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
PLEKHM2	23207	broad.mit.edu	37	1	16046240	16046240	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:16046240C>T	uc010obo.1	+	6	704	c.477C>T	c.(475-477)TAC>TAT	p.Y159Y		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	159	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGCCCCTTACCTAGACCTGG	0.607		NA											27	20					0	0	0	0
SRRM1	10250	broad.mit.edu	37	1	24978993	24978993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:24978993C>G	uc001bjm.2	+	7	1018	c.794C>G	c.(793-795)TCC>TGC	p.S265C	SRRM1_uc010oel.1_Missense_Mutation_p.S265C|SRRM1_uc009vrh.1_Missense_Mutation_p.S226C|SRRM1_uc009vri.1_Missense_Mutation_p.S182C|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	265	Pro-rich.|Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAAAAAATTCCAAAAAAGAA	0.448		NA											10	11					0	0	0	0
COL16A1	1307	broad.mit.edu	37	1	32140630	32140630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:32140630G>C	uc001btk.1	-	44	3202	c.2837C>G	c.(2836-2838)CCA>CGA	p.P946R	COL16A1_uc001btj.1_Missense_Mutation_p.P759R	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	946	Nonhelical region 4 (NC4).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTCAATTGGTAAGGATCC	0.542		NA											7	11					0	0	0	0
ACOT11	26027	broad.mit.edu	37	1	55064970	55064970	+	Missense_Mutation	SNP	C	C	T	rs148238018	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:55064970C>T	uc001cxm.1	+	8	848	c.766C>T	c.(766-768)CGG>TGG	p.R256W	ACOT11_uc001cxj.1_Missense_Mutation_p.R134W|ACOT11_uc001cxl.1_Missense_Mutation_p.R256W	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	256	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CCTCCTCAGCCGGCTCTGCCG	0.522		NA											18	27					0	0	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392390	60392390	+	Missense_Mutation	SNP	G	G	A	rs146801076	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:60392390G>A	uc001czq.2	-	1	34	c.29C>T	c.(28-30)GCT>GTT	p.A10V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	10					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					CCAGAGGGCAGCCGCCAGAGA	0.607		NA											4	9					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197091324	197091324	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:197091324G>T	uc001gtu.2	-	15	3963	c.3706C>A	c.(3706-3708)CAT>AAT	p.H1236N	ASPM_uc001gtv.2_Missense_Mutation_p.H1236N|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1236					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATATCTGAATGATTAATCATA	0.308		NA											10	40					0.000978159	0.00104388	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203786208	203786208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:203786208C>G	uc001hac.2	+	5	626	c.10C>G	c.(10-12)CAA>GAA	p.Q4E	ZC3H11A_uc001had.2_Missense_Mutation_p.Q4E|ZC3H11A_uc001hae.2_Missense_Mutation_p.Q4E|ZC3H11A_uc001haf.2_Missense_Mutation_p.Q4E|ZC3H11A_uc010pqm.1_Intron|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q4E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	4	C3H1-type 1.						nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGCCTAATCAAGGAGAAGA	0.388		NA											16	89					0	0	0	0
TMCC2	9911	broad.mit.edu	37	1	205210771	205210771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:205210771G>T	uc001hbz.1	+	3	790	c.346G>T	c.(346-348)GAC>TAC	p.D116Y	TMCC2_uc010prf.1_Missense_Mutation_p.D38Y	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	116						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGTATGTCCGACCATGACTC	0.637		NA											6	38					0.00116845	0.00124053	1	0
NID1	4811	broad.mit.edu	37	1	236205526	236205526	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:236205526G>A	uc001hxo.2	-	4	921	c.819C>T	c.(817-819)GGC>GGT	p.G273G	NID1_uc009xgd.2_Silent_p.G273G	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	273					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGCACCACGCCATTGGTGG	0.557		NA											59	152					0	0	0	0
OR2M3	127062	broad.mit.edu	37	1	248367254	248367254	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248367254G>A	uc010pzg.1	+	1	885	c.885G>A	c.(883-885)AAG>AAA	p.K295K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			TCCGCAACAAGGAGGTGACCA	0.458		NA											30	83					0	0	0	0
OR2T1	26696	broad.mit.edu	37	1	248569576	248569576	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248569576T>A	uc010pzm.1	+	1	281	c.281T>A	c.(280-282)GTT>GAT	p.V94D		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	94	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAATGGGGTTATGATCTTC	0.428		NA											20	136					0	0	0	0
CBARA1	10367	broad.mit.edu	37	10	74234891	74234891	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:74234891C>T	uc001jtb.1	-	9	1039	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	CBARA1_uc010qjw.1_Silent_p.Q102Q|CBARA1_uc010qjx.1_Silent_p.Q102Q|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	300					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						GCAGTTTACGCTGAAATTCGA	0.468		NA											4	10					0	0	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779477	97779477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:97779477C>G	uc001kll.2	+	8	875	c.676C>G	c.(676-678)CAA>GAA	p.Q226E	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.Q226E|uc009xvb.1_RNA	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	226										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TAATATTCAACAAAATAATAC	0.333		NA											34	126					0	0	0	0
TM9SF3	56889	broad.mit.edu	37	10	98292908	98292908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98292908G>C	uc001kmm.3	-	10	1442	c.1225C>G	c.(1225-1227)CTA>GTA	p.L409V	TM9SF3_uc010qot.1_Missense_Mutation_p.L409V	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	409	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAAGATTTAGAGGAAGAATA	0.363		NA											17	31					0	0	0	0
C10orf12	26148	broad.mit.edu	37	10	98744407	98744407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98744407G>A	uc001kmv.2	+	1	3367	c.3260G>A	c.(3259-3261)AGT>AAT	p.S1087N		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1087										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGTTCAGAGTAAACGCAAG	0.488		NA											20	24					0	0	0	0
PDCD11	22984	broad.mit.edu	37	10	105174033	105174033	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:105174033T>C	uc001kwy.1	+	11	1404	c.1317T>C	c.(1315-1317)ATT>ATC	p.I439I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	439					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTAGGTCTATTATTGAAGCTC	0.438		NA											7	19					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	106982948	106982948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:106982948G>A	uc001kyi.1	+	20	3036	c.2809G>A	c.(2809-2811)GTG>ATG	p.V937M	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	937	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGCAGTCGTGTGGCCCAG	0.448		NA											50	53					0	0	0	0
KIAA1598	57698	broad.mit.edu	37	10	118713583	118713583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:118713583C>A	uc009xyw.2	-	5	904	c.406G>T	c.(406-408)GTC>TTC	p.V136F	KIAA1598_uc001lcz.3_Missense_Mutation_p.V136F|KIAA1598_uc010qso.1_Missense_Mutation_p.V76F|KIAA1598_uc010qsp.1_Missense_Mutation_p.V136F|KIAA1598_uc010qsq.1_Missense_Mutation_p.V76F|KIAA1598_uc001lcy.3_Missense_Mutation_p.V106F	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	136	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		TGTACTGAGACACAAGTCTCG	0.363		NA											19	26					6.45e-10	7.54e-10	1	0
PDZD8	118987	broad.mit.edu	37	10	119044328	119044328	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:119044328A>G	uc001lde.1	-	5	2115	c.1916T>C	c.(1915-1917)GTG>GCG	p.V639A		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	639					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TATGGCATCCACATTTTTTGC	0.453		NA											6	55					0	0	0	0
ODF3	113746	broad.mit.edu	37	11	197593	197593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:197593G>A	uc001lob.2	+	3	436	c.142G>A	c.(142-144)GCA>ACA	p.A48T	ODF3_uc010qvk.1_Missense_Mutation_p.A48T|ODF3_uc001loc.2_Missense_Mutation_p.A48T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	48					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				ovary(1)	1		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAGCTGCGTGCACCGGCCTA	0.637		NA											20	23					0	0	0	0
TNNI2	7136	broad.mit.edu	37	11	1862048	1862048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1862048G>A	uc010qxe.1	+	4	209	c.187_splice	c.e4-1	p.E63_splice	TNNI2_uc010qxc.1_Splice_Site_p.E61_splice|TNNI2_uc010qxd.1_Splice_Site_p.E61_splice	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform						muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACCCCTAGGAGCTCTGCA	0.637		NA											7	10					0	0	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409554	17409554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:17409554G>A	uc001mna.2	-	1	653	c.85C>T	c.(85-87)CGC>TGC	p.R29C	KCNJ11_uc001mnb.3_Intron	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	29						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTCCGCTGGCGGGCACGGTAC	0.652		NA											24	50					0	0	0	0
