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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PANK4	55229	broad.mit.edu	37	1	2452658	2452658	+	Missense_Mutation	SNP	C	C	T	rs140699365	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:2452658C>T	uc001ajm.1	-	3	313	c.304G>A	c.(304-306)GAA>AAA	p.E102K	PANK4_uc010nza.1_Missense_Mutation_p.E102K	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	102					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCAGGCTTCGATGTAGGTA	0.507		NA											39	104					0	0	0	0
NBPF1	55672	broad.mit.edu	37	1	16913608	16913608	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:16913608T>C	uc009vos.1	-	11	1603	c.715A>G	c.(715-717)ACT>GCT	p.T239A	NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	239	NBPF 1.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACCAGAGTTGAGTTGACT	0.448		NA											4	68					0	0	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510922	26510922	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:26510922C>T	uc001bln.3	+	12	1110	c.1052C>T	c.(1051-1053)CCC>CTC	p.P351L	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.P344L|CNKSR1_uc009vsd.2_Missense_Mutation_p.P86L|CNKSR1_uc009vse.2_Missense_Mutation_p.P86L|CNKSR1_uc001blo.2_Missense_Mutation_p.P86L	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	351	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCCTGCCCATCCCCCCG	0.637		NA											6	21					0	0	0	0
TXLNA	200081	broad.mit.edu	37	1	32660790	32660790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:32660790G>T	uc001bui.2	+	11	1700	c.1635G>T	c.(1633-1635)AGG>AGT	p.R545S	TXLNA_uc001buj.2_Missense_Mutation_p.R545S	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	545					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTCCGCCAGGGCCTAGAGAG	0.647		NA											18	28					6.94e-10	1.56e-09	1	0
CSMD2	114784	broad.mit.edu	37	1	34204749	34204749	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:34204749C>T	uc001bxn.1	-	15	2269	c.2240G>A	c.(2239-2241)CGG>CAG	p.R747Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R787Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	747	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTCACACCGCAGCACAGC	0.617		NA											8	16					0	0	0	0
POU3F1	5453	broad.mit.edu	37	1	38511546	38511546	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:38511546C>G	uc001ccp.1	-	1	905	c.870G>C	c.(868-870)CAG>CAC	p.Q290H		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	290	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGATGGTGGTCTGCGAGAACA	0.612		NA											15	67					0	0	0	0
COL9A2	1298	broad.mit.edu	37	1	40767556	40767556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:40767556G>A	uc001cfh.1	-	31	1868	c.1798C>T	c.(1798-1800)CGT>TGT	p.R600C	COL9A2_uc001cfi.1_Missense_Mutation_p.R419C	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	600	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-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;2.08e-17)			TTCTCTCCACGTTTTCCTGTA	0.488		NA											5	18					0	0	0	0
ROR1	4919	broad.mit.edu	37	1	64644143	64644143	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:64644143G>T	uc001dbj.2	+	9	2818	c.2419G>T	c.(2419-2421)GGC>TGC	p.G807C	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	807	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TGGTTTCATTGGCCCGCCAAT	0.517		NA											15	38					4.15e-12	9.62e-12	1	0
LRRC7	57554	broad.mit.edu	37	1	70460276	70460276	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:70460276G>A	uc001dep.2	+	9	880	c.850G>A	c.(850-852)GAT>AAT	p.D284N	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	284	LRR 12.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TCTAAAAGTAGATGACAATCA	0.328		NA											14	64					0	0	0	0
FAM73A	374986	broad.mit.edu	37	1	78324717	78324717	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:78324717G>T	uc001dhx.2	+	9	1123	c.1091G>T	c.(1090-1092)GGA>GTA	p.G364V	FAM73A_uc010ork.1_Missense_Mutation_p.G364V|FAM73A_uc010orl.1_Missense_Mutation_p.G326V|FAM73A_uc001dhy.1_Missense_Mutation_p.G153V	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	364						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		GTTGAAGAAGGAAAAATTTAC	0.383		NA											6	35					3.6e-05	6.97e-05	1	0
F3	2152	broad.mit.edu	37	1	94997876	94997876	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997876C>T	uc001dqr.2	-	5	930	c.751_splice	c.e5+1	p.E251_splice	F3_uc001dqp.2_Splice_Site|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	coagulation factor III precursor						activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GAGCCACTCACCTCTGAATTC	0.542		NA											16	54					0	0	0	0
F3	2152	broad.mit.edu	37	1	94997899	94997899	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997899G>T	uc001dqr.2	-	5	908	c.729C>A	c.(727-729)GGC>GGA	p.G243G	F3_uc001dqp.2_RNA|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	coagulation factor III precursor	243	Extracellular (Potential).				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTTCTCCTGGCCCATACACT	0.532		NA											17	62					1.78e-19	4.33e-19	1	0
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152128617T>C	uc001ezs.1	-	3	1023	c.958A>G	c.(958-960)AGT>GGT	p.S320G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	320	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TCCGTCTGACTGTAGTGGGAA	0.507		NA											6	838					0	0	0	0
IVL	3713	broad.mit.edu	37	1	152882573	152882573	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152882573A>G	uc001fau.2	+	2	346	c.300A>G	c.(298-300)AAA>AAG	p.K100K		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	100					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATATCAGAAAGCAGAAAACC	0.323		NA											16	32					0	0	0	0
PEAR1	375033	broad.mit.edu	37	1	156882415	156882415	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:156882415G>T	uc001fqj.1	+	17	2325	c.2209_splice	c.e17+1	p.G737_splice	PEAR1_uc001fqk.1_Splice_Site_p.G362_splice	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1							integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGATTGGTGAGTTCTTT	0.602		NA											37	36					4.63e-21	1.13e-20	1	0
SPTA1	6708	broad.mit.edu	37	1	158641851	158641851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:158641851C>A	uc001fst.1	-	11	1685	c.1486G>T	c.(1486-1488)GAG>TAG	p.E496*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	496	Spectrin 6.				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)					CCCGTTACCTCTTGTCTACTC	0.493		NA											40	47					3.71e-28	9.19e-28	1	0
LRRC52	440699	broad.mit.edu	37	1	165532977	165532977	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:165532977C>T	uc001gde.2	+	2	914	c.858C>T	c.(856-858)GAC>GAT	p.D286D	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	286	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAGATGAGGACGAGGCCGGGA	0.572		NA											5	50					0	0	0	0
SELP	6403	broad.mit.edu	37	1	169565302	169565302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169565302G>T	uc001ggi.3	-	12	2027	c.1962C>A	c.(1960-1962)TAC>TAA	p.Y654*	SELP_uc001ggh.2_Nonsense_Mutation_p.Y489*|SELP_uc009wvr.2_Nonsense_Mutation_p.Y654*	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	654	Extracellular (Potential).|Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GATGCCTACAGTACATGGTTC	0.498		NA											61	238					5.11e-33	1.27e-32	1	0
SELP	6403	broad.mit.edu	37	1	169572435	169572435	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169572435G>T	uc001ggi.3	-	10	1599	c.1534C>A	c.(1534-1536)CCT>ACT	p.P512T	SELP_uc001ggh.2_Missense_Mutation_p.P347T|SELP_uc009wvr.2_Missense_Mutation_p.P512T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	512	Extracellular (Potential).|Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTTAGCAAAGGTGTGCAGGGA	0.383		NA											42	68					2.25e-20	5.48e-20	1	0
VASH2	79805	broad.mit.edu	37	1	213134597	213134597	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:213134597G>T	uc001hjy.2	+	2	569	c.365_splice	c.e2+1	p.Q122_splice	VASH2_uc001hju.2_Splice_Site_p.Q122_splice|VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Splice_Site_p.Q57_splice|VASH2_uc010ptn.1_Splice_Site_p.Q18_splice|VASH2_uc001hjw.2_Splice_Site_p.H122_splice	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	vasohibin 2 isoform 3						positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm					0				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGACCCTACAGTATCCTTCCA	0.537		NA											46	89					7.05e-23	1.73e-22	1	0
SMYD2	56950	broad.mit.edu	37	1	214488115	214488115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:214488115G>A	uc010ptx.1	+	3	281	c.248G>A	c.(247-249)TGG>TAG	p.W83*	SMYD2_uc009xdj.2_5'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	83	MYND-type.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AAAGAAGATTGGCCCATGCAC	0.428		NA											10	52					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215987092	215987092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:215987092G>C	uc001hku.1	-	49	10112	c.9725C>G	c.(9724-9726)GCT>GGT	p.A3242G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3242	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)		TAGAATTCTAGCGTAATACCC	0.418		NA								HNSCC(13;0.011)			13	60					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216595476	216595476	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:216595476T>A	uc001hku.1	-	2	590	c.203A>T	c.(202-204)CAC>CTC	p.H68L	USH2A_uc001hkv.2_Missense_Mutation_p.H68L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	68	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)		AGCAGAGCTGTGACAAAAAGT	0.493		NA								HNSCC(13;0.011)			21	26					0	0	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089179	220089179	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:220089179C>A	uc001hlw.2	-	4	1281	c.1070G>T	c.(1069-1071)AGG>ATG	p.R357M	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.R112M|SLC30A10_uc001hlx.2_Missense_Mutation_p.R132M	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	357	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGATATCCCCTGTCCTTAGG	0.453		NA											19	99					3.52e-12	8.17e-12	1	0
HHIPL2	79802	broad.mit.edu	37	1	222721186	222721186	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:222721186G>A	uc001hnh.1	-	1	259	c.201C>T	c.(199-201)TTC>TTT	p.F67F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	67					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567		NA											8	43					0	0	0	0
URB2	9816	broad.mit.edu	37	1	229773042	229773042	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:229773042C>T	uc001hts.1	+	4	2818	c.2682C>T	c.(2680-2682)ATC>ATT	p.I894I	URB2_uc009xfd.1_Silent_p.I894I	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	894						nucleolus				central_nervous_system(2)|ovary(1)	3						TGGAAAGCATCCTGGGGCTTT	0.498		NA											54	85					0	0	0	0
HEATR1	55127	broad.mit.edu	37	1	236729217	236729217	+	Splice_Site	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:236729217A>T	uc001hyd.1	-	31	4560	c.4435_splice	c.e31+1	p.E1479_splice	HEATR1_uc009xgh.1_Splice_Site_p.E641_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCTACGCTTACCTTCTTTTT	0.383		NA											17	46					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237777666	237777666	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:237777666C>A	uc001hyl.1	+	37	5358	c.5238C>A	c.(5236-5238)CAC>CAA	p.H1746Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1746	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAAAAACACGGCCTTCCAG	0.517		NA											12	38					3.07e-06	6.26e-06	1	0
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:240371390G>T	uc010pyd.1	+	5	3503	c.3278G>T	c.(3277-3279)GGA>GTA	p.G1093V	FMN2_uc010pye.1_Missense_Mutation_p.G1097V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1093	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726		NA											5	22					0.00198382	0.00355328	1	0
CEP170	9859	broad.mit.edu	37	1	243349134	243349134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:243349134C>A	uc001hzs.2	-	10	1921	c.1513G>T	c.(1513-1515)GAG>TAG	p.E505*	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	505						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTCTAACTCAATGGTATAA	0.353		NA											24	107					9.78e-22	2.4e-21	1	0
KIF26B	55083	broad.mit.edu	37	1	245849896	245849896	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:245849896G>A	uc001ibf.1	+	12	4051	c.3611G>A	c.(3610-3612)AGC>AAC	p.S1204N	KIF26B_uc001ibg.1_Missense_Mutation_p.S822N|KIF26B_uc001ibh.1_Missense_Mutation_p.S446N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1204					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTCCTGGACAGCGGCCGCCCC	0.657		NA											4	13					0	0	0	0
NLRP3	114548	broad.mit.edu	37	1	247599410	247599410	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:247599410C>A	uc001icr.2	+	8	2775	c.2637C>A	c.(2635-2637)GCC>GCA	p.A879A	NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.A879A|NLRP3_uc001icw.2_Silent_p.A822A|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.A857A	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	879					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAAAAAGCCAAGAATCCAC	0.438		NA											17	29					6.94e-10	1.56e-09	1	0
OR2M4	26245	broad.mit.edu	37	1	248402450	248402450	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248402450A>T	uc010pzh.1	+	1	220	c.220A>T	c.(220-222)ATC>TTC	p.I74F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCATGCTCATCTGCACCAC	0.458		NA											18	86					0	0	0	0
OR2T6	254879	broad.mit.edu	37	1	248551255	248551255	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248551255G>C	uc001iei.1	+	1	346	c.346G>C	c.(346-348)GGG>CGG	p.G116R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCCTGCTGGGGCTCATGGC	0.567		NA											18	62					0	0	0	0
GDI2	2665	broad.mit.edu	37	10	5836966	5836966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:5836966C>T	uc001iil.3	-	4	561	c.270G>A	c.(268-270)ATG>ATA	p.M90I	GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.M94I	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	90					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TATAAAGCAGCATCTTAACCA	0.333		NA											27	37					0	0	0	0
GATA3	2625	broad.mit.edu	37	10	8100316	8100316	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:8100316T>A	uc001ika.2	+	3	847	c.290T>A	c.(289-291)CTG>CAG	p.L97Q	GATA3_uc001ijz.2_Missense_Mutation_p.L97Q	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	97					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CTACCCTGGCTGGACGGCGGC	0.687		NA	F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						15	98					0	0	0	0
MBL2	4153	broad.mit.edu	37	10	54529051	54529051	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:54529051G>C	uc001jjt.2	-	3	394	c.329C>G	c.(328-330)TCA>TGA	p.S110*		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	110					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						TTTTCTTTCTGAGGCAGCCAG	0.408		NA											19	106					0	0	0	0
RTKN2	219790	broad.mit.edu	37	10	63957982	63957982	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:63957982G>A	uc001jlw.2	-	12	1612	c.1515C>T	c.(1513-1515)CCC>CCT	p.P505P	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.P159P	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	505					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGAAGGGGAGCTTGTC	0.398		NA											29	123					0	0	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726465	67726465	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:67726465G>A	uc009xpn.1	-	17	2428	c.2305C>T	c.(2305-2307)CTG>TTG	p.L769L	CTNNA3_uc001jmw.2_Silent_p.L769L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	769					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ATCTGTTCCAGGTAGGCCAAC	0.403		NA											12	46					0	0	0	0
KIAA0913	23053	broad.mit.edu	37	10	75560118	75560118	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:75560118C>G	uc009xrl.2	+	23	4931	c.4899C>G	c.(4897-4899)ACC>ACG	p.T1633T	KIAA0913_uc001jve.2_Silent_p.T1638T|KIAA0913_uc001jvf.2_Silent_p.T1451T|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.T1060T|KIAA0913_uc010qkr.1_Silent_p.T1048T|KIAA0913_uc001jvj.2_Silent_p.T1048T|KIAA0913_uc009xrn.1_Silent_p.T44T	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1633	Pro-rich.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CTGCCCTGACCACACAGCCCA	0.607		NA											17	76					0	0	0	0
LRIT1	26103	broad.mit.edu	37	10	85992040	85992040	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:85992040G>T	uc001kcz.1	-	4	1537	c.1515C>A	c.(1513-1515)CCC>CCA	p.P505P		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	505	Fibronectin type-III.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GCTCCTTCCGGGGCACCAGGC	0.552		NA											6	15					8.13e-05	0.000155366	1	0
