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
CA6	765	broad.mit.edu	37	1	9009363	9009363	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:9009363G>A	uc001apm.2	+	2	145	c.121G>A	c.(121-123)GCC>ACC	p.A41T	CA6_uc009vmn.2_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	41					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCACTACCCCGCCTGTGGGGG	0.597		NA											10	27					0	0	0	0
GPR3	2827	broad.mit.edu	37	1	27721213	27721213	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:27721213T>C	uc001bod.2	+	2	1006	c.911T>C	c.(910-912)GTG>GCG	p.V304A		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	304	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AACCAGGATGTGCAGAAAGTG	0.547		NA											16	226					0	0	0	0
PTCH2	8643	broad.mit.edu	37	1	45293249	45293249	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:45293249C>G	uc010olf.1	-	15	2208	c.2196G>C	c.(2194-2196)AGG>AGC	p.R732S	PTCH2_uc010olg.1_Missense_Mutation_p.R430S	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	732	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGGAGAAGTACCTGAGCTGGG	0.637		NA							Basal_Cell_Nevus_syndrome				9	63					0	0	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377930	60377930	+	Missense_Mutation	SNP	T	T	C	rs55753213		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:60377930T>C	uc001czq.2	-	3	432	c.427A>G	c.(427-429)ACA>GCA	p.T143A		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	143					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)					CTTAGTGCTGTCAGAGTGAAC	0.433		NA											5	61					0	0	0	0
LRIG2	9860	broad.mit.edu	37	1	113636139	113636139	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:113636139A>T	uc001edf.1	+	4	666	c.468A>T	c.(466-468)ATA>ATT	p.I156I	LRIG2_uc009wgn.1_Silent_p.I53I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	156	LRR 4.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAAATATAATATCAGAAATCA	0.333		NA											7	31					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323690	145323690	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:145323690A>G	uc001end.3	+	29	3787	c.3752A>G	c.(3751-3753)GAC>GGC	p.D1251G	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	1176											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.463		NA											6	822					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282261	152282261	+	Missense_Mutation	SNP	G	G	T	rs145738429		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:152282261G>T	uc001ezu.1	-	3	5137	c.5101C>A	c.(5101-5103)CAA>AAA	p.Q1701K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1701	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGAATCTTGTCTGCGCCCA	0.562		NA							Ichthyosis				16	439					6.32e-08	1.59e-07	1	0
SPTA1	6708	broad.mit.edu	37	1	158639216	158639216	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:158639216T>C	uc001fst.1	-	14	2014	c.1815A>G	c.(1813-1815)GCA>GCG	p.A605A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	605	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTTCATCATCTGCCAACTTTT	0.363		NA											16	269					0	0	0	0
DARC	2532	broad.mit.edu	37	1	159175972	159175972	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:159175972C>A	uc001fto.2	+	2	983	c.743C>A	c.(742-744)GCC>GAC	p.A248D	DARC_uc001ftp.3_Missense_Mutation_p.A250D	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	248	Helical; Name=6; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					ATCCTGTGGGCCTGGTTTATT	0.537		NA											16	134					2.23e-06	5.58e-06	1	0
SLC19A2	10560	broad.mit.edu	37	1	169439294	169439294	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:169439294A>G	uc001gge.3	-	3	1142	c.938T>C	c.(937-939)GTG>GCG	p.V313A	SLC19A2_uc001ggf.3_Missense_Mutation_p.V112A	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	313	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					TGTGTAGTTCACAACTTGAAA	0.498		NA											11	114					0	0	0	0
KCTD3	51133	broad.mit.edu	37	1	215777531	215777531	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:215777531T>G	uc001hks.2	+	13	1490	c.1196T>G	c.(1195-1197)GTG>GGG	p.V399G	KCTD3_uc001hkt.2_Missense_Mutation_p.V399G|KCTD3_uc010pub.1_Missense_Mutation_p.V297G|KCTD3_uc009xdn.2_Missense_Mutation_p.V151G	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	399						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GCAGTACGAGTGATTGTACAA	0.453		NA											5	68					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237659885	237659885	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237659885T>C	uc001hyl.1	+	20	2156	c.2036T>C	c.(2035-2037)GTG>GCG	p.V679A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	679	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTGATGGTGGACCACACA	0.493		NA											4	79					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237993897	237993897	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237993897A>G	uc001hyl.1	+	103	14843	c.14723A>G	c.(14722-14724)CAC>CGC	p.H4908R	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4908					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGAAACCCACACTTTACAG	0.463		NA											13	134					0	0	0	0