HRASLS2	54979	broad.mit.edu	37	11	63325937	63325937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:63325937G>A	uc001nxg.1	-	3	373	c.314C>T	c.(313-315)CCT>CTT	p.P105L		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	105					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity				0						CAGCGAATAAGGCAACTCCTG	0.547		NA											12	46					0	0	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144112	65144112	+	Silent	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:65144112T>A	uc001odp.1	-	6	1055	c.633A>T	c.(631-633)GCA>GCT	p.A211A	SLC25A45_uc009yqi.1_Silent_p.A149A|SLC25A45_uc001odq.1_Silent_p.A187A|SLC25A45_uc001odr.1_Silent_p.A211A|SLC25A45_uc001ods.1_Silent_p.A169A|SLC25A45_uc001odt.1_Silent_p.A169A	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	211	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						AAGCAATGCCTGCAAAGCCCC	0.612		NA											30	19					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083244	66083244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083244C>T	uc001ohm.1	-	1	1272	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	419	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	ATCTGTGGCTCTCTGTCCTCT	0.657		NA											28	107					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083246	66083246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083246C>T	uc001ohm.1	-	1	1270	c.1253G>A	c.(1252-1254)AGA>AAA	p.R418K		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	418	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CTGTGGCTCTCTGTCCTCTGG	0.652		NA											28	107					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083267	66083267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083267C>G	uc001ohm.1	-	1	1249	c.1232G>C	c.(1231-1233)AGA>ACA	p.R411T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	411	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GAAGCTCGGTCTATAGGCCAG	0.647		NA											24	95					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083379	66083379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083379C>T	uc001ohm.1	-	1	1137	c.1120G>A	c.(1120-1122)GAT>AAT	p.D374N		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	374	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TCTTCCTCATCCTCCCCGTCA	0.622		NA											41	55					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083463	66083463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083463C>G	uc001ohm.1	-	1	1053	c.1036G>C	c.(1036-1038)GAT>CAT	p.D346H		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	346	EGF-like; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CTGATGCCATCAGCCTCCAGC	0.577		NA											29	33					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083527	66083527	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083527C>T	uc001ohm.1	-	1	989	c.972G>A	c.(970-972)CAG>CAA	p.Q324Q		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	324	EGF-like; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGACACACATCTGCTGGCACA	0.602		NA											17	31					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083548	66083548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083548C>G	uc001ohm.1	-	1	968	c.951G>C	c.(949-951)CAG>CAC	p.Q317H		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	317	EGF-like; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CACCGGCAATCTGGCACTCAT	0.597		NA											13	29					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083586	66083586	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083586C>A	uc001ohm.1	-	1	930	c.913G>T	c.(913-915)GAT>TAT	p.D305Y		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	305	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGCGGATCATCCTCCGCTGGC	0.617		NA											12	25					1.05e-09	1.22e-09	1	0
CD248	57124	broad.mit.edu	37	11	66083748	66083748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083748C>A	uc001ohm.1	-	1	768	c.751G>T	c.(751-753)GAT>TAT	p.D251Y		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	251	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	ACGTGACCATCCACCTCCTCC	0.687		NA											27	33					0.000184323	0.000199282	1	0
CD248	57124	broad.mit.edu	37	11	66083845	66083845	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083845C>T	uc001ohm.1	-	1	671	c.654G>A	c.(652-654)GAG>GAA	p.E218E		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	218	Sushi.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CCACACCTCCCTCAGGCTGCT	0.662		NA											25	20					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083847	66083847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083847C>T	uc001ohm.1	-	1	669	c.652G>A	c.(652-654)GAG>AAG	p.E218K		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	218	Sushi.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	ACACCTCCCTCAGGCTGCTTC	0.667		NA											24	20					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66083928	66083928	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083928C>G	uc001ohm.1	-	1	588	c.571G>C	c.(571-573)GAG>CAG	p.E191Q		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	191	Sushi.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GGCAGCCACTCAAACTCTGTG	0.677		NA											12	22					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66084045	66084045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084045C>T	uc001ohm.1	-	1	471	c.454G>A	c.(454-456)GAC>AAC	p.D152N		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	152	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	AGGTAGCCGTCGACAGCCAGC	0.716		NA											17	15					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66084084	66084084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084084C>T	uc001ohm.1	-	1	432	c.415G>A	c.(415-417)GAG>AAG	p.E139K		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	139	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CAGCGGTGCTCGCCACTTGCC	0.706		NA											21	17					0	0	0	0
TPCN2	219931	broad.mit.edu	37	11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	rs142288453	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:68835058G>A	uc001oos.2	+	8	930	c.814G>A	c.(814-816)GCC>ACC	p.A272T	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.A187T|TPCN2_uc010rqg.1_Missense_Mutation_p.A272T	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637		NA											12	366					0	0	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249400	71249400	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:71249400G>T	uc001oqr.1	+	1	330	c.299G>T	c.(298-300)TGT>TTT	p.C100F		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	100	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						TCCTCAGGCTGTGGGTCATCC	0.612		NA											72	504					3.79e-24	4.64e-24	1	0
TMEM135	65084	broad.mit.edu	37	11	87016978	87016978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:87016978A>G	uc001pch.2	+	9	722	c.699A>G	c.(697-699)ATA>ATG	p.I233M	TMEM135_uc010rtt.1_Missense_Mutation_p.I94M|TMEM135_uc001pci.2_Missense_Mutation_p.I211M	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	233						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAATTTCAGATGCAAACATG	0.284		NA											18	25					0	0	0	0
HSPA8	3312	broad.mit.edu	37	11	122930647	122930647	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:122930647C>T	uc001pyo.2	-	5	732	c.654G>A	c.(652-654)GAG>GAA	p.E218E	HSPA8_uc009zbc.2_5'UTR|HSPA8_uc001pyp.2_Silent_p.E218E|HSPA8_uc010rzu.1_Silent_p.E141E|HSPA8_uc009zbd.1_Silent_p.E218E|HSPA8_uc010rzv.1_3'UTR	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	218	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGACTTGACCTCAAAGATTC	0.453		NA											5	32					0	0	0	0
PARP11	57097	broad.mit.edu	37	12	3921420	3921420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:3921420G>A	uc001qmk.1	-	7	920	c.865C>T	c.(865-867)CGA>TGA	p.R289*	PARP11_uc001qml.2_Nonsense_Mutation_p.R296*|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Nonsense_Mutation_p.R215*|PARP11_uc001qmn.2_Nonsense_Mutation_p.R215*	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	289	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGGAGGTCGCATGTATTTG	0.413		NA											39	82					0	0	0	0
C12orf4	57102	broad.mit.edu	37	12	4627336	4627336	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:4627336A>T	uc001qms.2	-	8	1009	c.921T>A	c.(919-921)AGT>AGA	p.S307R	C12orf4_uc001qmt.2_Missense_Mutation_p.S307R	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	307											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTTCACACCACTTCGATGAT	0.413		NA											55	67					0	0	0	0
COPZ1	22818	broad.mit.edu	37	12	54744278	54744278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:54744278G>A	uc001sfs.1	+	9	542	c.505G>A	c.(505-507)GAA>AAA	p.E169K	COPZ1_uc001sft.2_Missense_Mutation_p.E118K|COPZ1_uc009znm.1_Missense_Mutation_p.E177K|COPZ1_uc010sot.1_Missense_Mutation_p.E146K	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	169					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0						GTCAGCCAAAGAACAGATCAA	0.493		NA											10	148					0	0	0	0
TMEM5	10329	broad.mit.edu	37	12	64202512	64202512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:64202512G>C	uc001srq.1	+	6	1076	c.972G>C	c.(970-972)CAG>CAC	p.Q324H	TMEM5_uc001srr.1_Missense_Mutation_p.Q221H|TMEM5_uc001srs.1_Missense_Mutation_p.Q64H	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	324	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CCTTGCTTCAGAGTGATCTCA	0.428		NA											27	60					0	0	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057278	72057278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:72057278C>T	uc001swo.2	-	1	472	c.113G>A	c.(112-114)AGT>AAT	p.S38N	ZFC3H1_uc010sts.1_Missense_Mutation_p.S38N|ZFC3H1_uc001swp.2_Missense_Mutation_p.S38N|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	38	Ser-rich.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCTGCTCCGACTCCGTATCTG	0.657		NA									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	106					0	0	0	0
LHX5	64211	broad.mit.edu	37	12	113906037	113906037	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:113906037C>T	uc001tvj.1	-	3	1144	c.570G>A	c.(568-570)AAG>AAA	p.K190K		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	190	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCTCCAGCTGCTTGGCCTTGA	0.672		NA											15	24					0	0	0	0
FBXO21	23014	broad.mit.edu	37	12	117615346	117615346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117615346C>T	uc001twk.2	-	4	610	c.571G>A	c.(571-573)GAC>AAC	p.D191N	FBXO21_uc001twj.2_Missense_Mutation_p.D191N|FBXO21_uc009zwq.2_Missense_Mutation_p.D191N	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GACTCATAGTCATCTGGCTGC	0.378		NA											47	50					0	0	0	0