FAM190B	54462	broad.mit.edu	37	10	86133458	86133458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:86133458C>T	uc001kdh.1	+	3	1695	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F	FAM190B_uc001kdg.1_Missense_Mutation_p.L501F|FAM190B_uc010qmd.1_Missense_Mutation_p.L501F	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	501										ovary(3)|skin(1)	4						TTCGTTTGAACTCTCTCCATC	0.428		NA											6	27					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	96064340	96064340	+	Nonsense_Mutation	SNP	C	C	T	rs121912604		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:96064340C>T	uc001kjk.2	+	25	6194	c.5560C>T	c.(5560-5562)CAG>TAG	p.Q1854*	PLCE1_uc010qnx.1_Nonsense_Mutation_p.Q1838*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.Q1546*|PLCE1_uc001kjp.2_Nonsense_Mutation_p.Q212*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1854					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CCCCATGTATCAGAAGTTTTC	0.433		NA											18	80					0	0	0	0
C10orf76	79591	broad.mit.edu	37	10	103771498	103771498	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:103771498G>C	uc009xwy.1	-	11	915	c.813C>G	c.(811-813)TTC>TTG	p.F271L		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	271						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTAAAGCAGAGAAAAAACCAC	0.358		NA											8	32					0	0	0	0
COL17A1	1308	broad.mit.edu	37	10	105793987	105793987	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:105793987C>T	uc001kxr.2	-	52	4041	c.3872G>A	c.(3871-3873)GGT>GAT	p.G1291D	COL17A1_uc001kxq.2_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1291	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCTACCCCGACTGTG	0.672		NA											4	21					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108377909	108377909	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:108377909T>A	uc001kym.2	-	21	2926	c.2918A>T	c.(2917-2919)TAT>TTT	p.Y973F	SORCS1_uc001kyl.2_Missense_Mutation_p.Y973F|SORCS1_uc009xxs.2_Missense_Mutation_p.Y973F|SORCS1_uc001kyn.1_Missense_Mutation_p.Y973F|SORCS1_uc001kyo.2_Missense_Mutation_p.Y973F	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	973	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTCACCATATACTGCGAT	0.478		NA											13	61					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135012615	135012615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135012615G>T	uc001llz.1	+	14	2604	c.2603G>T	c.(2602-2604)CGG>CTG	p.R868L	KNDC1_uc001lma.1_Missense_Mutation_p.R803L|KNDC1_uc001lmb.1_Missense_Mutation_p.R280L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	868	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGCCGCGGCCCGCAGAC	0.731		NA											4	12					0.00024832	0.000464718	1	0
FRG2B	441581	broad.mit.edu	37	10	135440300	135440300	+	Splice_Site	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135440300G>C	uc010qvg.1	-	1	1	c.-52_splice	c.e1-1			NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B							nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCAGAGTGTGGGTTAGTCTGC	0.522		NA											4	28					0	0	0	0
OR51G1	79324	broad.mit.edu	37	11	4945221	4945221	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:4945221G>A	uc010qyr.1	-	1	349	c.349C>T	c.(349-351)CTG>TTG	p.L117L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGATAACAGAACTGATGAC	0.507		NA											10	30					0	0	0	0
OR51I2	390064	broad.mit.edu	37	11	5474807	5474807	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5474807C>A	uc010qzf.1	+	1	89	c.89C>A	c.(88-90)CCC>CAC	p.P30H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCAGGGCCCCTCTGCGTG	0.557		NA											19	29					2.35e-11	5.39e-11	1	0
TRIM5	85363	broad.mit.edu	37	11	5701005	5701005	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5701005C>A	uc001mbm.1	-	2	660	c.403G>T	c.(403-405)GCC>TCC	p.A135S	TRIM5_uc001mbq.1_Missense_Mutation_p.A135S|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A135S|TRIM5_uc001mbo.2_Missense_Mutation_p.A135S|TRIM5_uc001mbp.2_Missense_Mutation_p.A135S	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	135	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TACTCCCGGGCAACCTCCTCT	0.512		NA											11	53					6.4e-05	0.000123112	1	0
OR52N1	79473	broad.mit.edu	37	11	5809561	5809561	+	Silent	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5809561A>C	uc010qzo.1	-	1	486	c.486T>G	c.(484-486)ACT>ACG	p.T162T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTGAGGAAAGTGGAAGGGA	0.498		NA											10	33					0	0	0	0
OR56A1	120796	broad.mit.edu	37	11	6048932	6048932	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:6048932C>A	uc010qzw.1	-	1	3	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCTGAATCATGAGCTGAG	0.458		NA											31	86					8.17e-17	1.95e-16	1	0
ABCC8	6833	broad.mit.edu	37	11	17426158	17426158	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:17426158A>T	uc001mnc.2	-	28	3584	c.3458T>A	c.(3457-3459)CTG>CAG	p.L1153Q		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1153	Helical; Name=14; (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGACGGCCAGGGCTGAGAC	0.597		NA											8	12					0	0	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396420	22396420	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:22396420C>A	uc001mqk.2	+	9	1574	c.1161C>A	c.(1159-1161)ATC>ATA	p.I387I		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	387	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGAGAAAGATCATGAATTGTG	0.353		NA											24	85					1.85e-09	4.12e-09	1	0
OR4A5	81318	broad.mit.edu	37	11	51411502	51411502	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:51411502G>C	uc001nhi.1	-	1	894	c.894C>G	c.(892-894)CTC>CTG	p.L298L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TTTTACCCAAGAGTTTTTCTA	0.353		NA											4	10					0	0	0	0
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	A	rs143761060		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55563722C>A	uc010rim.1	+	1	691	c.691C>A	c.(691-693)CGT>AGT	p.R231S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473		NA											15	81					3.46e-05	6.8e-05	1	0
OR5L1	219437	broad.mit.edu	37	11	55579653	55579653	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55579653C>T	uc001nhw.1	+	1	711	c.711C>T	c.(709-711)GCC>GCT	p.A237A		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GGCACAAAGCCTTCTCCACCT	0.502		NA											23	68					0	0	0	0
OR5AR1	219493	broad.mit.edu	37	11	56432020	56432020	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:56432020C>A	uc010rjm.1	+	1	859	c.859C>A	c.(859-861)CCC>ACC	p.P287T		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATGTTAAATCCCTTGATCTA	0.408		NA											10	38					2.18e-05	4.3e-05	1	0
OR5B17	219965	broad.mit.edu	37	11	58126434	58126434	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:58126434G>T	uc010rke.1	-	1	109	c.109C>A	c.(109-111)CTG>ATG	p.L37M		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTCAGAGTGATGAGG	0.458		NA											10	61					0.000442599	0.000813707	1	0
OR4D10	390197	broad.mit.edu	37	11	59245729	59245729	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:59245729C>A	uc001nnz.1	+	1	827	c.827C>A	c.(826-828)ACT>AAT	p.T276N		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTCACCTTCACTGTCATCTCC	0.527		NA											28	113					2.61e-14	6.17e-14	1	0
FEN1	2237	broad.mit.edu	37	11	61563897	61563897	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:61563897G>T	uc001nsg.2	+	2	1436	c.1064G>T	c.(1063-1065)CGC>CTC	p.R355L		NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	355					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			ovary(1)	1						TCAGCTAAGCGCAAGGAGCCA	0.532		NA						Direct_reversal_of_damage|Editing_and_processing_nucleases					5	20					0.000602214	0.00109749	1	0
PACS1	55690	broad.mit.edu	37	11	65995047	65995047	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:65995047G>T	uc001oha.1	+	11	1500	c.1366G>T	c.(1366-1368)GAC>TAC	p.D456Y	PACS1_uc010rou.1_5'Flank	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	456					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GACTGAAACAGACACTCTGGT	0.373		NA											5	23					1.24e-05	2.47e-05	1	0
NDUFS8	4728	broad.mit.edu	37	11	67803822	67803822	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67803822G>C	uc001onc.2	+	6	582	c.475G>C	c.(475-477)GCC>CCC	p.A159P	NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_Missense_Mutation_p.A159P|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	159	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	CTGCCAGGAGGCCTGTCCCGT	0.652		NA											7	35					0	0	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238392	71238393	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238392_71238393GG>AT	uc001oqq.1	+	1	80_81	c.46_47GG>AT	c.(46-48)GGC>ATC	p.G16I		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament					0						CGGCTGTGGGGGCTGTGGCTCC	0.658		NA											345	193					0	0	0	0
MMP8	4317	broad.mit.edu	37	11	102595499	102595499	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:102595499T>C	uc001phe.2	-	1	187	c.88A>G	c.(88-90)ACA>GCA	p.T30A	MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_Translation_Start_Site	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	30					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACAGTTTTTGTATTTTTCTCT	0.363		NA											39	116					0	0	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480966	123480966	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:123480966C>T	uc001pyx.2	+	13	1739	c.1410C>T	c.(1408-1410)CAC>CAT	p.H470H	GRAMD1B_uc001pyw.2_Silent_p.H477H|GRAMD1B_uc010rzw.1_Silent_p.H430H|GRAMD1B_uc010rzx.1_Silent_p.H430H|GRAMD1B_uc001pyy.2_Silent_p.H161H	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	470						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCACCCACGACGTGCCCT	0.542		NA											17	46					0	0	0	0
OR8B3	390271	broad.mit.edu	37	11	124266426	124266426	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:124266426A>T	uc010saj.1	-	1	822	c.822T>A	c.(820-822)TCT>TCA	p.S274S	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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;0.0277)		TGTAGAAAACAGAAGAAACTT	0.403		NA											16	65					0	0	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286106	130286106	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:130286106A>G	uc001qgg.3	-	4	1574	c.1216T>C	c.(1216-1218)TCC>CCC	p.S406P		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	406	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTGCAGGGGGACCAGGGCAGC	0.677		NA											2	4					0	0	0	0
CACNA1C	775	broad.mit.edu	37	12	2690864	2690864	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:2690864G>T	uc009zdu.1	+	14	2317	c.2004G>T	c.(2002-2004)CTG>CTT	p.L668L	CACNA1C_uc009zdv.1_Silent_p.L665L|CACNA1C_uc001qkb.2_Silent_p.L668L|CACNA1C_uc001qkc.2_Silent_p.L668L|CACNA1C_uc001qke.2_Silent_p.L668L|CACNA1C_uc001qkf.2_Silent_p.L668L|CACNA1C_uc001qjz.2_Silent_p.L668L|CACNA1C_uc001qkd.2_Silent_p.L668L|CACNA1C_uc001qkg.2_Silent_p.L668L|CACNA1C_uc009zdw.1_Silent_p.L668L|CACNA1C_uc001qkh.2_Silent_p.L668L|CACNA1C_uc001qkl.2_Silent_p.L668L|CACNA1C_uc001qkn.2_Silent_p.L668L|CACNA1C_uc001qko.2_Silent_p.L668L|CACNA1C_uc001qkp.2_Silent_p.L668L|CACNA1C_uc001qkr.2_Silent_p.L668L|CACNA1C_uc001qku.2_Silent_p.L668L|CACNA1C_uc001qkq.2_Silent_p.L668L|CACNA1C_uc001qks.2_Silent_p.L668L|CACNA1C_uc001qkt.2_Silent_p.L668L|CACNA1C_uc001qka.1_Silent_p.L203L|CACNA1C_uc001qki.1_Silent_p.L404L|CACNA1C_uc001qkj.1_Silent_p.L404L|CACNA1C_uc001qkk.1_Silent_p.L404L|CACNA1C_uc001qkm.1_Silent_p.L404L|CACNA1C_uc001qkw.2_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	668	II.|Helical; Name=S5 of repeat II; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tctccctcctGGGGATGCAGC	0.423		NA											4	29					0.00024832	0.000464718	1	0
FOXJ2	55810	broad.mit.edu	37	12	8196611	8196611	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:8196611G>T	uc001qtu.2	+	5	1627	c.542G>T	c.(541-543)GGA>GTA	p.G181V	FOXJ2_uc001qtt.1_Missense_Mutation_p.G181V	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	181					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GCAGGGAGTGGAGAAGCCTCA	0.542		NA											20	89					7.21e-19	1.74e-18	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716163	13716163	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:13716163C>G	uc001rbt.2	-	13	4188	c.4009G>C	c.(4009-4011)GCC>CCC	p.A1337P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1337	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGTGGGCGTAGGGGCTC	0.612		NA											28	67					0	0	0	0
SLCO1B3	28234	broad.mit.edu	37	12	20968719	20968719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:20968719C>G	uc001rek.2	+	2	173	c.47C>G	c.(46-48)TCA>TGA	p.S16*	SLCO1B3_uc001rel.2_Nonsense_Mutation_p.S16*|SLCO1B3_uc010sil.1_Nonsense_Mutation_p.S16*|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.S16*	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	16	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)					TCAGCATCTTCAGAGAAAAAG	0.299		NA											8	39					0	0	0	0
LST-3TM12	338821	broad.mit.edu	37	12	21196321	21196321	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:21196321G>T	uc010sin.1	+	6	640	c.640G>T	c.(640-642)GGT>TGT	p.G214C	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.G261C	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	214						membrane	transporter activity				0						TTGGTGGCTTGGTTTCCTTGT	0.363		NA											21	139					7.42e-09	1.63e-08	1	0
SOX5	6660	broad.mit.edu	37	12	23689547	23689547	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:23689547C>G	uc001rfw.2	-	14	1930	c.1828G>C	c.(1828-1830)GCC>CCC	p.A610P	SOX5_uc001rfx.2_Missense_Mutation_p.A597P|SOX5_uc001rfy.2_Missense_Mutation_p.A489P|SOX5_uc001rfv.2_Missense_Mutation_p.A224P|SOX5_uc010siv.1_Missense_Mutation_p.A597P|SOX5_uc010siw.1_RNA	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	610	HMG box.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CTGAGACGGGCTTGCTCCTCA	0.493		NA											31	89					0	0	0	0
IPO8	10526	broad.mit.edu	37	12	30792543	30792543	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:30792543G>A	uc001rjd.2	-	21	2565	c.2395C>T	c.(2395-2397)CAT>TAT	p.H799Y	IPO8_uc001rje.1_Missense_Mutation_p.H288Y|IPO8_uc010sjt.1_Missense_Mutation_p.H594Y	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	799					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTAAAGTATGTAGCAGCAAA	0.403		NA											25	49					0	0	0	0
ACVRL1	94	broad.mit.edu	37	12	52309931	52309931	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:52309931C>A	uc001rzj.2	+	8	1443	c.1160C>A	c.(1159-1161)ACG>AAG	p.T387K	ACVRL1_uc001rzk.2_Missense_Mutation_p.T387K|ACVRL1_uc010snm.1_Missense_Mutation_p.T213K	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	387	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGATCCGCACGGACTGCTTT	0.612		NA							Hereditary_Hemorrhagic_Telangiectasia				11	54					0.000673444	0.00122373	1	0
MARS	4141	broad.mit.edu	37	12	57908991	57908991	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:57908991A>G	uc001sog.2	+	18	2286	c.2263A>G	c.(2263-2265)ATG>GTG	p.M755V	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.M521V|MARS_uc001soh.1_3'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	755					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTCTCTGTCATGCTTCAGCC	0.547		NA											44	42					0	0	0	0
GEFT	115557	broad.mit.edu	37	12	58009731	58009731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:58009731C>T	uc001spb.2	+	13	1811	c.1351C>T	c.(1351-1353)CCT>TCT	p.P451S	GEFT_uc009zpy.2_Missense_Mutation_p.P490S|GEFT_uc001spa.2_Missense_Mutation_p.P345S|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.P156S	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	451	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GGCTGCAGACCCTGCTATCAG	0.592		NA											25	105					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78562638	78562638	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:78562638C>A	uc001syp.2	+	24	5146	c.4973C>A	c.(4972-4974)CCT>CAT	p.P1658H	NAV3_uc001syo.2_Missense_Mutation_p.P1658H|NAV3_uc010sub.1_Missense_Mutation_p.P1144H|NAV3_uc009zsf.2_Missense_Mutation_p.P489H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1658						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCAGACCATCCTCCCAAAGGT	0.378		NA								HNSCC(70;0.22)			19	75					1.16e-05	2.31e-05	1	0
UTP20	27340	broad.mit.edu	37	12	101679354	101679354	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:101679354G>A	uc001tia.1	+	3	289	c.133G>A	c.(133-135)GAA>AAA	p.E45K	UTP20_uc009ztz.1_Missense_Mutation_p.E45K	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	45					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ACAGGAGGTTGAAACCTACTT	0.308		NA											20	50					0	0	0	0
NCOR2	9612	broad.mit.edu	37	12	124862827	124862827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124862827G>A	uc010tba.1	-	18	2240	c.2123C>T	c.(2122-2124)TCG>TTG	p.S708L	NCOR2_uc010tay.1_Missense_Mutation_p.S708L|NCOR2_uc010taz.1_Missense_Mutation_p.S708L|NCOR2_uc010tbb.1_Missense_Mutation_p.S708L|NCOR2_uc010tbc.1_Missense_Mutation_p.S707L|NCOR2_uc001ugj.1_Missense_Mutation_p.S708L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	708					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCACGCCCGACGCCTCCAT	0.667		NA											24	50					0	0	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926854	130926854	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:130926854C>A	uc001uil.2	-	8	1156	c.992G>T	c.(991-993)AGC>ATC	p.S331I	RIMBP2_uc001uim.2_Missense_Mutation_p.S239I|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	331	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACGTTGTAGCTGCTCACCGT	0.562		NA											19	99					1.96e-10	4.44e-10	1	0
