAAA	0.376												
OTUD4	54726	broad.mit.edu	37	4	146071793	146071793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr4:146071793delT	uc003ika.3	-	13	1074	c.936delA	c.(934-936)CTAfs	p.L312fs	OTUD4_uc003ijz.3_Frame_Shift_Del_p.L311fs	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	376							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GTCGAGGAGGTAGTGCTGATG	0.423												
HNRNPC	3183	broad.mit.edu	37	14	21680084	21680085	+	Splice_Site	DEL	TT	TT	-			TCGA-BR-7716-01A-21D-2053-08	TCGA-BR-7716-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27905ee2-3613-4023-b996-6fd0640a9e24	e489d5ac-5dca-4378-8c94-e65dbd5ef207	g.chr14:21680083_21680084CTT>C	uc001vzy.3	-	7	807	c.563_splice	c.e7-1	p.L188_splice	HNRNPC_uc001vzw.3_Splice_Site_p.L175_splice|HNRNPC_uc001wad.3_Splice_Site_p.L108_splice|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Splice_Site_p.L175_splice|HNRNPC_uc001waa.3_Splice_Site_p.L188_splice|HNRNPC_uc010ail.3_Splice_Site_p.L188_splice|HNRNPC_uc010tlq.2_Splice_Site|HNRNPC_uc001wac.3_Intron|HNRNPC_uc010tlr.2_Splice_Site_p.L53_splice|HNRNPC_uc001wae.3_Splice_Site_p.L175_splice	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	188	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TCTCCTTTCACTTTAATATAAA	0.376