KSR2	283455	broad.mit.edu	37	12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117968797G>A	uc001two.2	-	12	1719	c.1664C>T	c.(1663-1665)ACG>ATG	p.T555M		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562		NA											51	94					0	0	0	0
HSPH1	10808	broad.mit.edu	37	13	31711647	31711647	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:31711647T>C	uc001utj.2	-	18	2783	c.2385A>G	c.(2383-2385)ACA>ACG	p.T795T	HSPH1_uc001utk.2_Silent_p.T751T|HSPH1_uc010aaw.2_Silent_p.T754T|HSPH1_uc001utl.2_Silent_p.T797T|HSPH1_uc010tds.1_Silent_p.T719T	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	795					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGGGTTCACATGTGTTGTTCA	0.358		NA											23	22					0	0	0	0
MLNR	2862	broad.mit.edu	37	13	49796405	49796405	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:49796405G>A	uc010tgj.1	+	2	1131	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	377	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AGTCCAGGCCGAGAGGCTTCC	0.552		NA											29	15					0	0	0	0
TEP1	7011	broad.mit.edu	37	14	20837659	20837659	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:20837659G>A	uc001vxe.2	-	53	7540	c.7500C>T	c.(7498-7500)ACC>ACT	p.T2500T	TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Silent_p.T1843T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T2392T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2500	WD 19.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTTACCTGTGGTCCATTCTC	0.488		NA											5	73					0	0	0	0
JUB	84962	broad.mit.edu	37	14	23450641	23450641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23450641C>A	uc001whz.2	-	1	1211	c.835G>T	c.(835-837)GAG>TAG	p.E279*		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	279	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		GCTGTTAGCTCGTCCTGGTAC	0.711		NA											7	15					8.13e-05	8.86e-05	1	0
PSMB5	5693	broad.mit.edu	37	14	23502633	23502633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23502633T>C	uc001wii.2	-	2	713	c.449A>G	c.(448-450)AAA>AGA	p.K150R	PSMB5_uc001wij.2_Missense_Mutation_p.K150R|PSMB5_uc010tni.1_Missense_Mutation_p.K47R	NM_002797	NP_002788	P28074	PSB5_HUMAN	proteasome beta 5 subunit isoform 1	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCCCATGCCTTTGTACTGATA	0.517		NA											33	69					0	0	0	0
ACIN1	22985	broad.mit.edu	37	14	23535181	23535181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23535181C>T	uc001wit.3	-	10	2804	c.2476G>A	c.(2476-2478)GTT>ATT	p.V826I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.V68I|ACIN1_uc001wiq.3_Missense_Mutation_p.V68I|ACIN1_uc001wir.3_Missense_Mutation_p.V99I|ACIN1_uc001wis.3_Missense_Mutation_p.V508I|ACIN1_uc010akg.2_Missense_Mutation_p.V826I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	826					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTACAGACAACGGAGATCTTC	0.433		NA											15	39					0	0	0	0
HECTD1	25831	broad.mit.edu	37	14	31626071	31626071	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:31626071T>G	uc001wrc.1	-	12	2396	c.1907A>C	c.(1906-1908)AAT>ACT	p.N636T	HECTD1_uc001wrd.1_Missense_Mutation_p.N151T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	636					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCTCTTCATTCTCATCATC	0.343		NA											25	36					0	0	0	0
C14orf104	55172	broad.mit.edu	37	14	50100984	50100985	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:50100984_50100985GC>TT	uc001wws.3	-	1	964_965	c.883_884GC>AA	c.(883-885)GCC>AAC	p.A295N	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.A295N	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					CGCCTGCTCGGCCGAGCGCAAC	0.653		NA							Kartagener_syndrome				10	26					0	0	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036671	58036671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:58036671C>A	uc001xdb.1	-	6	1069	c.1069G>T	c.(1069-1071)GCC>TCC	p.A357S	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.A198S	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						CCAAAGTTGGCACTTCCAAGA	0.428		NA											9	12					0.00829132	0.00864726	1	0
SIX4	51804	broad.mit.edu	37	14	61180764	61180764	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:61180764C>T	uc001xfc.2	-	3	1707	c.1707G>A	c.(1705-1707)CAG>CAA	p.Q569Q		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	569						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CCAAGCCTTCCTGTTTCACAG	0.468		NA											13	19					0	0	0	0
EXD2	55218	broad.mit.edu	37	14	69704290	69704290	+	Splice_Site	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:69704290A>G	uc001xkt.2	+	10	1577	c.918_splice	c.e10-2	p.R306_splice	EXD2_uc001xku.2_Splice_Site_p.R176_splice|EXD2_uc001xkv.2_Splice_Site_p.R431_splice|EXD2_uc001xkw.2_Splice_Site_p.R306_splice|EXD2_uc010aqt.2_Splice_Site_p.R431_splice|EXD2_uc010tte.1_Splice_Site_p.R431_splice|EXD2_uc001xky.2_Splice_Site_p.R306_splice	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GGCTTGTTCCAGGAAGAACGT	0.552		NA											14	23					0	0	0	0
SEL1L	6400	broad.mit.edu	37	14	81965994	81965995	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:81965994_81965995GA>TT	uc010tvv.1	-	7	906_907	c.789_790TC>AA	c.(787-792)TTTCTG>TTAATG	p.263_264FL>LM	SEL1L_uc001xvo.3_Missense_Mutation_p.263_264FL>LM	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	263_264	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 3.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GAGGCATACAGAAAGCCAAGAG	0.337		NA											8	34					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24921325	24921325	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:24921325A>C	uc001ywo.2	+	1	785	c.311A>C	c.(310-312)AAC>ACC	p.N104T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	104					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGCTCGGAACCCCCCGAGG	0.682		NA											4	49					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28389228	28389228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:28389228G>A	uc001zbj.2	-	73	11400	c.11294C>T	c.(11293-11295)GCC>GTC	p.A3765V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3765					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTACCTAGGGCACTCAGCTG	0.507		NA											30	64					0	0	0	0
TTBK2	146057	broad.mit.edu	37	15	43102902	43102902	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:43102902G>A	uc001zqo.2	-	9	1171	c.732C>T	c.(730-732)CAC>CAT	p.H244H	TTBK2_uc010bcy.2_Silent_p.H175H|TTBK2_uc001zqp.2_Silent_p.H244H|TTBK2_uc010bcz.1_Silent_p.H209H	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	244	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ACATGAGCCTGTGGTCATATC	0.413		NA											31	52					0	0	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814465	45814465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:45814465C>G	uc001zvj.2	-	2	400	c.88G>C	c.(88-90)GAC>CAC	p.D30H	C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	30	Cytoplasmic (Potential).|Asp-rich (acidic).			D -> E (in Ref. 1; AAB82561).	regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCCGAGAAGTCAAAGGCGCTG	0.572		NA											23	33					0	0	0	0
ADPGK	83440	broad.mit.edu	37	15	73044806	73044806	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:73044806C>G	uc002avg.3	-	7	1464	c.1370G>C	c.(1369-1371)AGA>ACA	p.R457T	ADPGK_uc002ave.3_Missense_Mutation_p.R182T|ADPGK_uc010ukw.1_Missense_Mutation_p.R399T|ADPGK_uc002avf.3_Missense_Mutation_p.R456T|ADPGK_uc002avi.3_Missense_Mutation_p.R334T|ADPGK_uc002avh.3_Missense_Mutation_p.R218T	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	457	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						TATTCCCTCTCTGTGCCATTC	0.493		NA											41	116					0	0	0	0
SNX33	257364	broad.mit.edu	37	15	75942185	75942185	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:75942185A>G	uc002bau.2	+	1	838	c.742A>G	c.(742-744)AGC>GGC	p.S248G	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	248	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GGGCATCAAAAGCTACATCTC	0.547		NA											12	212					0	0	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923490	78923490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:78923490C>T	uc002bed.1	-	4	399	c.287G>A	c.(286-288)CGC>CAC	p.R96H	CHRNB4_uc002bee.1_Missense_Mutation_p.R96H|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	96	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ACCCTCGTAGCGGGAGCTGTT	0.577		NA											27	72					0	0	0	0
UNC45A	55898	broad.mit.edu	37	15	91479661	91479661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:91479661C>T	uc002bqg.2	+	4	737	c.397C>T	c.(397-399)CGG>TGG	p.R133W	UNC45A_uc002bqd.2_Missense_Mutation_p.R118W|UNC45A_uc010uqo.1_Missense_Mutation_p.R125W|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.R133W	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	133					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGGCCTTGCGGAACATCGG	0.582		NA											31	36					0	0	0	0
KIAA0556	23247	broad.mit.edu	37	16	27765493	27765493	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:27765493G>A	uc002dow.2	+	18	3577	c.3553_splice	c.e18-1	p.I1185_splice		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247											ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCCATGTGCAGATCCCGGAGC	0.562		NA											31	30					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66975087	66975087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:66975087C>T	uc002eqr.2	+	6	2069	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	CES2_uc002eqq.2_Missense_Mutation_p.R357W|CES2_uc002eqs.2_Missense_Mutation_p.R200W	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGGCTGCCTGCGGGGCAAGAG	0.572		NA											3	43					0	0	0	0
ELMO3	79767	broad.mit.edu	37	16	67234109	67234109	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:67234109G>A	uc002esa.2	+	5	460	c.417G>A	c.(415-417)GAG>GAA	p.E139E	ELMO3_uc002esb.2_Silent_p.E122E|ELMO3_uc002esc.2_5'UTR	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	86					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGAGGCTGAGCAGCTCTTGG	0.642		NA											7	7					0	0	0	0