MRP63	78988	broad.mit.edu	37	13	21751049	21751049	+	Splice_Site	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:21751049A>C	uc001unw.2	+	2	486	c.-4_splice	c.e2-2		SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63												0		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		TCTCTTCCGCAGGCACCATGT	0.716		NA											3	46					0	0	0	0
PARP4	143	broad.mit.edu	37	13	25033197	25033197	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:25033197A>T	uc001upl.2	-	20	2515	c.2409T>A	c.(2407-2409)CAT>CAA	p.H803Q	PARP4_uc010tdc.1_Missense_Mutation_p.H803Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	803					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTTCAGTTCATGTGTATCAC	0.269		NA											7	25					0	0	0	0
RXFP2	122042	broad.mit.edu	37	13	32313845	32313845	+	Splice_Site	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:32313845T>C	uc001utt.2	+	1	165	c.94_splice	c.e1+2	p.D32_splice	RXFP2_uc010aba.2_Splice_Site_p.D15_splice	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATGTCAAAGGTAAGGTTGCTA	0.313		NA											37	36					0	0	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748876	36748876	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:36748876G>C	uc001uvj.2	-	7	861	c.772C>G	c.(772-774)CCA>GCA	p.P258A	SOHLH2_uc010tei.1_Missense_Mutation_p.P335A	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	258					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATAACGGCTGGAGAGATTTTC	0.368		NA											19	40					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58206853	58206853	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:58206853G>C	uc001vhq.1	+	1	1065	c.173G>C	c.(172-174)CGC>CCC	p.R58P	PCDH17_uc010aec.1_Missense_Mutation_p.R58P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	58	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGGAGGGCGCAGCAAGTCG	0.692		NA											4	12					0	0	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369426	86369426	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:86369426C>T	uc001vll.1	-	2	1677	c.1218G>A	c.(1216-1218)TCG>TCA	p.S406S	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	406	Extracellular (Potential).|LRR 7.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGTTCATAAACGATCCTTCTT	0.338		NA											9	18					0	0	0	0
F10	2159	broad.mit.edu	37	13	113803734	113803734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:113803734C>A	uc001vsx.2	+	8	1427	c.1370C>A	c.(1369-1371)GCC>GAC	p.A457D	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	457	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGTCACCGCCTTCCTCAAG	0.572		NA											19	61					5.35e-07	1.13e-06	1	0
FOXG1	2290	broad.mit.edu	37	14	29237169	29237169	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:29237169C>A	uc001wqe.2	+	1	883	c.684C>A	c.(682-684)TCC>TCA	p.S228S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	228	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAGAACTCCATCCGCCACA	0.597		NA											15	9					2.32e-09	5.15e-09	1	0
CTAGE5	4253	broad.mit.edu	37	14	39790183	39790183	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:39790183G>T	uc001wvg.3	+	19	1931	c.1595G>T	c.(1594-1596)AGA>ATA	p.R532I	CTAGE5_uc010tqe.1_Missense_Mutation_p.R494I|CTAGE5_uc001wuz.3_Missense_Mutation_p.R520I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R452I|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.R503I|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.R457I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R537I|CTAGE5_uc010amz.2_Missense_Mutation_p.R148I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R503I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	532	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCTGAAACAAGAGCTTTTCTC	0.418		NA											21	76					1.4e-16	3.34e-16	1	0
TIMM9	26520	broad.mit.edu	37	14	58875876	58875876	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:58875876G>A	uc010aph.2	-	4	361	c.146C>T	c.(145-147)TCA>TTA	p.S49L	TIMM9_uc001xds.2_Missense_Mutation_p.S49L|TIMM9_uc010api.2_Missense_Mutation_p.S49L	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9	49	Twin CX3C motif.				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						GCAATGTTCTGAACAGGTGGT	0.348		NA											23	15					0	0	0	0
CKB	1152	broad.mit.edu	37	14	103986585	103986585	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:103986585G>C	uc001ynf.1	-	7	921	c.841C>G	c.(841-843)CTC>GTC	p.L281V	CKB_uc001yne.1_Missense_Mutation_p.L103V|CKB_uc010awr.1_Missense_Mutation_p.L212V	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	281	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGGCAGGTGAGGATGTAGCCC	0.557		NA											10	30					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408248	105408248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:105408248G>C	uc010axc.1	-	7	13660	c.13540C>G	c.(13540-13542)CAG>GAG	p.Q4514E	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4414E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4514						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)			GAAGGGGCCTGAATGCGGAGG	0.627		NA											25	63					0	0	0	0
MKRN3	7681	broad.mit.edu	37	15	23811612	23811612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr15:23811612C>A	uc001ywh.3	+	1	1159	c.683C>A	c.(682-684)TCA>TAA	p.S228*	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.S228*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	228						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTACAGAGCTCAGAGACTGAG	0.582		NA											14	33					1.52e-12	3.55e-12	1	0
ITGAL	3683	broad.mit.edu	37	16	30518144	30518144	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30518144G>A	uc002dyi.3	+	21	2651	c.2475G>A	c.(2473-2475)CCG>CCA	p.P825P	ITGAL_uc002dyj.3_Silent_p.P741P|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	825	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACTTCCCCCCGGGACTCTCCT	0.602		NA											32	147					0	0	0	0
MYLK3	91807	broad.mit.edu	37	16	46771727	46771727	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46771727C>T	uc002eei.3	-	3	1013	c.897G>A	c.(895-897)GAG>GAA	p.E299E	MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	299					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCGTGCCTTCCTCTAAGGGCT	0.667		NA											21	116					0	0	0	0
GPT2	84706	broad.mit.edu	37	16	46956246	46956246	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46956246C>A	uc002eel.2	+	9	1224	c.1130C>A	c.(1129-1131)CCC>CAC	p.P377H	GPT2_uc002eem.2_Missense_Mutation_p.P277H|GPT2_uc002een.2_5'Flank	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	377					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCCTGTGCCCCCCAGTGTCT	0.612		NA											18	50					2.39e-15	5.66e-15	1	0
NLRC5	84166	broad.mit.edu	37	16	57060492	57060492	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:57060492G>T	uc002ekk.1	+	6	1862	c.1637G>T	c.(1636-1638)CGC>CTC	p.R546L	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351L|NLRC5_uc002ekl.2_Missense_Mutation_p.R351L|NLRC5_uc002ekm.2_Missense_Mutation_p.R351L|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CTCCATTCCCGCTGGGTACAG	0.612		NA											35	64					3.66e-26	9.03e-26	1	0
LRRC36	55282	broad.mit.edu	37	16	67404886	67404886	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67404886T>C	uc002esv.2	+	9	1254	c.1235T>C	c.(1234-1236)GTA>GCA	p.V412A	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.V144A|LRRC36_uc002esx.2_Missense_Mutation_p.V291A|LRRC36_uc010vjk.1_Missense_Mutation_p.V291A|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	412											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACCCTGCTGTACTTGTCAAT	0.388		NA											36	99					0	0	0	0
THAP11	57215	broad.mit.edu	37	16	67876755	67876755	+	Missense_Mutation	SNP	G	G	T	rs142722815	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67876755G>T	uc002euo.2	+	1	543	c.298G>T	c.(298-300)GCC>TCC	p.A100S	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	100	Poly-Ala.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ggccgcggccgcccgccgcAG	0.308		NA											6	26					1.26e-09	2.82e-09	1	0
CDH1	999	broad.mit.edu	37	16	68853297	68853297	+	Silent	SNP	G	G	A	rs35741240	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:68853297G>A	uc002ewg.1	+	11	1804	c.1680G>A	c.(1678-1680)ACG>ACA	p.T560T	CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Silent_p.T499T	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	560	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAACAGCACGTACACAGCCC	0.542		NA	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				12	33					0	0	0	0
ATP2C2	9914	broad.mit.edu	37	16	84495694	84495694	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:84495694C>A	uc002fhx.2	+	26	2770	c.2681C>A	c.(2680-2682)CCG>CAG	p.P894Q	ATP2C2_uc010chj.2_Missense_Mutation_p.P923Q|ATP2C2_uc002fhy.2_Missense_Mutation_p.P911Q|ATP2C2_uc002fhz.2_Missense_Mutation_p.P743Q|ATP2C2_uc002fia.2_Missense_Mutation_p.P205Q	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	894	Helical; Name=9; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TACATCCCCCCGCTGCAGAGG	0.617		NA											19	106					5.35e-07	1.13e-06	1	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7577106G>A	uc002gim.2	-	8	1026	c.832C>T	c.(832-834)CCT>TCT	p.P278S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		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)			8	28					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7578211C>A	uc002gim.2	-	6	832	c.638G>T	c.(637-639)CGA>CTA	p.R213L	TP53_uc002gig.1_Missense_Mutation_p.R213L|TP53_uc002gih.2_Missense_Mutation_p.R213L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81L|TP53_uc010cng.1_Missense_Mutation_p.R81L|TP53_uc002gii.1_Missense_Mutation_p.R81L|TP53_uc010cnh.1_Missense_Mutation_p.R213L|TP53_uc010cni.1_Missense_Mutation_p.R213L|TP53_uc002gij.2_Missense_Mutation_p.R213L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120L|TP53_uc002gio.2_Missense_Mutation_p.R81L|TP53_uc010vug.1_Missense_Mutation_p.R174L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		CACACTATGTCGAAAAGTGTT	0.532		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)			12	18					9.31e-06	1.87e-05	1	0
CNTROB	116840	broad.mit.edu	37	17	7851510	7851510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7851510C>T	uc002gjq.2	+	17	3164	c.2245C>T	c.(2245-2247)CAA>TAA	p.Q749*	CNTROB_uc002gjp.2_Nonsense_Mutation_p.Q749*|CNTROB_uc002gjr.2_Nonsense_Mutation_p.Q651*	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	749	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				GGAAGCCCCTCAAGTGCCACG	0.537		NA											17	108					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10318851	10318851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:10318851G>A	uc002gmm.2	-	7	681	c.586C>T	c.(586-588)CAA>TAA	p.Q196*	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	196	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GCAAAGTATTGGATGACACGC	0.458		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				39	55					0	0	0	0
PIGL	9487	broad.mit.edu	37	17	16203244	16203244	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:16203244C>T	uc002gpv.2	+	3	410	c.378C>T	c.(376-378)CAC>CAT	p.H126H	PIGL_uc010vwd.1_Silent_p.H126H	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	126	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ACACAGAGCACGTGGCCAGAG	0.507		NA											20	106					0	0	0	0
FLII	2314	broad.mit.edu	37	17	18155815	18155815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18155815C>T	uc002gsr.1	-	10	1120	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K	FLII_uc002gsq.1_Missense_Mutation_p.E229K|FLII_uc010cpy.1_Missense_Mutation_p.E346K|FLII_uc010vxn.1_Missense_Mutation_p.E326K|FLII_uc010vxo.1_Missense_Mutation_p.E303K|FLII_uc002gss.1_Missense_Mutation_p.E357K	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	357	LRR 15.|Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TGGATGGCTTCTGGGAGGGTC	0.587		NA											10	72					0	0	0	0
ZNF286B	729288	broad.mit.edu	37	17	18584121	18584121	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18584121G>A	uc010vyd.1	-	3	310	c.59C>T	c.(58-60)CCC>CTC	p.P20L		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	zinc finger protein 286B	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGGAAATGGGGAGAATCCTG	0.473		NA											19	148					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319578	21319578	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:21319578G>C	uc002gyv.1	+	3	1629	c.924G>C	c.(922-924)ATG>ATC	p.M308I		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	308	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CCACAGCCATGACCACCCAGG	0.607		NA								Prostate(3;0.18)			5	101					0	0	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942796	26942796	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:26942796G>A	uc002hbu.2	-	38	6510	c.6411C>T	c.(6409-6411)GAC>GAT	p.D2137D	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Silent_p.D466D	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2137						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GGTCACCCCAGTCCACACTGT	0.537		NA											19	37					0	0	0	0
RHBDL3	162494	broad.mit.edu	37	17	30615953	30615953	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:30615953G>A	uc002hhe.1	+	4	451	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	RHBDL3_uc010csw.1_Missense_Mutation_p.R138Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R146Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R48Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R48Q	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	146					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				ACCCTGCCCCGGGAAATTGAC	0.617		NA											13	68					0	0	0	0
CDC6	990	broad.mit.edu	37	17	38447873	38447873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:38447873G>A	uc002huj.1	+	4	823	c.613G>A	c.(613-615)GGA>AGA	p.G205R		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	205	ATP (Potential).				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TGGTGCTCCTGGAACTGGAAA	0.458		NA											23	122					0	0	0	0
HOXB6	3216	broad.mit.edu	37	17	46673848	46673848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:46673848C>T	uc002ins.1	-	4	927	c.602G>A	c.(601-603)TGG>TAG	p.W201*	HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Nonsense_Mutation_p.W201*|HOXB6_uc002int.1_3'UTR	NM_018952	NP_061825	P17509	HXB6_HUMAN	homeobox B6	201	Homeobox.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCCTTTTTCCACTTCATGCG	0.597		NA											45	236					0	0	0	0
MPO	4353	broad.mit.edu	37	17	56348175	56348175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56348175G>C	uc002ivu.1	-	12	2257	c.2080C>G	c.(2080-2082)CTG>GTG	p.L694V		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	694					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ATCTGGGCCAGGGCCTGTCGC	0.557		NA											4	80					0	0	0	0
TEX14	56155	broad.mit.edu	37	17	56676479	56676479	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56676479C>T	uc010dcz.1	-	14	2363	c.2245G>A	c.(2245-2247)GAG>AAG	p.E749K	TEX14_uc002iwr.1_Missense_Mutation_p.E743K|TEX14_uc002iws.1_Missense_Mutation_p.E743K|TEX14_uc010dda.1_Missense_Mutation_p.E523K	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	749	Potential.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATTCTCGTGCATTATT	0.428		NA											47	152					0	0	0	0
TBX2	6909	broad.mit.edu	37	17	59479058	59479058	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:59479058C>T	uc010wox.1	+	2	690	c.409C>T	c.(409-411)CCC>TCC	p.P137S	TBX2_uc002ize.2_Missense_Mutation_p.P127S|TBX2_uc002izg.2_Intron	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	137	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						GATGTTCCCCCCCTTCAAGGT	0.562		NA											5	42					0	0	0	0
FADS6	283985	broad.mit.edu	37	17	72877306	72877306	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:72877306C>A	uc002jmd.1	-	4	630	c.618G>T	c.(616-618)TGG>TGT	p.W206C	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	212	Helical; (Potential).				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAGGAGCAGCCAGTAGTGAG	0.607		NA											14	14					4.37e-10	9.86e-10	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76967754	76967754	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:76967754C>T	uc002jwh.2	-	6	1841	c.1662G>A	c.(1660-1662)AAG>AAA	p.K554K	LGALS3BP_uc002jwi.2_Silent_p.K360K|LGALS3BP_uc010dhr.2_Silent_p.K360K	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	554					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGAGGTGCTCTTCGAGCTGT	0.622		NA									OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	136					0	0	0	0
METRNL	284207	broad.mit.edu	37	17	81050915	81050915	+	Missense_Mutation	SNP	C	C	T	rs146370282		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:81050915C>T	uc002kgh.2	+	3	685	c.560C>T	c.(559-561)CCG>CTG	p.P187L	METRNL_uc002kgi.2_Missense_Mutation_p.P105L	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	187						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTCCAGCGCCGTGCCGTCCC	0.617		NA											5	17					0	0	0	0
POTEC	388468	broad.mit.edu	37	18	14537933	14537933	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:14537933A>T	uc010dln.2	-	3	1131	c.677T>A	c.(676-678)CTG>CAG	p.L226Q	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	226	ANK 3.									skin(3)	3						GCCATGTTCCAGCAACATTAA	0.383		NA											10	95					0	0	0	0
ALPK2	115701	broad.mit.edu	37	18	56247140	56247140	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:56247140C>T	uc002lhj.3	-	4	1082	c.868G>A	c.(868-870)GTG>ATG	p.V290M		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	290							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TTGTTGGCCACGGCACTGTCA	0.488		NA									OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	59					0	0	0	0
CBLN2	147381	broad.mit.edu	37	18	70209167	70209167	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:70209167C>A	uc002lku.2	-	2	464	c.229G>T	c.(229-231)GCC>TCC	p.A77S	CBLN2_uc002lkv.2_Missense_Mutation_p.A77S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	77						integral to membrane					0		Esophageal squamous(42;0.131)				GAGGTGACGGCGCCGTCCGCC	0.711		NA											8	15					0.000157383	0.000298551	1	0
ARRDC5	645432	broad.mit.edu	37	19	4902866	4902866	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:4902866T>C	uc002mbm.2	-	1	14	c.14A>G	c.(13-15)GAG>GGG	p.E5G		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	5					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAGACATTCCTCTCTGTCCCC	0.542		NA											21	33					0	0	0	0
PRR22	163154	broad.mit.edu	37	19	5783814	5783814	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:5783814C>A	uc002mdb.1	-	1	797	c.438G>T	c.(436-438)CCG>CCT	p.P146P	PRR22_uc010xiv.1_Silent_p.P148P	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	146	Pro-rich.										0						GGCCCTCAGGCGGGAAGTAGG	0.716		NA											6	4					0.00116845	0.00211096	1	0
MUC16	94025	broad.mit.edu	37	19	9012852	9012852	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9012852G>T	uc002mkp.2	-	34	38796	c.38592C>A	c.(38590-38592)ACC>ACA	p.T12864T	MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12866	SEA 6.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	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						ACTGCAGGTTGGTGATGGTGA	0.547		NA											7	139					0.000274275	0.000509484	1	0
MUC16	94025	broad.mit.edu	37	19	9049185	9049185	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9049185C>T	uc002mkp.2	-	5	32650	c.32446G>A	c.(32446-32448)GGT>AGT	p.G10816S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10818	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						GCTGGTTCACCAGGGGAGTTT	0.478		NA											30	82					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9085769	9085769	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9085769G>A	uc002mkp.2	-	1	6250	c.6046C>T	c.(6046-6048)CAT>TAT	p.H2016Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2016	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						GAATTCTCATGGGTAGGGGAA	0.463		NA											17	52					0	0	0	0
OR7D2	162998	broad.mit.edu	37	19	9297244	9297244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9297244G>A	uc002mkz.1	+	1	975	c.787G>A	c.(787-789)GCG>ACG	p.A263T		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	263	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						CTTCACTTCTGCGGTGACTCA	0.512		NA											23	58					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122307	17122307	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:17122307G>A	uc002nfb.2	-	5	626	c.594C>T	c.(592-594)ACC>ACT	p.T198T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	151						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTGGAGAGACGGTGAAGATGC	0.587		NA											30	70					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727499	20727499	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:20727499T>G	uc002npa.2	-	4	1690	c.1510A>C	c.(1510-1512)ACT>CCT	p.T504P		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	504					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TTCTCTCCAGTATGAATTCTC	0.393		NA											4	16					0	0	0	0
ZNF257	113835	broad.mit.edu	37	19	22272134	22272134	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:22272134T>A	uc010ecx.2	+	4	1751	c.1582T>A	c.(1582-1584)TCA>ACA	p.S528T	ZNF257_uc010ecy.2_Missense_Mutation_p.S496T	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAATCGTTTCTCATACCTTAC	0.388		NA											6	24					0	0	0	0
ZNF254	9534	broad.mit.edu	37	19	24310288	24310288	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:24310288G>T	uc002nru.2	+	4	1620	c.1486G>T	c.(1486-1488)GGC>TGC	p.G496C	ZNF254_uc010xrk.1_Missense_Mutation_p.G411C	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	496	C2H2-type 11.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGAAGAATGTGGCAAATCTTT	0.398		NA											10	40					0.000442599	0.000813707	1	0
DLL3	10683	broad.mit.edu	37	19	39994757	39994757	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:39994757G>T	uc002olx.2	+	5	757	c.699G>T	c.(697-699)CAG>CAT	p.Q233H	DLL3_uc010egq.2_Missense_Mutation_p.Q233H|DLL3_uc002olw.2_Missense_Mutation_p.Q233H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	233	EGF-like 1.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTGTGAACAGCCCGGTGAAT	0.647		NA											9	47					3.86e-05	7.46e-05	1	0
AXL	558	broad.mit.edu	37	19	41754717	41754717	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:41754717C>T	uc010ehj.2	+	14	1893	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.T559M	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	568	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCTGTGAAGACGATGAAGAGT	0.547		NA											5	27					0	0	0	0
PSG2	5670	broad.mit.edu	37	19	43579547	43579547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:43579547C>A	uc002ovr.2	-	3	761	c.668G>T	c.(667-669)GGG>GTG	p.G223V	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.G223V|PSG2_uc010eiq.1_Missense_Mutation_p.G223V|PSG2_uc002ovs.3_Missense_Mutation_p.G223V|PSG2_uc002ovt.3_Missense_Mutation_p.G223V	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	223	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				GCTGGCACTCCCTGAGTTCCG	0.507		NA											69	306					9.96e-45	2.49e-44	1	0
FKRP	79147	broad.mit.edu	37	19	47259844	47259844	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:47259844G>C	uc002pfn.2	+	4	1434	c.1137G>C	c.(1135-1137)CGG>CGC	p.R379R	FKRP_uc002pfp.2_Silent_p.R379R	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAGCTGCGGGGGGCAGAGG	0.657		NA											4	17					0	0	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:50462047A>C	uc010ybh.1	-	7	1307	c.1216T>G	c.(1216-1218)TGG>GGG	p.W406G	SIGLEC11_uc010ybi.1_Missense_Mutation_p.W406G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	406	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682		NA											3	70					0	0	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034090	52034090	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52034090G>A	uc002pwy.2	-	3	713	c.551C>T	c.(550-552)TCA>TTA	p.S184L	SIGLEC6_uc002pwz.2_Missense_Mutation_p.S184L|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S184L|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S173L|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S162L|SIGLEC6_uc010epb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010epa.1_Missense_Mutation_p.S173L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	184	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGCAGCTGACATCCAGGA	0.657		NA											15	66					0	0	0	0
ZNF615	284370	broad.mit.edu	37	19	52505068	52505068	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52505068G>T	uc002pye.1	-	5	528	c.236C>A	c.(235-237)TCT>TAT	p.S79Y	ZNF615_uc002pyf.1_Missense_Mutation_p.S79Y|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Missense_Mutation_p.S79Y|ZNF615_uc010epi.1_Missense_Mutation_p.S75Y|ZNF615_uc010ydg.1_Missense_Mutation_p.S84Y	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACTCACCAGAACAGATTCG	0.507		NA											8	33					5.18e-06	1.05e-05	1	0
NLRP13	126204	broad.mit.edu	37	19	56422098	56422098	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:56422098T>A	uc010ygg.1	-	6	2138	c.2113A>T	c.(2113-2115)ACA>TCA	p.T705S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	705							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTTGCTTGTCCTTCATGAG	0.438		NA											18	75					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57326339	57326339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:57326339G>T	uc002qnu.2	-	7	3822	c.3471C>A	c.(3469-3471)TAC>TAA	p.Y1157*	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Y1128*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y1157*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y1033*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y1031*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y1157*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1157					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCTCCAGTGTAATCTCTCT	0.448		NA											27	111					1.74e-06	3.62e-06	1	0
SDC1	6382	broad.mit.edu	37	2	20402571	20402571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:20402571C>A	uc002rdo.1	-	5	1188	c.889G>T	c.(889-891)GGG>TGG	p.G297W	SDC1_uc002rdp.1_Missense_Mutation_p.G297W|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	297	Cytoplasmic (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTAGGCCCCGCCGTTGGCT	0.602		NA											7	253					0.00198382	0.00355328	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469921	25469921	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:25469921T>A	uc002rgc.2	-	9	1378	c.1121A>T	c.(1120-1122)CAG>CTG	p.Q374L	DNMT3A_uc002rgd.2_Missense_Mutation_p.Q374L|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q185L	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	374	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACTCACCTGCAGGACCTC	0.602		NA	Mis|F|N|S		AML								6	31					0	0	0	0
GPR75	10936	broad.mit.edu	37	2	54081598	54081598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:54081598G>A	uc002rxo.3	-	2	567	c.296C>T	c.(295-297)CCC>CTC	p.P99L	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	99	Helical; Name=2; (Potential).|Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGAACATGGGGGCTGTCAC	0.458		NA											7	95					0	0	0	0
PLEK	5341	broad.mit.edu	37	2	68613641	68613641	+	Silent	SNP	C	C	T	rs151222226		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:68613641C>T	uc002sen.3	+	5	642	c.480C>T	c.(478-480)TGC>TGT	p.C160C	PLEK_uc010fde.2_Silent_p.C160C	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	160	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGGTAACTGCGTCATTGATT	0.532		NA											11	36					0	0	0	0
C2orf78	388960	broad.mit.edu	37	2	74043891	74043891	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:74043891C>A	uc002sjr.1	+	3	2662	c.2541C>A	c.(2539-2541)ATC>ATA	p.I847I		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	847										ovary(2)	2						AATTTCTAATCCAAGACTTCA	0.527		NA											20	79					0.000132079	0.000252077	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746278	77746278	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:77746278G>T	uc002snr.2	-	3	1132	c.717C>A	c.(715-717)AAC>AAA	p.N239K	LRRTM4_uc002snq.2_Missense_Mutation_p.N239K|LRRTM4_uc002sns.2_Missense_Mutation_p.N239K|LRRTM4_uc002snt.2_Missense_Mutation_p.N240K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	239	LRR 8.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		AGCGAATCCTGTTCCATTGTA	0.448		NA											3	20					0.004672	0.00828519	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101253	80101253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80101253C>G	uc010ysh.1	+	5	642	c.637C>G	c.(637-639)CTG>GTG	p.L213V	CTNNA2_uc010yse.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysf.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysg.1_Missense_Mutation_p.L213V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	213					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CCGAGGGGCTCTGAAGAAGAA	0.517		NA											13	35					0	0	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529767	80529767	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80529767G>T	uc002sok.1	-	2	1448	c.1178C>A	c.(1177-1179)ACG>AAG	p.T393K	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	393	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCCGCGAGCGTGGTGGCCGA	0.716		NA								HNSCC(69;0.2)			11	32					1.58e-08	3.46e-08	1	0
SLC9A2	6549	broad.mit.edu	37	2	103324786	103324786	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:103324786G>C	uc002tca.2	+	12	2419	c.2277G>C	c.(2275-2277)ACG>ACC	p.T759T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	759	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GCACCCAGACGTCAGGCTTAC	0.552		NA											33	75					0	0	0	0
CCDC138	165055	broad.mit.edu	37	2	109405345	109405345	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:109405345A>T	uc002ten.1	+	3	249	c.189A>T	c.(187-189)TCA>TCT	p.S63S	CCDC138_uc002teo.1_Silent_p.S63S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	63											0						AAGTTGGTTCATCGTTAAAAT	0.358		NA											18	39					0	0	0	0
BUB1	699	broad.mit.edu	37	2	111417591	111417591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:111417591C>T	uc002tgc.2	-	11	1352	c.1240G>A	c.(1240-1242)GAA>AAA	p.E414K	BUB1_uc010yxh.1_Missense_Mutation_p.E394K|BUB1_uc010fkb.2_Missense_Mutation_p.E414K	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	414					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTTGAATTCATGAGTACTC	0.308		NA											5	21					0	0	0	0
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	T	rs146251151		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:116497460G>T	uc002tla.1	+	9	1300	c.843G>T	c.(841-843)CCG>CCT	p.P281P	DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	281	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						AGCAGTATCCGTATCCTAAGG	0.423		NA											12	47					7.04e-09	1.55e-08	1	0
INHBB	3625	broad.mit.edu	37	2	121107420	121107420	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:121107420C>A	uc002tmn.2	+	2	1240	c.1194C>A	c.(1192-1194)AAC>AAA	p.N398K		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	398					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				ACGTGCCCAACATGATTGTGG	0.632		NA											3	19					2.56e-06	5.25e-06	1	0
LRP1B	53353	broad.mit.edu	37	2	141299381	141299381	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:141299381C>T	uc002tvj.1	-	44	8326	c.7354G>A	c.(7354-7356)GGA>AGA	p.G2452R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2452	Extracellular (Potential).|LDL-receptor class B 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTATGATTCCCATTGGCTGA	0.378		NA								TSP Lung(27;0.18)			15	57					0	0	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555719	155555719	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:155555719C>A	uc002tyv.1	+	1	627	c.432C>A	c.(430-432)ATC>ATA	p.I144I	KCNJ3_uc010zce.1_Silent_p.I144I	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	144	Selectivity filter (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	AGGCCACCATCGGCTATGGCT	0.557		NA											8	35					1.13e-05	2.25e-05	1	0
ACVR1C	130399	broad.mit.edu	37	2	158406691	158406691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:158406691A>G	uc002tzk.3	-	4	1001	c.758T>C	c.(757-759)ATT>ACT	p.I253T	ACVR1C_uc002tzl.3_Missense_Mutation_p.I173T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I203T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	253	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GTCAGCAGCAATGAAACCAAG	0.388		NA											18	34					0	0	0	0
SLC38A11	151258	broad.mit.edu	37	2	165768172	165768172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:165768172G>T	uc002ucv.1	-	11	1306	c.769C>A	c.(769-771)CCT>ACT	p.P257T	SLC38A11_uc002ucu.1_Missense_Mutation_p.P235T|SLC38A11_uc002ucw.1_Missense_Mutation_p.P257T	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	257	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						CATTCCATAGGGTATGTCAAA	0.378		NA											4	20					0.00024832	0.000464718	1	0
TTN	7273	broad.mit.edu	37	2	179613245	179613245	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179613245G>T	uc002unb.2	-	46	14106	c.13882C>A	c.(13882-13884)CCA>ACA	p.P4628T	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			TCCAGAGCTGGATCTCCTATA	0.378		NA											21	71					8.05e-18	1.93e-17	1	0