MNT	4335	broad.mit.edu	37	17	2290453	2290453	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:2290453G>C	uc002fur.2	-	6	1743	c.1491C>G	c.(1489-1491)ACC>ACG	p.T497T		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	497					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CATGGTTGAGGGTGGCAGGGT	0.682		NA											7	5					0	0	0	0
ANKFY1	51479	broad.mit.edu	37	17	4098291	4098291	+	Missense_Mutation	SNP	C	C	T	rs147745463	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:4098291C>T	uc002fxq.1	-	10	1392	c.1354G>A	c.(1354-1356)GCA>ACA	p.A452T	ANKFY1_uc002fxn.2_Missense_Mutation_p.A494T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A452T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A451T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A393T|ANKFY1_uc002fxr.2_Missense_Mutation_p.A452T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	452						endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GTGTCAGGTGCGTCTGTGTGG	0.572		NA											14	31					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:7577534C>A	uc002gim.2	-	7	941	c.747G>T	c.(745-747)AGG>AGT	p.R249S	TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(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)		TGAGGATGGGCCTCCGGTTCA	0.572		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)			38	19					7.63e-17	9.22e-17	1	0
MYH10	4628	broad.mit.edu	37	17	8383589	8383589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:8383589C>A	uc002gll.2	-	38	5439	c.5343G>T	c.(5341-5343)CAG>CAT	p.Q1781H	MYH10_uc002glm.2_Missense_Mutation_p.Q1812H|MYH10_uc010cnx.2_Missense_Mutation_p.Q1790H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1781	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TGTCACTCTTCTGGGCGGCGC	0.592		NA											33	71					1.57e-24	1.93e-24	1	0
FLCN	201163	broad.mit.edu	37	17	17120410	17120410	+	Silent	SNP	G	G	A	rs150752548		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:17120410G>A	uc002gra.3	-	10	1653	c.1149C>T	c.(1147-1149)CTC>CTT	p.L383L	PLD6_uc010cpn.2_RNA	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	383					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CTGACTGGACGAGGTCCACGT	0.567		NA							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				12	29					0	0	0	0
PIGS	94005	broad.mit.edu	37	17	26882020	26882020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:26882020G>C	uc002hbo.2	-	11	1614	c.1241C>G	c.(1240-1242)ACG>AGG	p.T414R	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.T406R|PIGS_uc010wap.1_Missense_Mutation_p.T353R	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	414	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					CCCTTCACTCGTAGGCCCTGA	0.592		NA											18	25					0	0	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537590	28537590	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:28537590C>T	uc002hey.3	-	11	1936	c.1392G>A	c.(1390-1392)CGG>CGA	p.R464R	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	464	Helical; Name=9; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CGAGCACGAACCGCTCCCGGC	0.597		NA											12	48					0	0	0	0
CACNB1	782	broad.mit.edu	37	17	37347836	37347836	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37347836T>C	uc002hrm.1	-	3	335	c.182A>G	c.(181-183)GAG>GGG	p.E61G	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.E61G|CACNB1_uc002hro.2_Missense_Mutation_p.E61G|CACNB1_uc002hrp.1_Missense_Mutation_p.E61G|CACNB1_uc010web.1_Missense_Mutation_p.E14G	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	61					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGTGTAGGACTCCGCTGAGCC	0.597		NA											11	23					0	0	0	0
GRB7	2886	broad.mit.edu	37	17	37899470	37899470	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37899470G>T	uc002hsr.2	+	5	751	c.501G>T	c.(499-501)GTG>GTT	p.V167V	GRB7_uc002hss.2_Silent_p.V167V|GRB7_uc010cwc.2_Silent_p.V167V|GRB7_uc002hst.2_Silent_p.V167V	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	167	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTGGAAGTGCAGGCTGCCT	0.582		NA											8	82					2.18e-05	2.41e-05	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:39261731G>C	uc010wfp.1	+	1	91	c.91G>C	c.(91-93)GAG>CAG	p.E31Q		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament					0						CAGCTGCTGTGAGACCACCTG	0.637		NA											4	37					0	0	0	0
KLHL10	317719	broad.mit.edu	37	17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:39994252C>T	uc010cxr.2	+	1	210	c.68C>T	c.(67-69)GCG>GTG	p.A23V	NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Missense_Mutation_p.A23V|KLHL10_uc010wfw.1_5'UTR	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	23						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562		NA											38	73					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65186378	65186378	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:65186378T>G	uc010wqk.1	-	10	838	c.651A>C	c.(649-651)TCA>TCC	p.S217S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.S217S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTATCAGCCGTGAAGCATATC	0.393		NA											12	50					0	0	0	0
OTOP2	92736	broad.mit.edu	37	17	72929559	72929559	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:72929559C>T	uc010wrp.1	+	8	1697	c.1608C>T	c.(1606-1608)ATC>ATT	p.I536I	OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	536	Helical; (Potential).					integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCGGTCATCGTCAACATCT	0.592		NA											15	77					0	0	0	0
ZNF750	79755	broad.mit.edu	37	17	80790003	80790003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:80790003C>G	uc002kga.2	-	2	639	c.328G>C	c.(328-330)GAC>CAC	p.D110H	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	110						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTTGATGTCTTCCCTGGCA	0.612		NA											9	55					0	0	0	0
ZNF521	25925	broad.mit.edu	37	18	22806653	22806653	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:22806653C>A	uc002kvk.2	-	4	1476	c.1229G>T	c.(1228-1230)TGC>TTC	p.C410F	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C410F|ZNF521_uc002kvl.2_Missense_Mutation_p.C190F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	410	C2H2-type 9; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTTGTTGCAGTAAATACA	0.438		NA	T	PAX5	ALL								27	44					6.33e-13	7.49e-13	1	0
CDH2	1000	broad.mit.edu	37	18	25589801	25589801	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:25589801C>A	uc002kwg.2	-	5	1041	c.582G>T	c.(580-582)CGG>CGT	p.R194R	CDH2_uc010xbn.1_Silent_p.R163R	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	194	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TTACACTGTACCGCAGTGAAA	0.483		NA											28	44					1.77e-15	2.12e-15	1	0
KLHL14	57565	broad.mit.edu	37	18	30350122	30350122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:30350122C>T	uc002kxm.1	-	2	821	c.433G>A	c.(433-435)GCC>ACC	p.A145T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	145	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GTCACGTTGGCCGTGTAGAGG	0.637		NA											38	130					0	0	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432045	4432045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:4432045C>T	uc002mal.2	+	12	2144	c.2044C>T	c.(2044-2046)CAA>TAA	p.Q682*		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	682	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGTCCTGCAACCTGTGAA	0.602		NA						Chromatin_Structure					25	56					0	0	0	0
OR7E24	26648	broad.mit.edu	37	19	9361989	9361989	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:9361989T>G	uc002mlb.1	+	1	270	c.270T>G	c.(268-270)GGT>GGG	p.G90G		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	90	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGACATCGGTTTCACCTCCA	0.532		NA											23	27					0	0	0	0
ICAM3	3385	broad.mit.edu	37	19	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:10446518C>T	uc002mob.2	-	3	533	c.478G>A	c.(478-480)GAG>AAG	p.E160K	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.E83K|ICAM3_uc010xlf.1_Missense_Mutation_p.E83K	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	160	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CGGCTCAGCTCCTCCTCCCAG	0.677		NA											3	10					0	0	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587132	15587132	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:15587132A>T	uc002nbf.3	-	2	482	c.349T>A	c.(349-351)TCG>ACG	p.S117T	PGLYRP2_uc002nbg.3_Missense_Mutation_p.S117T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	117					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GCCACGGTCGAGCCATCAGGT	0.627		NA											43	68					0	0	0	0
DDX49	54555	broad.mit.edu	37	19	19035702	19035702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19035702T>A	uc002nkq.1	+	9	998	c.941T>A	c.(940-942)ATC>AAC	p.I314N	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.I207N|DDX49_uc002nkt.1_3'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	314	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			GGCCTGGACATCCCTACGGTA	0.637		NA											23	27					0	0	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369367	19369367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19369367C>T	uc002nmb.2	-	4	837	c.782G>A	c.(781-783)CGC>CAC	p.R261H	HAPLN4_uc002nmc.2_Missense_Mutation_p.R261H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	261	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			GGCGTCGTAGCGTTCCTCGGC	0.687		NA											20	24					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728176	20728176	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:20728176A>T	uc002npa.2	-	4	1013	c.833T>A	c.(832-834)ATT>AAT	p.I278N		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TCCAGTATGAATTATCTTATG	0.408		NA											14	18					0	0	0	0