TTN	7273	broad.mit.edu	37	2	179633515	179633515	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179633515C>T	uc010zfg.1	-	38	9272	c.9048G>A	c.(9046-9048)ATG>ATA	p.M3016I	TTN_uc010zfh.1_Missense_Mutation_p.M2970I|TTN_uc010zfi.1_Missense_Mutation_p.M2970I|TTN_uc010zfj.1_Missense_Mutation_p.M2970I|TTN_uc002unb.2_Missense_Mutation_p.M3016I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3016							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)			TTTTGGTTCTCATCTGGCACT	0.418		NA											15	35					0	0	0	0
COL5A2	1290	broad.mit.edu	37	2	189907465	189907465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:189907465G>A	uc002uqk.2	-	49	3781	c.3506C>T	c.(3505-3507)CCT>CTT	p.P1169L	COL5A2_uc010frx.2_Missense_Mutation_p.P745L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1169					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAATGGTCCAGGGATTCCAGC	0.373		NA											4	10					0	0	0	0
STAT4	6775	broad.mit.edu	37	2	191940969	191940969	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:191940969G>T	uc002usm.1	-	4	610	c.356C>A	c.(355-357)GCC>GAC	p.A119D	STAT4_uc002usn.1_Missense_Mutation_p.A119D|STAT4_uc002uso.2_Missense_Mutation_p.A119D|STAT4_uc002usp.3_Missense_Mutation_p.A119D	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	119					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGCATGTTGGCTGCAGCCAA	0.284		NA											11	59					1.09e-07	2.32e-07	1	0
STK17B	9262	broad.mit.edu	37	2	197021180	197021180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:197021180G>C	uc002utk.2	-	3	642	c.318C>G	c.(316-318)ATC>ATG	p.I106M	STK17B_uc010fsh.2_Missense_Mutation_p.I106M	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	106	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATATCAAAATGATTTCACTTG	0.313		NA											6	11					0	0	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279531	217279531	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:217279531G>A	uc002vgc.3	+	3	434	c.104G>A	c.(103-105)AGG>AAG	p.R35K	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R35K|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R35K	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	35					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCATCAGAGGACTAGCTCG	0.522		NA							Schimke_Immuno-Osseous_Dysplasia				30	94					0	0	0	0
COL4A4	1286	broad.mit.edu	37	2	227924220	227924220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:227924220G>T	uc010zlt.1	-	28	2938	c.2284C>A	c.(2284-2286)CCT>ACT	p.P762T		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	762	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAAATGCAGGGTCTCCCGGG	0.612		NA											24	70					2.89e-11	6.59e-11	1	0
PLCB1	23236	broad.mit.edu	37	20	8637904	8637904	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr20:8637904C>A	uc002wnb.2	+	8	671	c.668C>A	c.(667-669)CCT>CAT	p.P223H	PLCB1_uc010zrb.1_Missense_Mutation_p.P122H|PLCB1_uc002wna.2_Missense_Mutation_p.P223H|PLCB1_uc002wnc.1_Missense_Mutation_p.P122H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	223					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGCCCTCGACCTGAAATTGAT	0.393		NA											10	71					4.69e-08	1.01e-07	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812833	31812833	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr21:31812833C>A	uc002yod.2	+	1	188	c.188C>A	c.(187-189)ACA>AAA	p.T63K		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	63						intermediate filament					0						AGCTGCCAGACATCCTGCACT	0.512		NA											15	59					7.93e-07	1.66e-06	1	0
OR11H1	81061	broad.mit.edu	37	22	16449678	16449678	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:16449678A>T	uc011agd.1	-	1	127	c.127T>A	c.(127-129)TTC>ATC	p.F43I		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	43	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGAGTGAGAAGAGGAAGATC	0.423		NA											8	146					0	0	0	0
PPM1F	9647	broad.mit.edu	37	22	22285593	22285593	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:22285593C>A	uc002zvp.1	-	6	932	c.818G>T	c.(817-819)GGG>GTG	p.G273V	PPM1F_uc011aik.1_Missense_Mutation_p.G169V|PPM1F_uc002zvq.2_Missense_Mutation_p.G273V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	273					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGAATCCCCGAGCCAGGC	0.542		NA											21	52					1.98e-07	4.23e-07	1	0
CNTN6	27255	broad.mit.edu	37	3	1269678	1269678	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:1269678G>T	uc003boz.2	+	4	625	c.358_splice	c.e4+1	p.Y120_splice	CNTN6_uc010hbo.2_Splice_Site_p.Y115_splice|CNTN6_uc011asj.1_Splice_Site_p.Y48_splice|CNTN6_uc003bpa.2_Splice_Site_p.Y120_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAATTTGCATGTGAGTTTGGG	0.383		NA											28	95					7.63e-27	1.88e-26	1	0
LRRN1	57633	broad.mit.edu	37	3	3888298	3888298	+	Missense_Mutation	SNP	G	G	A	rs75344244		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:3888298G>A	uc003bpt.3	+	2	2734	c.1973G>A	c.(1972-1974)AGA>AAA	p.R658K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	658	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTAAGAGAAAAAACTAC	0.423		NA											19	60					0	0	0	0
ARPC4	10093	broad.mit.edu	37	3	9841894	9841894	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:9841894C>T	uc003bsz.1	+	3	727	c.148C>T	c.(148-150)CCT>TCT	p.P50S	ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR	NM_005718	NP_005709	P59998	ARPC4_HUMAN	actin related protein 2/3 complex subunit 4	50					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					CCTGTTACAACCTGTGACCAT	0.478		NA											11	44					0	0	0	0
STAC	6769	broad.mit.edu	37	3	36570191	36570191	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:36570191A>T	uc003cgh.1	+	9	963	c.924A>T	c.(922-924)CCA>CCT	p.P308P	STAC_uc011aya.1_Silent_p.P247P	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	308	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						ATTTTAGGCCAGGAGACATAA	0.294		NA											5	14					0	0	0	0
XIRP1	165904	broad.mit.edu	37	3	39229057	39229057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:39229057G>T	uc003cjk.1	-	2	2101	c.1880C>A	c.(1879-1881)ACC>AAC	p.T627N	XIRP1_uc003cji.2_Missense_Mutation_p.T627N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	627	Interaction with CTNNB1 (By similarity).|Xin 14.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAACATCCAGGTGCAGGACTG	0.597		NA											24	49					2.89e-11	6.59e-11	1	0
ULK4	54986	broad.mit.edu	37	3	41497085	41497085	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:41497085G>A	uc003ckv.3	-	34	3596	c.3395C>T	c.(3394-3396)GCC>GTC	p.A1132V		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1132							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACTTCTGGGCCTGGAACAG	0.542		NA											20	30					0	0	0	0
ZNF502	91392	broad.mit.edu	37	3	44762622	44762622	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:44762622G>A	uc011baa.1	+	4	568	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ZNF502_uc003cns.2_Missense_Mutation_p.E105K|ZNF502_uc011bab.1_Missense_Mutation_p.E105K|ZNF502_uc003cnt.2_Missense_Mutation_p.E105K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATATAATTTTGAGAAAAGCTT	0.398		NA											9	41					0	0	0	0
RTP3	83597	broad.mit.edu	37	3	46542079	46542079	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:46542079G>A	uc003cps.1	+	2	457	c.389G>A	c.(388-390)AGA>AAA	p.R130K		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	130	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TATAGAGGAAGATTTCAGTTG	0.463		NA											13	93					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53796040	53796040	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:53796040G>T	uc003dgv.3	+	30	3965	c.3802G>T	c.(3802-3804)GCC>TCC	p.A1268S	CACNA1D_uc003dgu.3_Missense_Mutation_p.A1288S|CACNA1D_uc003dgy.3_Missense_Mutation_p.A1268S|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc003dgx.1_Missense_Mutation_p.A416S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1268	IV.|Helical; Name=S3 of repeat IV; (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTTAGTGACGCCTGGAACAC	0.562		NA											20	54					3.62e-10	8.19e-10	1	0
CADM2	253559	broad.mit.edu	37	3	85932571	85932571	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:85932571C>G	uc003dqj.2	+	3	968	c.342C>G	c.(340-342)TCC>TCG	p.S114S	CADM2_uc003dqk.2_Silent_p.S123S|CADM2_uc003dql.2_Silent_p.S116S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	114	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCAAAACTTCCAAGGCATATC	0.398		NA											3	17					0	0	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806802	97806802	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:97806802G>T	uc011bgs.1	+	1	786	c.786G>T	c.(784-786)GTG>GTT	p.V262V		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCATGTATGTGCGTCCTGCAT	0.428		NA											15	57					2.23e-06	4.61e-06	1	0
GPR128	84873	broad.mit.edu	37	3	100365491	100365491	+	Missense_Mutation	SNP	G	G	T	rs143826267	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:100365491G>T	uc003duc.2	+	10	1457	c.1189G>T	c.(1189-1191)GGC>TGC	p.G397C	GPR128_uc011bhc.1_Missense_Mutation_p.G98C	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	397	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						GGACACATATGGCTGTCAAAA	0.393		NA											6	40					1.07e-07	2.3e-07	1	0
DZIP3	9666	broad.mit.edu	37	3	108373010	108373010	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:108373010G>T	uc003dxd.2	+	19	2474	c.2052G>T	c.(2050-2052)AAG>AAT	p.K684N	DZIP3_uc003dxf.1_Missense_Mutation_p.K684N|DZIP3_uc011bhm.1_Missense_Mutation_p.K135N|DZIP3_uc003dxg.1_Missense_Mutation_p.K407N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	684					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGGTAGAAAAGGAAGAGCAGT	0.363		NA											21	25					2.71e-06	5.55e-06	1	0
CCDC52	152185	broad.mit.edu	37	3	113172677	113172677	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:113172677G>C	uc003eag.3	-	14	2069	c.1778C>G	c.(1777-1779)TCA>TGA	p.S593*	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.S489*	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	593					cell division|mitosis	centriole|spindle	protein binding				0						CTCTTCACTTGAATTCTGAAT	0.428		NA											41	32					0	0	0	0
PTPLB	201562	broad.mit.edu	37	3	123247241	123247241	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:123247241C>A	uc003egj.2	-	4	423	c.373G>T	c.(373-375)GTC>TTC	p.V125F		NM_198402	NP_940684	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline	125	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.1)		ACCTCTTTGACGCTATGTGTT	0.358		NA											18	37					1.68e-08	3.66e-08	1	0
PLXNA1	5361	broad.mit.edu	37	3	126707921	126707921	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:126707921G>A	uc003ejg.2	+	1	420	c.416G>A	c.(415-417)AGC>AAC	p.S139N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	162	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TACCTGTCCAGCGTGCAGGAG	0.657		NA											4	32					0	0	0	0
PIK3R4	30849	broad.mit.edu	37	3	130403120	130403120	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:130403120G>A	uc003enj.2	-	16	4162	c.3581C>T	c.(3580-3582)CCT>CTT	p.P1194L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1194	WD 5.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CTGATACAGAGGGTGCATTGA	0.483		NA											8	57					0	0	0	0
EPHB1	2047	broad.mit.edu	37	3	134670706	134670706	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:134670706T>C	uc003eqt.2	+	3	837	c.617T>C	c.(616-618)TTT>TCT	p.F206S	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	206	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TTTGCAGTGTTTCCAGAGACT	0.483		NA											40	244					0	0	0	0
TMEM22	80723	broad.mit.edu	37	3	136573436	136573436	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:136573436A>G	uc003erf.3	+	2	348	c.134A>G	c.(133-135)TAT>TGT	p.Y45C	TMEM22_uc003erg.3_Missense_Mutation_p.Y45C|TMEM22_uc010hub.2_Missense_Mutation_p.Y45C	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	45						Golgi apparatus|integral to membrane				ovary(1)	1						AATGAAGGCTATGGAAATTTT	0.398		NA											44	275					0	0	0	0
DZIP1L	199221	broad.mit.edu	37	3	137796423	137796423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:137796423C>T	uc003erq.2	-	11	1703	c.1340G>A	c.(1339-1341)CGT>CAT	p.R447H	DZIP1L_uc003err.1_Missense_Mutation_p.R447H	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	447						intracellular	zinc ion binding	p.R447P(1)		ovary(1)|pancreas(1)	2						AGTGGGGTTACGCCTCAGAGC	0.547		NA											28	162					0	0	0	0
C3orf72	401089	broad.mit.edu	37	3	138669186	138669186	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138669186C>A	uc003esx.1	+	3	431	c.300C>A	c.(298-300)CGC>CGA	p.R100R	C3orf72_uc011bmr.1_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	100											0						GGAAGCGTCGCGGCTGCTCTG	0.687		NA											22	42					2.89e-11	6.59e-11	1	0
C3orf58	205428	broad.mit.edu	37	3	143691744	143691744	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:143691744C>T	uc003evo.2	+	1	1105	c.570C>T	c.(568-570)GGC>GGT	p.G190G	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	190						COPI vesicle coat|extracellular region				ovary(1)	1						AGGACTCGGGCAGCTTCCTGC	0.697		NA											7	13					0	0	0	0
ZIC1	7545	broad.mit.edu	37	3	147128596	147128596	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:147128596G>A	uc003ewe.2	+	1	1416	c.697G>A	c.(697-699)GAG>AAG	p.E233K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	233	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GATCGAGCCCGAGCAGCTGGC	0.592		NA											9	48					0	0	0	0
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:164732915G>T	uc003fei.2	-	33	4057	c.3995C>A	c.(3994-3996)GCA>GAA	p.A1332E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1332	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323		NA								HNSCC(35;0.089)			5	51					0.000602214	0.00109749	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	44					0	0	0	0
VPS8	23355	broad.mit.edu	37	3	184711810	184711810	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:184711810G>A	uc003fpb.1	+	42	3790	c.3619G>A	c.(3619-3621)GGA>AGA	p.G1207R	VPS8_uc010hyd.1_Missense_Mutation_p.G1117R|VPS8_uc010hye.1_Missense_Mutation_p.G636R	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1209							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAAATCCAGGGACTTATCTT	0.294		NA											3	7					0	0	0	0
MASP1	5648	broad.mit.edu	37	3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:186974553T>C	uc003frh.1	-	5	975	c.643A>G	c.(643-645)ACC>GCC	p.T215A	MASP1_uc003fri.2_Missense_Mutation_p.T215A|MASP1_uc003frj.2_Missense_Mutation_p.T184A|MASP1_uc003frk.1_Missense_Mutation_p.T215A|MASP1_uc011bse.1_Missense_Mutation_p.T189A	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	215	Interaction with FCN2.|CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512		NA											10	95					0	0	0	0
FGF12	2257	broad.mit.edu	37	3	192078262	192078262	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:192078262G>T	uc003fsx.2	-	2	1091	c.265C>A	c.(265-267)CCA>ACA	p.P89T	FGF12_uc003fsy.2_Missense_Mutation_p.P27T	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	89					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACCATCTGGGTGCATCTGC	0.408		NA											22	68					4.27e-12	9.88e-12	1	0
GBA3	57733	broad.mit.edu	37	4	22749401	22749401	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:22749401C>A	uc003gqp.3	+	3	860	c.769C>A	c.(769-771)CCC>ACC	p.P257T	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P258T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	257					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						ATTTGCTAAACCCATATTCAT	0.448		NA											18	68					3.53e-06	7.18e-06	1	0
N4BP2	55728	broad.mit.edu	37	4	40115063	40115063	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:40115063C>A	uc003guy.3	+	7	1937	c.1599C>A	c.(1597-1599)CAC>CAA	p.H533Q	N4BP2_uc010ifq.2_Missense_Mutation_p.H453Q|N4BP2_uc010ifr.2_Missense_Mutation_p.H453Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	533						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CTCAGAAACACAAATATAAAG	0.313		NA											25	97					0.000375601	0.00069667	1	0
GUF1	60558	broad.mit.edu	37	4	44680736	44680736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:44680736G>A	uc003gww.3	+	1	304	c.97G>A	c.(97-99)GCG>ACG	p.A33T	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	33					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						GCCCCGGTCCGCGCCGACCCT	0.692		NA											5	24					0	0	0	0
GABRA2	2555	broad.mit.edu	37	4	46314582	46314582	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:46314582G>A	uc003gxc.3	-	4	1080	c.407C>T	c.(406-408)GCT>GTT	p.A136V	GABRA2_uc010igc.2_Missense_Mutation_p.A136V|GABRA2_uc011bzc.1_Missense_Mutation_p.A81V|GABRA2_uc003gxe.2_Missense_Mutation_p.A136V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	136	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATATTATGAGCTACTGATTT	0.343		NA											11	69					0	0	0	0
NFXL1	152518	broad.mit.edu	37	4	47857090	47857090	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:47857090T>A	uc010igh.2	-	20	2584	c.2407A>T	c.(2407-2409)AAA>TAA	p.K803*	NFXL1_uc003gxo.2_Nonsense_Mutation_p.K128*|NFXL1_uc003gxp.2_Nonsense_Mutation_p.K803*|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Nonsense_Mutation_p.K803*	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	803						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TTTATTCTTTTACAAGGACAT	0.234		NA											15	51					0	0	0	0
USP46	64854	broad.mit.edu	37	4	53492412	53492412	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:53492412G>C	uc003gzn.2	-	4	519	c.334C>G	c.(334-336)CTC>GTC	p.L112V	USP46_uc003gzm.3_Missense_Mutation_p.L105V|USP46_uc011bzr.1_Missense_Mutation_p.L89V|USP46_uc011bzs.1_Translation_Start_Site	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	112					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTATCAAAGAGATCTGGAAAG	0.333		NA											6	26					0	0	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956626	73956626	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:73956626G>A	uc003hgp.2	-	29	6836	c.6719C>T	c.(6718-6720)CCT>CTT	p.P2240L	ANKRD17_uc003hgo.2_Missense_Mutation_p.P2127L|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1989L|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2239L	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2240					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAGCAATAGGCTTATTTGC	0.458		NA											49	224					0	0	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169444	90169444	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:90169444G>T	uc003hsm.1	-	2	2337	c.1818C>A	c.(1816-1818)AGC>AGA	p.S606R		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	606										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGATGGCAGGCTCAGGCTGG	0.582		NA											31	100					1.08e-15	2.57e-15	1	0
GSTCD	79807	broad.mit.edu	37	4	106744222	106744222	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:106744222G>A	uc003hxz.3	+	6	1424	c.1352G>A	c.(1351-1353)GGT>GAT	p.G451D	GSTCD_uc003hxx.2_Missense_Mutation_p.G451D|GSTCD_uc003hxy.3_Missense_Mutation_p.G364D|GSTCD_uc011cfb.1_Missense_Mutation_p.G74D	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	451						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCTGCAGCGGTGGGGTATTT	0.383		NA											25	75					0	0	0	0
ANK2	287	broad.mit.edu	37	4	114284553	114284553	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:114284553C>A	uc003ibe.3	+	40	10916	c.10816C>A	c.(10816-10818)CCC>ACC	p.P3606T	ANK2_uc003ibd.3_Missense_Mutation_p.P1512T|ANK2_uc003ibf.3_Missense_Mutation_p.P1521T|ANK2_uc011cgc.1_Missense_Mutation_p.P697T|ANK2_uc003ibg.3_Missense_Mutation_p.P505T|ANK2_uc003ibh.3_Missense_Mutation_p.P195T|ANK2_uc011cgd.1_Missense_Mutation_p.P908T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3573	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTGAAAATCCCAACTCTCT	0.383		NA											11	42					1.59e-06	3.31e-06	1	0
ANP32C	23520	broad.mit.edu	37	4	165118530	165118530	+	Nonsense_Mutation	SNP	T	T	A	rs138319123		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:165118530T>A	uc011cjk.1	-	1	334	c.334A>T	c.(334-336)AAG>TAG	p.K112*	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	112	LRR 4.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TCTAAGCTCTTGAGGTTTTCT	0.418		NA											34	92					0	0	0	0
WDR17	116966	broad.mit.edu	37	4	177098210	177098210	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:177098210C>A	uc003iuj.2	+	29	3724	c.3568C>A	c.(3568-3570)CAG>AAG	p.Q1190K	WDR17_uc003iuk.2_Missense_Mutation_p.Q1166K|WDR17_uc003ium.3_Missense_Mutation_p.Q1151K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q401K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1190										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CACGTTCAGTCAGCTATTAAA	0.348		NA											8	29					5.49e-09	1.21e-08	1	0
ENPP6	133121	broad.mit.edu	37	4	185018464	185018464	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:185018464G>T	uc003iwc.2	-	7	1193	c.1051C>A	c.(1051-1053)CGT>AGT	p.R351S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	351	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGCCATCCACGCTGCCAACCT	0.577		NA											8	33					3.1e-07	6.59e-07	1	0
6-Mar	10299	broad.mit.edu	37	5	10415698	10415698	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:10415698A>G	uc003jet.1	+	21	2248	c.2065A>G	c.(2065-2067)ATA>GTA	p.I689V	MARCH6_uc011cmu.1_Missense_Mutation_p.I641V|MARCH6_uc003jeu.1_Missense_Mutation_p.I387V|MARCH6_uc011cmv.1_Missense_Mutation_p.I584V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	689	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						CTGGCTAACCATAAGGGCTGT	0.493		NA											35	95					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13719206	13719206	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:13719206C>T	uc003jfd.2	-	72	12326	c.12284G>A	c.(12283-12285)GGA>GAA	p.G4095E	DNAH5_uc003jfc.2_Missense_Mutation_p.G263E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4095	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAGTGCCCATCCTCCCTGTCA	0.363		NA							Kartagener_syndrome				10	33					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24511453	24511453	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:24511453T>G	uc003jgr.1	-	6	1317	c.985A>C	c.(985-987)ATC>CTC	p.I329L	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	329	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGTGATGATGCCTTCCTGT	0.413		NA								HNSCC(23;0.051)			17	148					0	0	0	0
NPR3	4883	broad.mit.edu	37	5	32774814	32774814	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:32774814G>T	uc003jhv.2	+	4	1278	c.1060G>T	c.(1060-1062)GTT>TTT	p.V354F	NPR3_uc010iuo.2_Missense_Mutation_p.V138F|NPR3_uc011cnz.1_Missense_Mutation_p.V138F|NPR3_uc003jhu.2_Missense_Mutation_p.V354F	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	354	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	TTCTTTTCAGGTTAACATGTT	0.443		NA											39	202					1.31e-17	3.14e-17	1	0
EGFLAM	133584	broad.mit.edu	37	5	38427226	38427226	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427226G>T	uc003jlc.1	+	14	2250	c.1926G>T	c.(1924-1926)CGG>CGT	p.R642R	EGFLAM_uc003jlb.1_Silent_p.R642R|EGFLAM_uc003jle.1_Silent_p.R408R|EGFLAM_uc003jlf.1_Silent_p.R8R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	642	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TCACATTTCGGCCAGACTCAG	0.527		NA											30	169					2.44e-19	5.9e-19	1	0
EGFLAM	133584	broad.mit.edu	37	5	38427334	38427334	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427334C>T	uc003jlc.1	+	14	2358	c.2034C>T	c.(2032-2034)GGC>GGT	p.G678G	EGFLAM_uc003jlb.1_Silent_p.G678G|EGFLAM_uc003jle.1_Silent_p.G444G|EGFLAM_uc003jlf.1_Silent_p.G44G	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	678	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TTGACTGTGGCTCTGGGACCG	0.507		NA											27	230					0	0	0	0
SV2C	22987	broad.mit.edu	37	5	75428020	75428020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:75428020C>T	uc003kei.1	+	2	579	c.445C>T	c.(445-447)CGT>TGT	p.R149C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	149	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527		NA											23	80					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82786136	82786136	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:82786136A>T	uc003kii.3	+	3	646	c.290A>T	c.(289-291)TAC>TTC	p.Y97F	VCAN_uc003kij.3_Missense_Mutation_p.Y97F|VCAN_uc010jau.2_Missense_Mutation_p.Y97F|VCAN_uc003kik.3_Missense_Mutation_p.Y97F|VCAN_uc003kih.3_Missense_Mutation_p.Y97F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	97	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCAGGACTACAAAGGGAGA	0.483		NA											22	69					0	0	0	0
FTMT	94033	broad.mit.edu	37	5	121188322	121188322	+	Missense_Mutation	SNP	G	G	T	rs138610881	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:121188322G>T	uc003kss.2	+	1	673	c.664G>T	c.(664-666)GAT>TAT	p.D222Y		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	222					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGGGGCCCCGGATGCTGGCCT	0.507		NA											34	93					6.85e-11	1.56e-10	1	0
ISOC1	51015	broad.mit.edu	37	5	128430682	128430682	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:128430682G>A	uc003kva.2	+	1	241	c.223G>A	c.(223-225)GAG>AAG	p.E75K		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	75						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCTGTTCGCCGAGGAGTGGGG	0.652		NA											5	16					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530921	140530921	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140530921C>A	uc003lir.2	+	1	1083	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	PCDHB6_uc011dah.1_Silent_p.I225I	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	361	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAGAGATCACAGTGGCAG	0.453		NA											14	40					1.58e-08	3.46e-08	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558046	140558046	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140558046C>G	uc011dai.1	+	1	617	c.431C>G	c.(430-432)TCA>TGA	p.S144*	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	144	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAAGTATCAGAGAGCAGT	0.423		NA											13	49					0	0	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768028	140768028	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140768028G>A	uc003lkc.1	+	1	577	c.577G>A	c.(577-579)GAG>AAG	p.E193K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E193K	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	193	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATACCCTGAGATGGTATT	0.443		NA											16	55					0	0	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142292826	142292826	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:142292826G>T	uc011dbj.1	+	10	1031	c.996G>T	c.(994-996)AAG>AAT	p.K332N	ARHGAP26_uc003lmt.2_Missense_Mutation_p.K332N|ARHGAP26_uc003lmw.2_Missense_Mutation_p.K332N	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	332	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGAGAAGAGGTTTTGCT	0.428		NA											15	55					1.52e-12	3.55e-12	1	0
SGCD	6444	broad.mit.edu	37	5	156186321	156186321	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:156186321G>C	uc003lwd.3	+	8	1266	c.790G>C	c.(790-792)GTC>CTC	p.V264L	SGCD_uc003lwc.3_Missense_Mutation_p.V265L	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	264	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGAGATCTGCGTCTGCGCCAA	0.488		NA											23	77					0	0	0	0
DOCK2	1794	broad.mit.edu	37	5	169468122	169468122	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:169468122G>C	uc003maf.2	+	37	3809	c.3729G>C	c.(3727-3729)ACG>ACC	p.T1243T	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T735T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCTACACGCTCCTTCTCC	0.502		NA											3	23					0	0	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770999	178770999	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:178770999G>T	uc003mjw.2	-	2	303	c.303C>A	c.(301-303)AAC>AAA	p.N101K	ADAMTS2_uc011dgm.1_Missense_Mutation_p.N101K	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCTCCTCCTCGTTGCCTCCGG	0.711		NA											18	31					4.97e-08	1.07e-07	1	0
MAPK9	5601	broad.mit.edu	37	5	179666940	179666940	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:179666940T>C	uc003mls.3	-	10	1315	c.1044A>G	c.(1042-1044)GCA>GCG	p.A348A	MAPK9_uc003mlt.3_Silent_p.A348A|MAPK9_uc010jlc.2_Silent_p.A348A|MAPK9_uc003mlv.3_Silent_p.A348A	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	348					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTCAATTGCATGTTCTC	0.348		NA											13	23					0	0	0	0
FLT4	2324	broad.mit.edu	37	5	180043408	180043408	+	Silent	SNP	G	G	T	rs68096331		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:180043408G>T	uc003mma.3	-	23	3257	c.3178C>A	c.(3178-3180)CGG>AGG	p.R1060R	FLT4_uc003mlz.3_Silent_p.R1060R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1060	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGATGTCCCGGGCAAGGCCA	0.617		NA							Congenital_Hereditary_Lymphedema				12	48					3.07e-06	6.26e-06	1	0
MBOAT1	154141	broad.mit.edu	37	6	20102580	20102580	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:20102580T>C	uc003ncx.1	-	13	1630	c.1425A>G	c.(1423-1425)CCA>CCG	p.P475P	MBOAT1_uc011dji.1_Silent_p.P326P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	475					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATGAGCTTGTGGTTTCATTG	0.353		NA											11	46					0	0	0	0
OR5V1	81696	broad.mit.edu	37	6	29323758	29323758	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29323758C>A	uc011dlo.1	-	1	297	c.215G>T	c.(214-216)TGC>TTC	p.C72F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						GGTGGTGTAGCAGATGTCAAT	0.408		NA											25	78					1.16e-09	2.59e-09	1	0
ZFP57	346171	broad.mit.edu	37	6	29641451	29641451	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29641451C>G	uc011dlw.1	-	4	588	c.437G>C	c.(436-438)AGA>ACA	p.R146T	ZFP57_uc003nnl.3_Missense_Mutation_p.R126T	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GCCGGCCCCTCTGCATGCAAG	0.557		NA											25	84					0	0	0	0
KCNK16	83795	broad.mit.edu	37	6	39290287	39290287	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:39290287C>A	uc003ooq.2	-	1	44	c.30G>T	c.(28-30)TGG>TGT	p.W10C	KCNK16_uc003oor.3_Missense_Mutation_p.W10C|KCNK16_uc010jwy.2_Missense_Mutation_p.W10C|KCNK16_uc011dtz.1_Missense_Mutation_p.W10C	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	10	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						CCCGGCCACCCCAGCAGCTGC	0.657		NA											9	6					2.18e-05	4.3e-05	1	0
VEGFA	7422	broad.mit.edu	37	6	43749750	43749750	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:43749750G>A	uc003owh.2	+	7	1634	c.1143G>A	c.(1141-1143)ACG>ACA	p.T381T	VEGFA_uc003owd.2_Silent_p.T340T|VEGFA_uc003owf.2_Silent_p.T364T|VEGFA_uc003owe.2_Silent_p.T340T|VEGFA_uc003owg.2_Silent_p.T358T|VEGFA_uc003owi.2_Silent_p.T340T|VEGFA_uc003owj.2_Intron|VEGFA_uc010jyx.2_Intron|VEGFA_uc003owk.2_Intron	NM_001025366	NP_001020537	P15692	VEGFA_HUMAN	vascular endothelial growth factor A isoform a	201					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			ovary(1)|breast(1)	2	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	ATCCGCAGACGTGTAAATGTT	0.493		NA											6	28					0	0	0	0
ENPP4	22875	broad.mit.edu	37	6	46107690	46107690	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:46107690C>G	uc003oxy.2	+	2	629	c.370C>G	c.(370-372)CAG>GAG	p.Q124E		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	124	Extracellular (Potential).					integral to membrane	hydrolase activity			ovary(3)|skin(1)	4						GGTGACCAATCAGCTTCAGGA	0.413		NA											19	69					0	0	0	0
DST	667	broad.mit.edu	37	6	56371281	56371281	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:56371281T>A	uc003pdf.2	-	71	13095	c.13067A>T	c.(13066-13068)GAG>GTG	p.E4356V	DST_uc003pcz.3_Missense_Mutation_p.E4178V|DST_uc011dxj.1_Missense_Mutation_p.E4207V|DST_uc011dxk.1_Missense_Mutation_p.E4218V|DST_uc003pcy.3_Missense_Mutation_p.E3852V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6264	Spectrin 13.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCATTGCCTCCTCAAGTTT	0.418		NA											5	32					0	0	0	0
IMPG1	3617	broad.mit.edu	37	6	76728538	76728538	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:76728538C>A	uc003pik.1	-	7	834	c.704G>T	c.(703-705)AGG>ATG	p.R235M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	235	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGCTCCACCCTCTGCTCCTC	0.433		NA											9	27					0.000274275	0.000509484	1	0
NUS1	116150	broad.mit.edu	37	6	118015291	118015291	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:118015291G>A	uc003pxw.2	+	3	856	c.639G>A	c.(637-639)CAG>CAA	p.Q213Q		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1	213	Cytoplasmic (Potential).				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)	1		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TAGTAGCCCAGAAGCAAAAGA	0.338		NA											5	73					0	0	0	0
C6orf170	221322	broad.mit.edu	37	6	121526220	121526220	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:121526220C>T	uc003pyo.1	-	22	2638	c.2570_splice	c.e22+1	p.R857_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Intron|C6orf170_uc003pyp.1_Splice_Site_p.R376_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322						multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TAGCATTTTACCTTAGACCAA	0.239		NA											15	36					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146480525	146480525	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:146480525G>T	uc010khw.1	+	3	1212	c.742G>T	c.(742-744)GCT>TCT	p.A248S	GRM1_uc010khu.1_Missense_Mutation_p.A248S|GRM1_uc010khv.1_Missense_Mutation_p.A248S|GRM1_uc003qll.2_Missense_Mutation_p.A248S|GRM1_uc011edz.1_Missense_Mutation_p.A248S|GRM1_uc011eea.1_Missense_Mutation_p.A248S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	248	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGCTGGCTGCCCAGGA	0.502		NA											17	55					2.35e-11	5.39e-11	1	0