ZNF573	126231	broad.mit.edu	37	19	38262306	38262306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:38262306C>T	uc002ohe.2	-	2	122	c.100G>A	c.(100-102)GCC>ACC	p.A34T	ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.2_Missense_Mutation_p.A32T|ZNF573_uc002ohf.2_5'UTR|ZNF573_uc002ohg.2_5'UTR	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AAGTCTATGGCCACATCCCTG	0.408		NA											6	22					0	0	0	0
FUT2	2524	broad.mit.edu	37	19	49206855	49206855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49206855G>C	uc002pke.3	+	2	753	c.642G>C	c.(640-642)AAG>AAC	p.K214N	FUT2_uc010emc.2_Missense_Mutation_p.K214N	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	fucosyltransferase 2	214	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			central_nervous_system(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627		NA											34	54					0	0	0	0
BRSK1	84446	broad.mit.edu	37	19	55805723	55805723	+	Silent	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:55805723A>C	uc002qkg.2	+	7	913	c.636A>C	c.(634-636)GCA>GCC	p.A212A	BRSK1_uc002qkf.2_Silent_p.A228A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	212	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGCCGGGCAGACATGTGGA	0.587		NA											10	24					0	0	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988170	135988170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:135988170C>G	uc002tum.2	-	13	1984	c.1867G>C	c.(1867-1869)GAG>CAG	p.E623Q	ZRANB3_uc002tuk.2_Missense_Mutation_p.E166Q|ZRANB3_uc002tul.2_Missense_Mutation_p.E623Q	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	623	RanBP2-type.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGCCAGCCCTCTACAGGAAAG	0.488		NA											21	35					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	137814502	137814502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:137814502C>A	uc002tva.1	+	2	559	c.559C>A	c.(559-561)CCA>ACA	p.P187T	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.P77T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTGCAATGTCCAAATCTGAC	0.478		NA											58	136					1.22e-34	1.5e-34	1	0
KIF5C	3800	broad.mit.edu	37	2	149847689	149847689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:149847689G>T	uc010zbu.1	+	16	2250	c.1882G>T	c.(1882-1884)GCC>TCC	p.A628S	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.A180S	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	628					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGCTGGCAGCCTGCCAGCT	0.587		NA											6	16					3.6e-05	3.97e-05	1	0
KCNH7	90134	broad.mit.edu	37	2	163374317	163374317	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:163374317C>A	uc002uch.1	-	4	1027	c.815G>T	c.(814-816)AGA>ATA	p.R272I	KCNH7_uc002uci.2_Missense_Mutation_p.R272I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	272	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CGAAGATGCTCTCCGTATACT	0.458		NA											5	53					5.94e-07	6.68e-07	1	0
LRP2	4036	broad.mit.edu	37	2	169989168	169989168	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:169989168A>G	uc002ues.2	-	77	13857	c.13644T>C	c.(13642-13644)GAT>GAC	p.D4548D		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4548	Cytoplasmic (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTCTTATTATCCACATTTT	0.383		NA											25	52					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731223	185731223	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:185731223A>G	uc002uph.2	+	2	833	c.239A>G	c.(238-240)GAC>GGC	p.D80G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	80	C2H2-type.					intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AATTCATATGACCATGCTCAC	0.358		NA											15	74					0	0	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428622	190428622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:190428622G>A	uc002uqp.3	-	7	1441	c.1090C>T	c.(1090-1092)CGT>TGT	p.R364C		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	364					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CATTTTCGACGTAGCCAAGTA	0.468		NA											18	111					0	0	0	0
CUL3	8452	broad.mit.edu	37	2	225368470	225368470	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:225368470C>G	uc002vny.2	-	9	1660	c.1276G>C	c.(1276-1278)GAT>CAT	p.D426H	CUL3_uc010zls.1_Missense_Mutation_p.D360H|CUL3_uc010fwy.1_Missense_Mutation_p.D432H	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	426					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294		NA											7	4					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10620273	10620273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:10620273G>A	uc002wnw.2	-	26	4046	c.3530C>T	c.(3529-3531)ACG>ATG	p.T1177M		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1177	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GTCTACCAGCGTGTACGCCGG	0.507		NA							Alagille_Syndrome				82	41					0	0	0	0
BTBD3	22903	broad.mit.edu	37	20	11903683	11903683	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:11903683T>A	uc002wnz.2	+	4	1297	c.938T>A	c.(937-939)CTA>CAA	p.L313Q	BTBD3_uc002wny.2_Missense_Mutation_p.L252Q|BTBD3_uc002woa.2_Missense_Mutation_p.L252Q|BTBD3_uc010zrf.1_Missense_Mutation_p.L162Q|BTBD3_uc010zrg.1_Missense_Mutation_p.L162Q|BTBD3_uc010zrh.1_Missense_Mutation_p.L162Q	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	313										ovary(2)|central_nervous_system(1)	3						CGCAAGGTTCTAGGAAAGGCA	0.463		NA											37	37					0	0	0	0
CST9L	128821	broad.mit.edu	37	20	23545618	23545618	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:23545618G>C	uc002wtk.3	-	3	710	c.411C>G	c.(409-411)CTC>CTG	p.L137L		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	137						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCTTGTTCAGGAGGCTGAACT	0.552		NA											21	19					0	0	0	0
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:34090746C>A	uc002xcm.2	+	31	5220	c.4549C>A	c.(4549-4551)CGG>AGG	p.R1517R	CEP250_uc010zve.1_Silent_p.R885R	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1517	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512		NA											14	16					0.000151284	0.000164422	1	0
SYNJ1	8867	broad.mit.edu	37	21	34099218	34099218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:34099218C>T	uc002yqh.2	-	2	106	c.106G>A	c.(106-108)GAA>AAA	p.E36K	SYNJ1_uc011ads.1_5'UTR|SYNJ1_uc002yqf.2_5'UTR|SYNJ1_uc002yqg.2_5'UTR|SYNJ1_uc002yqi.2_Missense_Mutation_p.E36K|uc002yqj.1_5'Flank|uc002yqk.2_5'Flank	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	Error:Variant_position_missing_in_O43426_after_alignment							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CTCCTTTCTTCGGAGGCAGCC	0.488		NA											24	46					0	0	0	0
RIPK4	54101	broad.mit.edu	37	21	43166824	43166824	+	Missense_Mutation	SNP	G	G	A	rs67846875		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:43166824G>A	uc002yzn.1	-	5	829	c.781C>T	c.(781-783)CTC>TTC	p.L261F		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	261						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CGCTGCATGAGGCGTATCAGG	0.672		NA											22	42					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47841931	47841931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:47841931C>G	uc002zji.3	+	32	7179	c.7072C>G	c.(7072-7074)CCT>GCT	p.P2358A	PCNT_uc002zjj.2_Missense_Mutation_p.P2240A	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2358					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTCAGGAGGCCCTGAGGCTCA	0.612		NA											22	49					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36701124	36701124	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:36701124G>T	uc003apg.2	-	18	2415	c.2184C>A	c.(2182-2184)TCC>TCA	p.S728S	MYH9_uc003aph.1_Silent_p.S592S	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	728	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTTGGGAATGGAGTTTGGAG	0.537		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				20	45					2.38e-13	2.82e-13	1	0
NDUFA6	4700	broad.mit.edu	37	22	42482286	42482286	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:42482286T>C	uc003bcb.2	-	3	428	c.366A>G	c.(364-366)GTA>GTG	p.V122V		NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	GCTGCTTCCATACTTTAATTG	0.383		NA											28	59					0	0	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917176	42917176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:42917176G>T	uc003cmh.2	-	1	458	c.133C>A	c.(133-135)CAT>AAT	p.H45N	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.H45N	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	45					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCCATGGCATGGCCAAGCCAG	0.577		NA											28	25					7.26e-15	8.67e-15	1	0
CELSR3	1951	broad.mit.edu	37	3	48694603	48694603	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:48694603G>A	uc003cul.2	-	2	4208	c.3927C>T	c.(3925-3927)GAC>GAT	p.D1309D	CELSR3_uc003cuf.1_Silent_p.D1379D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1309	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGAAGACGTCCTCAGCGG	0.657		NA											9	14					0	0	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569270	99569270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:99569270A>C	uc003dtm.2	-	5	1713	c.1250T>G	c.(1249-1251)GTT>GGT	p.V417G	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.V417G|FILIP1L_uc010hpf.2_5'UTR|FILIP1L_uc010hpg.2_Missense_Mutation_p.V177G|FILIP1L_uc003dtn.2_Missense_Mutation_p.V177G|FILIP1L_uc003dtp.1_Missense_Mutation_p.V177G	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	417	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						GAGTTTTTCAACCTCTAGTTT	0.368		NA											45	46					0	0	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101283915	101283915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:101283915T>G	uc003duz.2	+	2	438	c.290T>G	c.(289-291)TTC>TGC	p.F97C		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	97					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						ACCAGAGAGTTCATTGAGATG	0.403		NA											14	60					0	0	0	0