TAB2	23118	broad.mit.edu	37	6	149719163	149719163	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:149719163G>A	uc003qmj.2	+	5	2001	c.1823G>A	c.(1822-1824)TGC>TAC	p.C608Y	TAB2_uc011eec.1_Missense_Mutation_p.C576Y|TAB2_uc003qmk.3_RNA|SUMO4_uc003qml.2_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	608	Potential.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GACATTGACTGCTTAACCAAA	0.353		NA											5	16					0	0	0	0
LPA	4018	broad.mit.edu	37	6	161015034	161015034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:161015034C>T	uc003qtl.2	-	23	3705	c.3585G>A	c.(3583-3585)ATG>ATA	p.M1195I		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3703	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGTGGTGTCATAGAGGACC	0.488		NA											14	63					0	0	0	0
CRHR2	1395	broad.mit.edu	37	7	30706892	30706892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:30706892C>T	uc003tbn.2	-	3	511	c.267G>A	c.(265-267)TGG>TGA	p.W89*	CRHR2_uc010kvw.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Nonsense_Mutation_p.W75*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.W116*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	89	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TCTTTGAGGCCCACGTCCCAT	0.532		NA											8	58					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81386541	81386541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:81386541C>T	uc003uhl.2	-	4	611	c.446G>A	c.(445-447)TGT>TAT	p.C149Y	HGF_uc003uhm.2_Missense_Mutation_p.C149Y|HGF_uc003uhn.1_Missense_Mutation_p.C149Y|HGF_uc003uho.1_Missense_Mutation_p.C149Y|HGF_uc003uhp.2_Missense_Mutation_p.C149Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	149	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CCAGGGCTGACATTTGATGCC	0.383		NA											16	34					0	0	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86569411	86569411	+	Silent	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86569411T>G	uc011kha.1	-	6	947	c.762A>C	c.(760-762)ACA>ACC	p.T254T	KIAA1324L_uc003uif.1_Silent_p.T14T|KIAA1324L_uc011kgz.1_Silent_p.T140T|KIAA1324L_uc003uie.2_Silent_p.T87T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	254	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					AGAGTATGTTTGTGCCTGATT	0.398		NA											12	43					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91694575	91694575	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:91694575A>G	uc003ulg.2	+	25	6233	c.6008A>G	c.(6007-6009)AAG>AGG	p.K2003R	AKAP9_uc003ulf.2_Missense_Mutation_p.K2003R|AKAP9_uc003uli.2_Missense_Mutation_p.K1626R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2015	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTAATGAAGGAAAAACTA	0.299		NA	T	BRAF	papillary thyroid								28	27					0	0	0	0
GJC3	349149	broad.mit.edu	37	7	99526840	99526840	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99526840C>A	uc011kjd.1	-	1	404	c.404G>T	c.(403-405)TGG>TTG	p.W135L		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	135	Helical; (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACATAAGCCCAGAGCAGCCT	0.617		NA											35	208					1.22e-08	2.67e-08	1	0
AZGP1	563	broad.mit.edu	37	7	99565930	99565930	+	Nonsense_Mutation	SNP	C	C	T	rs145427176		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99565930C>T	uc003ush.2	-	3	505	c.461G>A	c.(460-462)TGG>TAG	p.W154*		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	154					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.W154S(1)		ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAAGGGGACCCAGGCTGGGAT	0.507		NA											49	274					0	0	0	0
C7orf51	222950	broad.mit.edu	37	7	100086152	100086152	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:100086152G>A	uc003uvd.1	+	4	967	c.808G>A	c.(808-810)GAA>AAA	p.E270K	C7orf51_uc003uve.1_Missense_Mutation_p.E52K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	270										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCGCTGCCGGAAGAGGCTGG	0.687		NA											16	87					0	0	0	0
LRRN3	54674	broad.mit.edu	37	7	110763775	110763775	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:110763775C>T	uc003vft.3	+	4	1993	c.947C>T	c.(946-948)GCT>GTT	p.A316V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A316V|LRRN3_uc003vfs.3_Missense_Mutation_p.A316V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	316	Extracellular (Potential).|LRR 11.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAATAGAAGCTACTAACAAC	0.418		NA											19	42					0	0	0	0
C7orf60	154743	broad.mit.edu	37	7	112462106	112462106	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:112462106C>T	uc003vgo.1	-	5	1038	c.911G>A	c.(910-912)CGC>CAC	p.R304H	C7orf60_uc011kms.1_Missense_Mutation_p.R330H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	304										ovary(2)|skin(1)	3						GTACTTGAAGCGTTTAAAGCC	0.398		NA											15	39					0	0	0	0
POT1	25913	broad.mit.edu	37	7	124482972	124482972	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:124482972A>G	uc003vlm.2	-	13	1653	c.1052T>C	c.(1051-1053)ATT>ACT	p.I351T	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.I220T|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	351					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						TTGTTTCAAAATGGCACATAG	0.348		NA											5	32					0	0	0	0
OR2A25	392138	broad.mit.edu	37	7	143771537	143771537	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:143771537C>A	uc011ktx.1	+	1	225	c.225C>A	c.(223-225)AGC>AGA	p.S75R		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					GTGCTTGCAGCACGGTGCCCC	0.557		NA											37	44					3.63e-18	8.73e-18	1	0
SSPO	23145	broad.mit.edu	37	7	149481149	149481149	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:149481149C>G	uc010lpk.2	+	18	2631	c.2631C>G	c.(2629-2631)CCC>CCG	p.P877P	SSPO_uc010lpl.1_Silent_p.P212P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	877	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCCCCAGCTTGTGCC	0.657		NA											3	14					0	0	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174635	150174635	+	Missense_Mutation	SNP	C	C	T	rs139453539		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:150174635C>T	uc003whj.2	+	5	2095	c.1765C>T	c.(1765-1767)CGC>TGC	p.R589C		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589H(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCCCTTCGGCGCATTTTTAA	0.463		NA											16	83					0	0	0	0
HTR5A	3361	broad.mit.edu	37	7	154875975	154875975	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:154875975C>G	uc003wlu.1	+	2	916	c.852C>G	c.(850-852)GCC>GCG	p.A284A		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	284	Helical; Name=6; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCGGGCCGCCCTCATGGTGG	0.637		NA											24	45					0	0	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497072	1497072	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:1497072G>T	uc003wpl.2	+	2	310	c.213G>T	c.(211-213)GTG>GTT	p.V71V	DLGAP2_uc003wpm.2_Silent_p.V71V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	150					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCCGGTGGTGCTGGGCGACC	0.721		NA											4	18					1.24e-05	2.47e-05	1	0
ANGPT2	285	broad.mit.edu	37	8	6378820	6378820	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:6378820G>A	uc003wqj.3	-	4	1007	c.678C>T	c.(676-678)ATC>ATT	p.I226I	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.I226I|ANGPT2_uc010lri.2_Silent_p.I174I|ANGPT2_uc003wql.3_Silent_p.I226I	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	226	Potential.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCTTCAATGATGGAATTTT	0.373		NA											8	42					0	0	0	0
FAM160B2	64760	broad.mit.edu	37	8	21957263	21957263	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:21957263G>C	uc011kyx.1	+	10	1251	c.1200G>C	c.(1198-1200)CTG>CTC	p.L400L	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	400											0						CAGCCATGCTGCGCCAGCTTC	0.672		NA											11	38					0	0	0	0
ADAM7	8756	broad.mit.edu	37	8	24334017	24334017	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24334017G>A	uc003xeb.2	+	8	818	c.705G>A	c.(703-705)ATG>ATA	p.M235I	ADAM7_uc003xec.2_Missense_Mutation_p.M7I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	235	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGTCAACATGGTAAGATTTG	0.333		NA											6	19					0	0	0	0
ADAM7	8756	broad.mit.edu	37	8	24358343	24358343	+	Silent	SNP	C	C	T	rs149009178		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24358343C>T	uc003xeb.2	+	19	2156	c.2043C>T	c.(2041-2043)GTC>GTT	p.V681V	ADAM7_uc003xec.2_Silent_p.V453V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	681	Helical; (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTTATTGTCGGTATCGGAG	0.378		NA											16	70					0	0	0	0
ADRA1A	148	broad.mit.edu	37	8	26628171	26628171	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:26628171G>T	uc003xfh.1	-	2	1332	c.896C>A	c.(895-897)CCT>CAT	p.P299H	ADRA1A_uc003xfc.1_Missense_Mutation_p.P299H|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.P299H|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.P299H	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	299	Extracellular (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAAATCAGGGAAGAAAGA	0.393		NA											12	58					5.51e-06	1.11e-05	1	0
LETM2	137994	broad.mit.edu	37	8	38258566	38258566	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:38258566G>A	uc003xlm.1	+	6	1009	c.838G>A	c.(838-840)GAT>AAT	p.D280N	LETM2_uc011lbn.1_Missense_Mutation_p.D124N|LETM2_uc003xll.1_Missense_Mutation_p.D232N|LETM2_uc003xln.1_Missense_Mutation_p.D124N|LETM2_uc003xlo.1_Missense_Mutation_p.D124N	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	327	LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AAAAGCAGATGATGAAGTAAG	0.428		NA											32	46					0	0	0	0
ADAM32	203102	broad.mit.edu	37	8	39022556	39022556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:39022556C>T	uc003xmt.3	+	9	919	c.674C>T	c.(673-675)ACC>ATC	p.T225I	ADAM32_uc011lch.1_Missense_Mutation_p.T232I|ADAM32_uc003xmu.3_Missense_Mutation_p.T225I	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	225	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TAGATGTTCACCCAATTTAAA	0.294		NA											20	60					0	0	0	0
CSPP1	79848	broad.mit.edu	37	8	68044264	68044264	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:68044264G>A	uc003xxi.2	+	16	1897	c.1866G>A	c.(1864-1866)CCG>CCA	p.P622P	CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	622						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353		NA											11	60					0	0	0	0
EYA1	2138	broad.mit.edu	37	8	72211956	72211956	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:72211956C>A	uc003xys.3	-	7	844	c.557_splice	c.e7-1	p.G186_splice	EYA1_uc003xyr.3_Splice_Site_p.G181_splice|EYA1_uc003xyt.3_Splice_Site_p.G153_splice|EYA1_uc010lzf.2_Splice_Site_p.G113_splice|EYA1_uc003xyu.2_Splice_Site_p.G186_splice|EYA1_uc011lfe.1_Splice_Site_p.G180_splice|EYA1_uc003xyv.2_Splice_Site_p.G64_splice	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b						double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAACTGCTACCTAAAACAAAA	0.323		NA											21	87					2.46e-09	5.46e-09	1	0
KCNB2	9312	broad.mit.edu	37	8	73480118	73480118	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:73480118G>T	uc003xzb.2	+	2	737	c.149G>T	c.(148-150)TGG>TTG	p.W50L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	50	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAAGTCCTGTGGAGAACGCTG	0.557		NA											41	87					8.48e-28	2.1e-27	1	0
FAM164A	51101	broad.mit.edu	37	8	79598715	79598715	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:79598715A>G	uc003ybd.2	+	4	326	c.224A>G	c.(223-225)AAG>AGG	p.K75R		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	75										ovary(1)	1						GAACCACCAAAGAAACCATCT	0.313		NA											3	9					0	0	0	0
GEM	2669	broad.mit.edu	37	8	95272561	95272561	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:95272561G>T	uc003ygj.2	-	2	420	c.171C>A	c.(169-171)AGC>AGA	p.S57R	GEM_uc003ygi.2_Missense_Mutation_p.S57R	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	57					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGAGGACCAGCTTCGGCGGC	0.602		NA											8	71					5.18e-06	1.05e-05	1	0
GDF6	392255	broad.mit.edu	37	8	97156802	97156802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:97156802C>T	uc003yhp.2	-	2	1457	c.1357G>A	c.(1357-1359)GGC>AGC	p.G453S		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	453					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					TACCTGCAGCCGCACGACTCC	0.622		NA											5	15					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100874157	100874157	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:100874157T>A	uc003yiv.2	+	58	11384	c.11273T>A	c.(11272-11274)CTG>CAG	p.L3758Q	VPS13B_uc003yiw.2_Missense_Mutation_p.L3733Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3758					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTCCCGGCTGGGCATCAGC	0.672		NA											3	7					0	0	0	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:105463544C>T	uc003yly.3	-	2	482	c.353G>A	c.(352-354)CGA>CAA	p.R118Q		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522		NA											10	52					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113243843	113243843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:113243843C>A	uc003ynu.2	-	69	10918	c.10759G>T	c.(10759-10761)GGA>TGA	p.G3587*	CSMD3_uc003yns.2_Nonsense_Mutation_p.G2789*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3547*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3418*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3587	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAAGTAGCTCCATCAGGCTCA	0.323		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	112					0.000151284	0.000288292	1	0
ADCY8	114	broad.mit.edu	37	8	131916241	131916241	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:131916241T>C	uc003ytd.3	-	7	1944	c.1688A>G	c.(1687-1689)TAT>TGT	p.Y563C	ADCY8_uc010mds.2_Missense_Mutation_p.Y563C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	563	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCCACGTTATAGTCACCGTT	0.468		NA								HNSCC(32;0.087)			35	211					0	0	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141603	133141603	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133141603G>A	uc003ytj.2	-	15	2750	c.2525C>T	c.(2524-2526)ACG>ATG	p.T842M	KCNQ3_uc010mdt.2_Missense_Mutation_p.T830M|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	842					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAGGGGTCCGTGTCTGTGTC	0.572		NA											8	52					0	0	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142133	133142133	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133142133C>A	uc003ytj.2	-	15	2220	c.1995G>T	c.(1993-1995)TCG>TCT	p.S665S	KCNQ3_uc010mdt.2_Silent_p.S653S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	665					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCAGCTGGCGAGGAGGTGC	0.532		NA											17	115					3.33e-07	7.07e-07	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136594270	136594270	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:136594270A>T	uc003yuv.2	+	6	1155	c.761A>T	c.(760-762)TAC>TTC	p.Y254F	KHDRBS3_uc003yuw.2_Missense_Mutation_p.Y254F|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	254	Pro-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAACTGGGTACAGACCTCCA	0.557		NA											6	56					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139323163	139323163	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:139323163C>T	uc003yuy.2	-	3	249	c.78G>A	c.(76-78)GGG>GGA	p.G26G	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	26										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGGTAATACCTAAGAAAAG	0.468		NA								HNSCC(54;0.14)			10	55					0	0	0	0
DENND3	22898	broad.mit.edu	37	8	142188188	142188188	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:142188188C>T	uc003yvy.2	+	16	2767	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V	DENND3_uc010mep.2_Missense_Mutation_p.A791V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	830										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAGCAGGCGCTGACCAAC	0.517		NA											14	45					0	0	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:143994781G>T	uc003yxk.1	-	6	1044	c.1041C>A	c.(1039-1041)GCC>GCA	p.A347A		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCTGGCTGCGGCGGCCAGGC	0.642		NA							Familial_Hyperaldosteronism_type_I				15	93					3.46e-05	6.8e-05	1	0
IFNA4	3441	broad.mit.edu	37	9	21187364	21187364	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:21187364C>A	uc003zon.2	-	1	235	c.167G>T	c.(166-168)AGA>ATA	p.R56I		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	56					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAATCATGTCTGTCCTTCAG	0.522		NA											98	140					5.34e-38	1.33e-37	1	0