SNX4	8723	broad.mit.edu	37	3	125172710	125172710	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:125172710T>C	uc003eib.2	-	12	1176	c.1134A>G	c.(1132-1134)CTA>CTG	p.L378L	SNX4_uc011bkf.1_Silent_p.L233L	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	378					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TTTGTTCTTCTAGCACCTTTA	0.393		NA											20	46					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130283910	130283910	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:130283910T>C	uc010htl.2	+	3	765	c.734T>C	c.(733-735)TTT>TCT	p.F245S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	245	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAGGAGAACTTTGACTATCTT	0.418		NA											43	83					0	0	0	0
IL20RB	53833	broad.mit.edu	37	3	136708366	136708366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:136708366G>C	uc003eri.1	+	4	739	c.490G>C	c.(490-492)GAG>CAG	p.E164Q	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Missense_Mutation_p.E22Q	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	164	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(1)	1						GCCCCAGTTTGAGTTCCTTGT	0.567		NA											12	39					0	0	0	0
COPB2	9276	broad.mit.edu	37	3	139092255	139092255	+	Splice_Site	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:139092255C>A	uc003etf.3	-	9	1025	c.895_splice	c.e9-1	p.L299_splice	COPB2_uc011bmv.1_Splice_Site_p.L270_splice|COPB2_uc010hui.2_Splice_Site_p.L270_splice	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						CCCGACCAAGCTGAAAGAAAG	0.408		NA											9	29					3.1e-07	3.51e-07	1	0
SGEF	26084	broad.mit.edu	37	3	153840472	153840472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:153840472C>G	uc011bog.1	+	2	902	c.691C>G	c.(691-693)CCT>GCT	p.P231A	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.P231A	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	231					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTCGAGAATCCTTCCGTGGT	0.542		NA											12	16					0	0	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551699	155551699	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:155551699T>C	uc003fan.3	-	3	1476	c.1095A>G	c.(1093-1095)AAA>AAG	p.K365K	SLC33A1_uc003fao.1_Silent_p.K365K	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	365	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCAGTGTATTTGCTGATAA	0.388		NA											16	38					0	0	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747722	167747722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:167747722G>C	uc003ffe.2	-	10	1623	c.1279C>G	c.(1279-1281)CTG>GTG	p.L427V	GOLIM4_uc011bpe.1_Missense_Mutation_p.L427V|GOLIM4_uc011bpf.1_Missense_Mutation_p.L399V|GOLIM4_uc011bpg.1_Missense_Mutation_p.L399V	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	427	Glu-rich.|Gln-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						tgttcccgcagctgctgGGCC	0.308		NA											30	112					0	0	0	0
KLHL24	54800	broad.mit.edu	37	3	183369021	183369021	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:183369021A>G	uc003flv.2	+	3	1172	c.877A>G	c.(877-879)ATA>GTA	p.I293V	KLHL24_uc003flw.2_Missense_Mutation_p.I293V|KLHL24_uc003flx.2_Missense_Mutation_p.I293V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	293						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACGGTACCACATACTTGGGAA	0.388		NA											13	48					0	0	0	0
TBCK	93627	broad.mit.edu	37	4	107165855	107165855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:107165855C>G	uc010ilv.2	-	11	1363	c.998G>C	c.(997-999)GGA>GCA	p.G333A	TBCK_uc003hyb.2_Missense_Mutation_p.G76A|TBCK_uc003hye.2_Missense_Mutation_p.G294A|TBCK_uc003hyc.2_Missense_Mutation_p.G270A|TBCK_uc003hyd.2_Missense_Mutation_p.G161A|TBCK_uc003hyf.2_Missense_Mutation_p.G333A	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	333						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CAAGTCACCTCCAGCCAAACA	0.363		NA											18	12					0	0	0	0
PRSS48	345062	broad.mit.edu	37	4	152201007	152201007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:152201007C>T	uc011cif.1	+	2	112	c.112C>T	c.(112-114)CGC>TGC	p.R38C	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	38	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TGCTGCAGGGCGCTGGCCTTG	0.527		NA											28	30					0	0	0	0
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	rs121909606		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:155510666G>A	uc003iod.1	-	2	161	c.103C>T	c.(103-105)CGT>TGT	p.R35C	FGA_uc003ioe.1_Missense_Mutation_p.R35C|FGA_uc003iof.1_Missense_Mutation_p.R35C	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTGGGCCACGCACGCCTCCT	0.493		NA											42	19					0	0	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461761	5461761	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:5461761A>G	uc003jdm.3	+	13	2536	c.2314A>G	c.(2314-2316)ATA>GTA	p.I772V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	772										ovary(1)|central_nervous_system(1)	2						CACATCATTAATAGGTTCTCA	0.388		NA											9	22					0	0	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324299	128324299	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:128324299C>T	uc003kuy.2	+	4	1088	c.692C>T	c.(691-693)CCA>CTA	p.P231L	SLC27A6_uc003kuz.2_Missense_Mutation_p.P231L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	231	AMP (Potential).			P -> S (in Ref. 3; CAG33410).	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CCAGGTCTACCAAAAGCAGCT	0.318		NA											30	32					0	0	0	0
WNT8A	7478	broad.mit.edu	37	5	137426396	137426396	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:137426396C>T	uc003lcd.1	+	6	695	c.690C>T	c.(688-690)AGC>AGT	p.S230S	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.S248S|WNT8A_uc011cyk.1_Silent_p.S248S	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	230					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGGAACAGCGCCGAGGGCC	0.542		NA											19	28					0	0	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175998	140175998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140175998C>A	uc003lhd.2	+	1	1555	c.1449C>A	c.(1447-1449)GAC>GAA	p.D483E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D483E|PCDHA2_uc011czy.1_Missense_Mutation_p.D483E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	483	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGCGGACGCGCAGGAGA	0.657		NA											38	82					7.05e-23	8.59e-23	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182672	140182672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140182672G>T	uc003lhf.2	+	1	1890	c.1890G>T	c.(1888-1890)GAG>GAT	p.E630D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.E630D	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	630	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGGAGAGATCAGCACGA	0.657		NA											22	56					2.89e-11	3.4e-11	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750142	140750142	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140750142T>G	uc003ljw.1	+	1	181	c.181T>G	c.(181-183)TTA>GTA	p.L61V	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_uc011dat.1_Missense_Mutation_p.L61V	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	61	Extracellular (Potential).|Cadherin 1.				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)			CGTGGGGGATTTACCTACTAG	0.557		NA											6	142					0	0	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140779261	140779261	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140779261A>T	uc003lkf.1	+	1	1567	c.1567A>T	c.(1567-1569)ACC>TCC	p.T523S	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_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.T523S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	523	Extracellular (Potential).|Cadherin 5.				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)			GCAGCTGCGCACCTTCGAACT	0.647		NA											10	24					0	0	0	0
GLRA1	2741	broad.mit.edu	37	5	151202317	151202317	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:151202317A>C	uc003lut.2	-	9	1578	c.1291T>G	c.(1291-1293)TTC>GTC	p.F431V	GLRA1_uc003lur.2_Missense_Mutation_p.F423V|GLRA1_uc003lus.2_Missense_Mutation_p.F340V	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	431	Helical; (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGGGGAAGCCAATGCGG	0.507		NA											26	42					0	0	0	0
MICB	4277	broad.mit.edu	37	6	31473459	31473459	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:31473459C>A	uc003ntn.3	+	2	252	c.136C>A	c.(136-138)CTC>ATC	p.L46I	MICB_uc011dnm.1_Missense_Mutation_p.L14I|MICB_uc003nto.3_Missense_Mutation_p.L46I	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	46	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						GTCAGGGTTTCTCGCTGAGGG	0.562		NA											27	19					2.44e-19	2.96e-19	1	0
CYP21A2	1589	broad.mit.edu	37	6	31974427	31974427	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:31974427G>A	uc010jtp.2	+	5	596	c.478G>A	c.(478-480)GCC>ACC	p.A160T	CYP21A2_uc011dpb.1_Missense_Mutation_p.A130T			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	159					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CACCCCTGTGGCCATTGAGGA	0.627		NA											11	11					0	0	0	0
UBR2	23304	broad.mit.edu	37	6	42603184	42603184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:42603184G>A	uc011dur.1	+	14	1574	c.1574G>A	c.(1573-1575)GGA>GAA	p.G525E	UBR2_uc011dus.1_Missense_Mutation_p.G170E|UBR2_uc010jxv.1_Missense_Mutation_p.G29E|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	525					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGTCAAGTAGGACAACATATT	0.348		NA											16	10					0	0	0	0
GPR115	221393	broad.mit.edu	37	6	47682615	47682615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:47682615G>C	uc003oza.1	+	6	1892	c.1634G>C	c.(1633-1635)AGA>ACA	p.R545T	GPR115_uc003oyz.1_Missense_Mutation_p.R602T|GPR115_uc003ozb.1_Missense_Mutation_p.R543T	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	545	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GGCTACATGAGACCTGAGGCC	0.483		NA											40	166					0	0	0	0