RECK	8434	broad.mit.edu	37	9	36083451	36083451	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:36083451C>T	uc003zyv.2	+	8	615	c.529C>T	c.(529-531)CCA>TCA	p.P177S	RECK_uc010mld.2_Missense_Mutation_p.P177S|RECK_uc003zyu.3_Missense_Mutation_p.P177S|RECK_uc003zyw.2_Missense_Mutation_p.P49S|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	177	5 X Knot repeats.|Knot 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTCTCCTGGTCCATCTCAGAT	0.408		NA											15	89					0	0	0	0
FBXO10	26267	broad.mit.edu	37	9	37518331	37518331	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37518331T>A	uc004aab.2	-	9	2354	c.2305A>T	c.(2305-2307)ACC>TCC	p.T769S	FBXO10_uc004aac.2_Missense_Mutation_p.T785S|FBXO10_uc004aad.2_Missense_Mutation_p.T319S	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	769	PbH1 15.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		GCCACTCGGGTGGGTTGGCTG	0.567		NA											23	24					0	0	0	0
DCAF10	79269	broad.mit.edu	37	9	37860055	37860055	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37860055A>G	uc004aao.2	+	6	1250	c.1176A>G	c.(1174-1176)CCA>CCG	p.P392P	DCAF10_uc010mlz.2_Silent_p.P219P|DCAF10_uc004aap.2_Silent_p.P43P	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	392						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						GAGTTTCACCACGAAATAGTC	0.448		NA											4	77					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73151901	73151901	+	Silent	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:73151901T>A	uc004aid.2	-	25	4336	c.4092A>T	c.(4090-4092)CTA>CTT	p.L1364L	TRPM3_uc004ahu.2_Silent_p.L1206L|TRPM3_uc004ahv.2_Silent_p.L1166L|TRPM3_uc004ahw.2_Silent_p.L1236L|TRPM3_uc004ahx.2_Silent_p.L1223L|TRPM3_uc004ahy.2_Silent_p.L1226L|TRPM3_uc004ahz.2_Silent_p.L1213L|TRPM3_uc004aia.2_Silent_p.L1211L|TRPM3_uc004aib.2_Silent_p.L1201L|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1389	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TAGCCCGGTGTAGGCTCAGGG	0.463		NA											36	114					0	0	0	0
PAPPA	5069	broad.mit.edu	37	9	118973930	118973930	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:118973930T>A	uc004bjn.2	+	4	2018	c.1637T>A	c.(1636-1638)TTG>TAG	p.L546*	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	546	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GGCATTGTCTTGAACCCATCT	0.502		NA											22	64					0	0	0	0
OR1L3	26735	broad.mit.edu	37	9	125438052	125438052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:125438052T>C	uc011lzb.1	+	1	644	c.644T>C	c.(643-645)ATC>ACC	p.I215T		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTCTGTATCATCATCTCTTAT	0.488		NA											22	91					0	0	0	0
FANCB	2187	broad.mit.edu	37	X	14882732	14882732	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:14882732C>G	uc004cwg.1	-	3	1169	c.901G>C	c.(901-903)GTA>CTA	p.V301L	FANCB_uc004cwh.1_Missense_Mutation_p.V301L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	301					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					ATAAAGGATACAACGAAAAAG	0.378		NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				9	39					0	0	0	0
CDKL5	6792	broad.mit.edu	37	X	18638053	18638053	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18638053G>T	uc004cym.2	+	16	2596	c.2343G>T	c.(2341-2343)AGG>AGT	p.R781S	CDKL5_uc004cyn.2_Missense_Mutation_p.R781S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	781					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GATTTTTCAGGTCAATGAAAA	0.289		NA											8	14					1.26e-09	2.82e-09	1	0
PHKA2	5256	broad.mit.edu	37	X	18913306	18913306	+	Missense_Mutation	SNP	G	G	A	rs148627941		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18913306G>A	uc004cyv.3	-	31	3716	c.3286C>T	c.(3286-3288)CAC>TAC	p.H1096Y	PHKA2_uc004cyu.3_Missense_Mutation_p.H402Y|PHKA2_uc010nfe.1_Missense_Mutation_p.H128Y|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1096	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					GAGAGACCGTGGCACTGGAGG	0.552		NA											23	65					0	0	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158123	26158123	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:26158123C>A	uc004dbq.1	+	2	1208	c.1021C>A	c.(1021-1023)CAT>AAT	p.H341N		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	341							protein binding			central_nervous_system(1)	1						CAGCTTCTCCCATGCTAAGTG	0.502		NA											3	9					0.004672	0.00828519	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973487	29973487	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:29973487G>C	uc004dby.2	+	11	2149	c.1641G>C	c.(1639-1641)TTG>TTC	p.L547F		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	547	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GCAACAAGTTGAACTCCAAGT	0.448		NA											7	16					0	0	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269597	30269597	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:30269597C>A	uc004dcc.2	+	4	1307	c.987C>A	c.(985-987)GCC>GCA	p.A329A	MAGEB1_uc004dcd.2_Silent_p.A329A|MAGEB1_uc004dce.2_Silent_p.A329A	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	329											0						GCACTACTGCCACGACTTTTA	0.532		NA											13	54					2.27e-07	4.84e-07	1	0
DMD	1756	broad.mit.edu	37	X	32366523	32366523	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:32366523C>T	uc004dda.1	-	38	5692	c.5448G>A	c.(5446-5448)ATG>ATA	p.M1816I	DMD_uc004dcw.2_Missense_Mutation_p.M472I|DMD_uc004dcx.2_Missense_Mutation_p.M475I|DMD_uc004dcz.2_Missense_Mutation_p.M1693I|DMD_uc004dcy.1_Missense_Mutation_p.M1812I|DMD_uc004ddb.1_Missense_Mutation_p.M1808I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1816	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCAATTTACCATATCTTTAT	0.353		NA											12	37					0	0	0	0
RPGR	6103	broad.mit.edu	37	X	38145138	38145138	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:38145138T>C	uc004ded.1	-	15	3282	c.3114A>G	c.(3112-3114)GAA>GAG	p.E1038E	RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						cctcctctccttcctcttcct	0.045		NA											3	12					0	0	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978369	54978369	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:54978369C>G	uc004dty.1	-	8	886	c.815G>C	c.(814-816)GGT>GCT	p.G272A	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.G207A	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	272	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						GCCAGAGTCACCTCCGATGCG	0.582		NA											8	11					0	0	0	0
MTMR8	55613	broad.mit.edu	37	X	63563520	63563520	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:63563520T>G	uc004dvs.2	-	8	1014	c.946A>C	c.(946-948)ATT>CTT	p.I316L	MTMR8_uc011mou.1_Missense_Mutation_p.I316L|MTMR8_uc004dvt.1_Missense_Mutation_p.I316L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	316	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						GCATCCATAATAGCTTTAATG	0.323		NA											4	15					0	0	0	0
AWAT2	158835	broad.mit.edu	37	X	69262102	69262102	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:69262102T>C	uc004dxt.1	-	6	788	c.782A>G	c.(781-783)TAT>TGT	p.Y261C		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	261						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						GCCACGTCCATAGAAAGCACA	0.537		NA											12	26					0	0	0	0
TAF9B	51616	broad.mit.edu	37	X	77393354	77393354	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:77393354T>C	uc004eda.2	-	4	368	c.297A>G	c.(295-297)AAA>AAG	p.K99K		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	99					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						GGGTTTGATTTTTCTGCCTTG	0.343		NA											20	55					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79999597	79999597	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:79999597C>G	uc004edt.2	-	8	1010	c.747G>C	c.(745-747)TGG>TGC	p.W249C	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.W78C|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	249	WD 3.									ovary(4)	4						TTCGAAGACACCATACTCTTA	0.413		NA											8	43					0	0	0	0
DACH2	117154	broad.mit.edu	37	X	85969660	85969660	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:85969660C>A	uc004eew.2	+	6	1211	c.1041C>A	c.(1039-1041)GCC>GCA	p.A347A	DACH2_uc004eex.2_Silent_p.A334A|DACH2_uc010nmq.2_Silent_p.A213A|DACH2_uc011mra.1_Silent_p.A180A|DACH2_uc010nmr.2_Silent_p.A128A|DACH2_uc004eey.2_Silent_p.A30A|DACH2_uc004eez.2_Silent_p.A30A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						ATACTATTGCCAACATGGCTG	0.448		NA											8	65					0.000442599	0.000813707	1	0
ARMCX2	9823	broad.mit.edu	37	X	100912388	100912388	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:100912388T>C	uc004eid.2	-	3	542	c.187A>G	c.(187-189)ATC>GTC	p.I63V	ARMCX2_uc004eie.3_Missense_Mutation_p.I63V|ARMCX2_uc004eif.3_Missense_Mutation_p.I63V|ARMCX2_uc004eig.3_Missense_Mutation_p.I63V|ARMCX2_uc010nnt.2_Missense_Mutation_p.I63V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	63						integral to membrane	binding			ovary(6)	6						CCAAGGTCGATTGTGAATCCG	0.463		NA											15	59					0	0	0	0
DCX	1641	broad.mit.edu	37	X	110644217	110644217	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:110644217C>A	uc004epd.2	-	3	1120	c.948_splice	c.e3+1	p.Q316_splice	DCX_uc011msv.1_Splice_Site_p.Q316_splice|DCX_uc004epe.2_Splice_Site_p.Q235_splice|DCX_uc004epf.2_Splice_Site_p.Q235_splice|DCX_uc004epg.2_Splice_Site_p.Q235_splice	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a						axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						AAAGTACCTACCTGTTTTCCA	0.398		NA											31	116					1.08e-15	2.57e-15	1	0
LUZP4	51213	broad.mit.edu	37	X	114540770	114540770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:114540770G>T	uc004eqa.2	+	4	377	c.343G>T	c.(343-345)GAG>TAG	p.E115*	LUZP4_uc004eqb.2_Nonsense_Mutation_p.E33*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	115						nucleus				ovary(2)	2						TCCTTTTCAGGAGAAGTGCAG	0.378		NA											6	32					0.00116845	0.00211096	1	0
GPC3	2719	broad.mit.edu	37	X	133087117	133087117	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:133087117C>A	uc004exe.1	-	2	487	c.297G>T	c.(295-297)GAG>GAT	p.E99D	GPC3_uc010nrn.1_Missense_Mutation_p.E99D|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	99						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AGAACTTGAGCTCCATACTTG	0.438		NA	T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				31	174					5.6e-13	1.32e-12	1	0
MCF2	4168	broad.mit.edu	37	X	138708352	138708352	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:138708352C>A	uc004fau.2	-	6	981	c.687G>T	c.(685-687)CAG>CAT	p.Q229H	MCF2_uc004fav.2_Missense_Mutation_p.Q229H|MCF2_uc011mwl.1_Missense_Mutation_p.Q190H|MCF2_uc010nsh.1_Missense_Mutation_p.Q229H|MCF2_uc011mwm.1_Missense_Mutation_p.Q190H|MCF2_uc011mwn.1_Missense_Mutation_p.Q374H|MCF2_uc004faw.2_Missense_Mutation_p.Q289H|MCF2_uc011mwo.1_Missense_Mutation_p.Q289H	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	229	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TTTAACTGACCTGTTGAAAAT	0.348		NA											11	67					4.69e-08	1.01e-07	1	0
DNASE1L1	1774	broad.mit.edu	37	X	153631469	153631469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153631469G>T	uc004fks.1	-	7	779	c.588C>A	c.(586-588)GAC>GAA	p.D196E	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fku.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D196E	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	196					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCAGCTTGTCCAGGCGCT	0.622		NA											22	67					6.45e-10	1.45e-09	1	0
PLXNA3	55558	broad.mit.edu	37	X	153695707	153695707	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153695707C>T	uc004flm.2	+	19	3507	c.3334C>T	c.(3334-3336)CGC>TGC	p.R1112C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1112	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAAACGGCCCGCTCCCTCAA	0.652		NA											9	57					0	0	0	0
TMLHE	55217	broad.mit.edu	37	X	154736700	154736700	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:154736700G>T	uc004fnn.2	-	6	1020	c.854C>A	c.(853-855)GCA>GAA	p.A285E	TMLHE_uc004fno.2_Missense_Mutation_p.A285E|TMLHE_uc004fnp.3_Missense_Mutation_p.A285E	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	285					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCTCAGGTGCCTTTTGAAG	0.418		NA											39	104					1.03e-13	2.44e-13	1	0
MYBPC1	4604	broad.mit.edu	37	12	102040650	102040650	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:102040650delG	uc001tii.2	+	11	1102	c.1000delG	c.(1000-1002)GAGfs	p.E334fs	MYBPC1_uc001tif.1_Frame_Shift_Del_p.E347fs|MYBPC1_uc001tig.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc010svq.1_Frame_Shift_Del_p.E321fs|MYBPC1_uc001tih.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc001tij.2_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svr.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svs.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svt.1_Frame_Shift_Del_p.E322fs|MYBPC1_uc010svu.1_Frame_Shift_Del_p.E315fs|MYBPC1_uc001tik.2_Frame_Shift_Del_p.E308fs	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	334	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						ATGTTCCACTGAGCTCTTCGT	0.413		NA											35	52	---	---	---	---	NA	NA	NA	NA
RILPL1	353116	broad.mit.edu	37	12	124008061	124008065	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124008061_124008065delCTCCT	uc001ufe.2	-	2	673_677	c.437_441delAGGAG	c.(436-441)GAGGAGfs	p.E146fs	RILPL1_uc010tas.1_Frame_Shift_Del_p.E146fs	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	146_147	Potential.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCTGGAACTCCTCCTCTGAGAAATT	0.585		NA											10	98	---	---	---	---	NA	NA	NA	NA
KLHL1	57626	broad.mit.edu	37	13	70681720	70681720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:70681720delG	uc001vip.2	-	1	906	c.112delC	c.(112-114)CTGfs	p.L38fs	KLHL1_uc010thm.1_Frame_Shift_Del_p.L38fs|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	38					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTGTTGCAGGCAGCCTCCC	0.607		NA											7	24	---	---	---	---	NA	NA	NA	NA
ITGBL1	9358	broad.mit.edu	37	13	102359121	102359121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:102359121delC	uc001vpb.2	+	9	1367	c.1148delC	c.(1147-1149)TCCfs	p.S383fs	ITGBL1_uc010agb.2_Frame_Shift_Del_p.S334fs|ITGBL1_uc001vpc.3_Frame_Shift_Del_p.S242fs	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	383	VIII.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468		NA											22	45	---	---	---	---	NA	NA	NA	NA
SRCAP	10847	broad.mit.edu	37	16	30748614	30748614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30748614delA	uc002dze.1	+	34	7638	c.7253delA	c.(7252-7254)CATfs	p.H2418fs	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.H2213fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2418					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			ATATCCGCCCATCAAACTCGC	0.517		NA											10	34	---	---	---	---	NA	NA	NA	NA
C2orf44	80304	broad.mit.edu	37	2	24253907	24253908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:24253907_24253908delAA	uc002rep.2	-	4	2192_2193	c.2061_2062delTT	c.(2059-2064)TTTTCTfs	p.F687fs	C2orf44_uc010eya.2_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	687_688							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTGAGAAAAAGAGTCTC	0.475		NA											9	105	---	---	---	---	NA	NA	NA	NA
SLC11A1	6556	broad.mit.edu	37	2	219257742	219257743	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:219257742_219257743insCT	uc002vhv.2	+	12	1543_1544	c.1203_1204insCT	c.(1201-1206)GTCCTCfs	p.V401fs	SLC11A1_uc010fvp.1_3'UTR|SLC11A1_uc010fvq.1_3'UTR|SLC11A1_uc010zkc.1_Frame_Shift_Ins_p.V334fs|SLC11A1_uc002vhu.1_Frame_Shift_Ins_p.V196fs|SLC11A1_uc002vhw.2_Frame_Shift_Ins_p.V283fs|SLC11A1_uc010fvr.2_Frame_Shift_Ins_p.V196fs	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	401_402	Helical; (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCCGTGTCCTCCTCACCCG	0.634		NA											10	42	---	---	---	---	NA	NA	NA	NA
DIS3L2	129563	broad.mit.edu	37	2	233194619	233194619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:233194619delG	uc010fxz.2	+	15	2112	c.1836delG	c.(1834-1836)CCGfs	p.P612fs	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	612							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCACCCCCCGCCCCAAACAA	0.652		NA											11	41	---	---	---	---	NA	NA	NA	NA
PCDHGA2	56113	broad.mit.edu	37	5	140719785	140719785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140719785delC	uc003ljk.1	+	1	1432	c.1247delC	c.(1246-1248)TCCfs	p.S416fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Frame_Shift_Del_p.S416fs	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	416	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTTTTCCTTTTACAAC	0.478		NA											10	54	---	---	---	---	NA	NA	NA	NA
FZD3	7976	broad.mit.edu	37	8	28413285	28413285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:28413285delG	uc003xgx.2	+	7	2062	c.1584delG	c.(1582-1584)CAGfs	p.Q528fs	FZD3_uc010lvb.2_Frame_Shift_Del_p.Q528fs	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	528	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGGTACTCCAGGAACCTGATT	0.418		NA											22	80	---	---	---	---	NA	NA	NA	NA