DST	667	broad.mit.edu	37	6	56716396	56716396	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:56716396C>A	uc003pdf.2	-	4	452	c.424G>T	c.(424-426)GGG>TGG	p.G142W	DST_uc011dxj.1_5'UTR|DST_uc011dxk.1_Missense_Mutation_p.G4W|DST_uc011dxl.1_5'UTR	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					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)			GACGCGTTCCCGGAACTCTAC	0.502		NA									OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					3.86e-05	4.25e-05	1	0
COL12A1	1303	broad.mit.edu	37	6	75851809	75851809	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:75851809G>A	uc003phs.2	-	27	5062	c.4896C>T	c.(4894-4896)GTC>GTT	p.V1632V	COL12A1_uc003pht.2_Silent_p.V468V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1632	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CAGAAACGCTGACTGTGTACA	0.493		NA											47	61					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112493962	112493962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:112493962G>C	uc003pvu.2	-	12	1711	c.1402C>G	c.(1402-1404)CGC>GGC	p.R468G	LAMA4_uc003pvv.2_Missense_Mutation_p.R461G|LAMA4_uc003pvt.2_Missense_Mutation_p.R461G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	468	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACAGAGTGCGGGTCTCATTG	0.527		NA											4	29					0	0	0	0
GJA1	2697	broad.mit.edu	37	6	121768632	121768632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:121768632G>T	uc003pyr.2	+	2	889	c.639G>T	c.(637-639)ATG>ATT	p.M213I	GJA1_uc011ebo.1_Missense_Mutation_p.M114I|GJA1_uc011ebp.1_Missense_Mutation_p.M1I	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	213	Helical; (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCATCTTCATGCTGGTGGTGT	0.488		NA											47	78					2.28e-18	2.76e-18	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44801094	44801094	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:44801094T>C	uc003tlr.2	+	10	1410	c.1287T>C	c.(1285-1287)GAT>GAC	p.D429D	ZMIZ2_uc003tlq.2_Silent_p.D371D|ZMIZ2_uc003tls.2_Silent_p.D403D|ZMIZ2_uc003tlt.2_Silent_p.D52D|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CTGTGCGCGATGGGGTGGTCC	0.612		NA											5	80					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45697403	45697403	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:45697403T>A	uc003tne.3	+	6	1244	c.1226T>A	c.(1225-1227)CTG>CAG	p.L409Q	ADCY1_uc003tnd.2_Missense_Mutation_p.L184Q	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	409	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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGGTGTCCTGGGCTTGCGC	0.602		NA											10	18					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63679786	63679786	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:63679786A>G	uc011kdn.1	+	4	357	c.357A>G	c.(355-357)GGA>GGG	p.G119G		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAAATGTGGACATGAGAATT	0.348		NA											22	30					0	0	0	0
ACN9	57001	broad.mit.edu	37	7	96747113	96747113	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:96747113C>T	uc003uoo.3	+	1	1209	c.78C>T	c.(76-78)GAC>GAT	p.D26D		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	ACN9 homolog precursor	26					regulation of gluconeogenesis	mitochondrial intermembrane space					0	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TGCCCCCGGACCTCAAATCCC	0.597		NA											16	58					0	0	0	0
ZNF394	84124	broad.mit.edu	37	7	99091989	99091989	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:99091989A>G	uc003uqs.2	-	3	1010	c.849T>C	c.(847-849)AAT>AAC	p.N283N	ZNF394_uc003uqt.2_Silent_p.N76N	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAATTCATTATTTTTAGAGT	0.458		NA											9	103					0	0	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106781395	106781395	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:106781395A>T	uc003vdx.2	+	5	759	c.584A>T	c.(583-585)GAT>GTT	p.D195V		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	195	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						TATGTAATTGATAGGTAAGTT	0.348		NA											15	28					0	0	0	0
AHCYL2	23382	broad.mit.edu	37	7	129043233	129043233	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:129043233G>C	uc011kov.1	+	7	986	c.932G>C	c.(931-933)GGA>GCA	p.G311A	AHCYL2_uc003vot.2_Missense_Mutation_p.G310A|AHCYL2_uc003vov.2_Missense_Mutation_p.G208A|AHCYL2_uc011kow.1_Missense_Mutation_p.G209A|AHCYL2_uc011kox.1_Missense_Mutation_p.G208A	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	311					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						TTGGATGATGGAGGGGATCTT	0.403		NA											30	54					0	0	0	0
PARP12	64761	broad.mit.edu	37	7	139727186	139727186	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:139727186G>T	uc003vvl.1	-	10	2392	c.1518C>A	c.(1516-1518)TCC>TCA	p.S506S	PARP12_uc003vvk.1_Silent_p.S292S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					ACTCTTCCGAGGAAGAACTAA	0.448		NA											19	55					2.94e-08	3.38e-08	1	0
ESCO2	157570	broad.mit.edu	37	8	27657230	27657230	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:27657230T>G	uc003xgg.2	+	10	1753	c.1670T>G	c.(1669-1671)CTC>CGC	p.L557R	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	557					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTGATACCCTCAGGTAAGAA	0.428		NA							SC_Phocomelia_syndrome				26	53					0	0	0	0
ADAM32	203102	broad.mit.edu	37	8	39022614	39022614	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:39022614G>T	uc003xmt.3	+	9	977	c.732G>T	c.(730-732)AAG>AAT	p.K244N	ADAM32_uc011lch.1_Missense_Mutation_p.K251N|ADAM32_uc003xmu.3_Missense_Mutation_p.K244N	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	244	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)			ATGAAAATAAGATTTCTACAG	0.303		NA											22	32					7.88e-14	9.37e-14	1	0
ZMAT4	79698	broad.mit.edu	37	8	40554847	40554847	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:40554847A>G	uc003xnr.2	-	4	412	c.266T>C	c.(265-267)GTG>GCG	p.V89A	ZMAT4_uc003xns.2_Missense_Mutation_p.V89A	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	89	Matrin-type 2.					nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GGAATCGGCCACCACCGCTGA	0.502		NA											23	62					0	0	0	0
SULF1	23213	broad.mit.edu	37	8	70517085	70517085	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:70517085C>G	uc010lza.1	+	13	2012	c.1295C>G	c.(1294-1296)TCA>TGA	p.S432*	SULF1_uc003xyd.2_Nonsense_Mutation_p.S432*|SULF1_uc003xye.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyf.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyg.2_Nonsense_Mutation_p.S432*|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	432					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATCCAACAGTCAAATCACTTG	0.463		NA											29	49					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100880545	100880545	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:100880545G>A	uc003yiv.2	+	59	11430	c.11319G>A	c.(11317-11319)CCG>CCA	p.P3773P	VPS13B_uc003yiw.2_Silent_p.P3748P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3773					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)			TTGATCAGCCGATGCAGAACT	0.493		NA											17	50					0	0	0	0
DPYS	1807	broad.mit.edu	37	8	105459661	105459661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:105459661T>C	uc003yly.3	-	3	623	c.494A>G	c.(493-495)AAA>AGA	p.K165R		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	165					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)			GTACAGATCTTTATAGGCCAT	0.413		NA											22	70					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487466	110487466	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:110487466A>G	uc003yne.2	+	51	8829	c.8725A>G	c.(8725-8727)ATT>GTT	p.I2909V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2909	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAACCAACATTTCATATAC	0.338		NA								HNSCC(38;0.096)			6	29					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113585824G>A	uc003ynu.2	-	24	4107	c.3948C>T	c.(3946-3948)CGC>CGT	p.R1316R	CSMD3_uc003yns.2_Silent_p.R588R|CSMD3_uc003ynt.2_Silent_p.R1276R|CSMD3_uc011lhx.1_Silent_p.R1212R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1316	Extracellular (Potential).|CUB 7.					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						GTGTCAGTCCGCGCATAGATG	0.353		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	88					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113988125	113988125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113988125C>G	uc003ynu.2	-	7	1442	c.1283G>C	c.(1282-1284)AGA>ACA	p.R428T	CSMD3_uc003ynt.2_Missense_Mutation_p.R388T|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	428	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						ATGTCTTGGTCTTCTCCTGGT	0.453		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	92					0	0	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061386	126061386	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:126061386G>A	uc003yrt.2	-	19	2570	c.2241C>T	c.(2239-2241)ACC>ACT	p.T747T	KIAA0196_uc011lir.1_Silent_p.T599T|KIAA0196_uc003yru.1_Silent_p.T321T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	747					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCCATCCATGGTCGCTCCCA	0.403		NA											16	39					0	0	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141630	133141630	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:133141630A>T	uc003ytj.2	-	15	2723	c.2498T>A	c.(2497-2499)CTC>CAC	p.L833H	KCNQ3_uc010mdt.2_Missense_Mutation_p.L821H|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	833					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)			ACCCTCGGCGAGGTACCGCTT	0.597		NA											8	34					0	0	0	0
CYC1	1537	broad.mit.edu	37	8	145151332	145151332	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:145151332T>C	uc003zaz.3	+	4	589	c.546T>C	c.(544-546)AGT>AGC	p.S182S	CYC1_uc003zay.2_Silent_p.S123S	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	182	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCAACAGTGAGGCTGCTC	0.587		NA									OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029378	21029378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:21029378G>A	uc010miq.1	-	2	104	c.58C>T	c.(58-60)CTT>TTT	p.L20F	PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Missense_Mutation_p.L20F	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	20	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			skin(1)	1				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TAGATGAAAAGATACGCATTC	0.328		NA											23	73					0	0	0	0
KIAA1539	80256	broad.mit.edu	37	9	35107864	35107864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:35107864C>T	uc003zwl.2	-	3	733	c.408G>A	c.(406-408)TGG>TGA	p.W136*	KIAA1539_uc003zwm.2_Nonsense_Mutation_p.W136*|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Nonsense_Mutation_p.W136*|KIAA1539_uc003zwp.1_Nonsense_Mutation_p.W136*|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	136						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCCCGAAGTCCAAGATGAGG	0.617		NA											16	41					0	0	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532554	71532554	+	Missense_Mutation	SNP	C	C	T	rs146846422		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:71532554C>T	uc004agu.2	+	9	1167	c.862C>T	c.(862-864)CCA>TCA	p.P288S	PIP5K1B_uc011lrq.1_Missense_Mutation_p.P288S|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	288	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		GGAGGAGACCCCACAAAATGT	0.473		NA											163	56					0	0	0	0
FAM22G	441457	broad.mit.edu	37	9	99694538	99694538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:99694538G>C	uc004awq.1	+	2	1266	c.551G>C	c.(550-552)GGA>GCA	p.G184A		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	184										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGGGCTCATGGAGAGGGCAGC	0.647		NA											19	110					0	0	0	0
C5	727	broad.mit.edu	37	9	123797114	123797114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:123797114G>C	uc004bkv.2	-	5	581	c.551C>G	c.(550-552)TCT>TGT	p.S184C	C5_uc010mvm.1_Missense_Mutation_p.S184C|C5_uc010mvn.1_Missense_Mutation_p.S184C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	184					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGAAAAGAGATAATTCC	0.353		NA											12	22					0	0	0	0
OTUD5	55593	broad.mit.edu	37	X	48780923	48780923	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:48780923G>T	uc004dlu.2	-	8	1642	c.1581C>A	c.(1579-1581)TCC>TCA	p.S527S	OTUD5_uc004dlt.3_Silent_p.S522S|OTUD5_uc004dlv.2_Silent_p.S522S|OTUD5_uc011mmp.1_Silent_p.S305S	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	527					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						AGGCAGAGGGGGACATCTGCT	0.607		NA											8	3					0.000157383	0.000170602	1	0
ERCC6L	54821	broad.mit.edu	37	X	71426165	71426165	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:71426165A>C	uc004eaq.1	-	2	2549	c.2452T>G	c.(2452-2454)TTT>GTT	p.F818V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.F695V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					ACACTTCCAAACCCCTTTGGT	0.383		NA											23	10					0	0	0	0
LPAR4	2846	broad.mit.edu	37	X	78011180	78011180	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:78011180T>G	uc010nme.2	+	2	1219	c.814T>G	c.(814-816)TAT>GAT	p.Y272D		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	272	Helical; Name=6; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						CCTCTTCTTGTATGCCCTGGT	0.408		NA											21	9					0	0	0	0
ATP1A4	480	broad.mit.edu	37	1	160156092	160156095	+	Frame_Shift_Del	DEL	CCTA	CCTA	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:160156092_160156095delCCTA	uc001fve.3	+	21	3475_3478	c.2996_2999delCCTA	c.(2995-3000)CCCTACfs	p.P999fs	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Frame_Shift_Del_p.P502fs|ATP1A4_uc001fvh.2_Frame_Shift_Del_p.P135fs	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	999_1000	Helical; (Potential).			ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCATTCCCTACAGTATTCTC	0.549		NA											16	615	---	---	---	---	NA	NA	NA	NA
GPR161	23432	broad.mit.edu	37	1	168074064	168074068	+	Frame_Shift_Del	DEL	AGCTG	AGCTG	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:168074064_168074068delAGCTG	uc001gfc.2	-	4	335_339	c.21_25delCAGCT	c.(19-27)CTCAGCTGCfs	p.L7fs	GPR161_uc001gfb.2_Intron|GPR161_uc010pll.1_Intron|GPR161_uc010plm.1_Intron|GPR161_uc009wvo.2_Frame_Shift_Del_p.L24fs|GPR161_uc001gfd.2_Frame_Shift_Del_p.L7fs|GPR161_uc010pln.1_Frame_Shift_Del_p.L27fs|GPR161_uc001gfe.1_Frame_Shift_Del_p.L7fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	7_9	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					TCCTTCCTGCAGCTGAGGGAGGAGT	0.561		NA											22	892	---	---	---	---	NA	NA	NA	NA
MUC6	4588	broad.mit.edu	37	11	1016769	1016771	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1016769_1016771delGGT	uc001lsw.2	-	31	6081_6083	c.6030_6032delACC	c.(6028-6033)CCACCT>CCT	p.2010_2011PP>P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2010_2011	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGAGAAAGGTGGAACGTGAG	0.537		NA											9	1388	---	---	---	---	NA	NA	NA	NA
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:11546856_11546858delAGA	uc010shk.1	-	3	189_191	c.154_156delTCT	c.(154-156)TCTdel	p.S52del		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557		NA											9	397	---	---	---	---	NA	NA	NA	NA
TGM7	116179	broad.mit.edu	37	15	43579612	43579612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:43579612delC	uc001zrf.1	-	6	736	c.731delG	c.(730-732)GGCfs	p.G244fs		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	244					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTAGTCCTCGCCCCAGTTCCC	0.607		NA											17	34	---	---	---	---	NA	NA	NA	NA
HAPLN3	145864	broad.mit.edu	37	15	89424690	89424691	+	Frame_Shift_Del	DEL	GC	GC	-	rs78894646	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:89424690_89424691delGC	uc002bnc.2	-	3	518_519	c.390_391delGC	c.(388-393)TCGCTGfs	p.S130fs	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Frame_Shift_Del_p.S192fs	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	130_131	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGATCTCCAGCGAGACGTCAT	0.629		NA											32	142	---	---	---	---	NA	NA	NA	NA
SYNRG	11276	broad.mit.edu	37	17	35896099	35896100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:35896099_35896100insA	uc002hoa.2	-	19	3730_3731	c.3647_3648insT	c.(3646-3648)ATGfs	p.M1216fs	SYNRG_uc010wde.1_Frame_Shift_Ins_p.M1138fs|SYNRG_uc010wdf.1_Frame_Shift_Ins_p.M1138fs|SYNRG_uc002hoc.2_Frame_Shift_Ins_p.M1137fs|SYNRG_uc002hoe.2_Frame_Shift_Ins_p.M1138fs|SYNRG_uc002hod.2_Frame_Shift_Ins_p.M1093fs|SYNRG_uc010wdg.1_Frame_Shift_Ins_p.M1010fs|SYNRG_uc002hob.2_Frame_Shift_Ins_p.M1216fs	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1216					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TGGCGAGTGACATGAAGCCGAT	0.46		NA											9	63	---	---	---	---	NA	NA	NA	NA
FTL	2512	broad.mit.edu	37	19	49469858	49469861	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49469858_49469861delACTC	uc002plo.2	+	4	593_596	c.394_397delACTC	c.(394-399)ACTCACfs	p.T132fs	FTL_uc002pln.1_3'UTR	NM_000146	NP_000137	P02792	FRIL_HUMAN	ferritin, light polypeptide	132_133	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTTCCTGGAGACTCACTTCCTAGA	0.525		NA											60	157	---	---	---	---	NA	NA	NA	NA
EHBP1	23301	broad.mit.edu	37	2	63086416	63086417	+	Frame_Shift_Ins	INS	-	-	GACTCAGA			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:63086416_63086417insGACTCAGA	uc002sby.2	+	9	1334_1335	c.852_853insGACTCAGA	c.(850-855)CCTGACfs	p.P284fs	EHBP1_uc010fcp.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002sbx.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002sbz.2_Frame_Shift_Ins_p.P249fs|EHBP1_uc002scb.2_Frame_Shift_Ins_p.P249fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	284_285						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGGAGATCCTGACTCAGAAGG	0.361		NA							Hereditary_Prostate_Cancer				11	54	---	---	---	---	NA	NA	NA	NA
GAB1	2549	broad.mit.edu	37	4	144361302	144361303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:144361302_144361303insT	uc003ije.2	+	6	1711_1712	c.1352_1353insT	c.(1351-1353)AATfs	p.N451fs	GAB1_uc003ijd.2_Frame_Shift_Ins_p.N451fs|GAB1_uc011chq.1_Frame_Shift_Ins_p.N348fs	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	451	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					GTCCCAATGAATCCCAATTCAC	0.351		NA											35	31	---	---	---	---	NA	NA	NA	NA
APC	324	broad.mit.edu	37	5	112173680	112173680	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:112173680delG	uc010jby.2	+	16	2769	c.2389delG	c.(2389-2391)GGTfs	p.G797fs	APC_uc011cvt.1_Frame_Shift_Del_p.G779fs|APC_uc003kpz.3_Frame_Shift_Del_p.G797fs|APC_uc003kpy.3_Frame_Shift_Del_p.G797fs|APC_uc010jbz.2_Frame_Shift_Del_p.G514fs|APC_uc010jca.2_Frame_Shift_Del_p.G97fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	797	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTCTCTATGGTGATTATGT	0.358		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			12	59	---	---	---	---	NA	NA	NA	NA
CAPN6	827	broad.mit.edu	37	X	110490693	110490698	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:110490693_110490698delTCCTCC	uc004epc.1	-	12	1809_1814	c.1641_1646delGGAGGA	c.(1639-1647)AAGGAGGAA>AAA	p.EE548del	CAPN6_uc011msu.1_In_Frame_Del_p.EE293del	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	548_549	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AGAACGGACTTCCTCCTTTCCACATT	0.393		NA											21	26	---	---	---	---	NA	NA	NA	NA
TBL1Y	90665	broad.mit.edu	37	Y	6948772	6948773	+	Splice_Site	INS	-	-	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrY:6948772_6948773insC	uc004frb.2	+	14	1603	c.956_splice	c.e14-1	p.A319_splice	TBL1Y_uc004frc.2_Splice_Site_p.A319_splice|TBL1Y_uc004frd.2_Splice_Site_p.A319_splice|TBL1Y_uc011nap.1_Splice_Site_p.A161_splice	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y						transcription, DNA-dependent						0						CCCTGCTGCAGCCCCCGCCCTT	0.51		NA											34	15	---	---	---	---	NA	NA	NA	NA