ITGA8	8516	broad.mit.edu	37	10	15647748	15647748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:15647748G>T	uc001ioc.1	-	19	1945	c.1945C>A	c.(1945-1947)CCT>ACT	p.P649T	ITGA8_uc010qcb.1_Missense_Mutation_p.P634T	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	649	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TTCAAGTCAGGAACACACAGA	0.388		NA											6	31					8.13e-05	0.000198451	1	0
PLXDC2	84898	broad.mit.edu	37	10	20568717	20568717	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:20568717A>G	uc001iqg.1	+	14	2196	c.1559A>G	c.(1558-1560)AAA>AGA	p.K520R	PLXDC2_uc001iqh.1_Missense_Mutation_p.K471R|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	520	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GTTGGAGAGAAAGAAGGCTTT	0.423		NA											3	44					0	0	0	0
CTNNA3	29119	broad.mit.edu	37	10	69407256	69407256	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:69407256G>A	uc009xpn.1	-	2	139	c.16C>T	c.(16-18)CCA>TCA	p.P6S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P6S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P6S|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P18S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	6					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AATGTGATTGGTGTTTCAGCT	0.393		NA											13	105					0	0	0	0
USP54	159195	broad.mit.edu	37	10	75289616	75289616	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75289616A>G	uc001juo.2	-	13	1899	c.1882T>C	c.(1882-1884)TTT>CTT	p.F628L	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.F628L|USP54_uc010qkl.1_Missense_Mutation_p.F628L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	628					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GGTCCACCAAATTTAATGTCG	0.483		NA									OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	130					0	0	0	0
NDST2	8509	broad.mit.edu	37	10	75567972	75567972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75567972C>T	uc001jvk.2	-	3	979	c.175G>A	c.(175-177)GGG>AGG	p.G59R	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	59	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					CCAGCTGCCCCACCGCTGCTG	0.632		NA											3	16					0	0	0	0
IFIT3	3437	broad.mit.edu	37	10	91098946	91098946	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:91098946T>C	uc001kgf.2	+	2	763	c.534T>C	c.(532-534)ATT>ATC	p.I178I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.I178I	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	178	TPR 4.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						GACTGGCAATTGCGATGTACC	0.458		NA											15	91					0	0	0	0
SORBS1	10580	broad.mit.edu	37	10	97174256	97174256	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:97174256T>A	uc001kkp.2	-	7	850	c.805A>T	c.(805-807)AGT>TGT	p.S269C	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.S269C|SORBS1_uc001kkq.2_Missense_Mutation_p.S200C|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.S237C|SORBS1_uc001kkw.2_Missense_Mutation_p.S269C|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.S467C|SORBS1_uc001kkx.1_Missense_Mutation_p.S237C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	269					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTACGGTACTCGAAACAGCT	0.602		NA											8	47					0	0	0	0
C10orf120	399814	broad.mit.edu	37	10	124459210	124459210	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:124459210T>C	uc001lgn.2	-	1	129	c.97A>G	c.(97-99)ATA>GTA	p.I33V		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	33										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				GTATTAAATATTCTAACTGGC	0.433		NA											15	58					0	0	0	0
OR8H1	219469	broad.mit.edu	37	11	56057819	56057819	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56057819A>G	uc010rje.1	-	1	720	c.720T>C	c.(718-720)TGT>TGC	p.C240C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GATGAGAGGCACAAGTAGACA	0.383		NA											12	60					0	0	0	0
OR5M8	219484	broad.mit.edu	37	11	56258800	56258800	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56258800A>T	uc001nix.1	-	1	47	c.47T>A	c.(46-48)CTG>CAG	p.L16Q		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GCGACTGGTCAGTCCCAGGAG	0.448		NA											17	74					0	0	0	0
OSBP	5007	broad.mit.edu	37	11	59361545	59361545	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:59361545G>T	uc001noc.1	-	8	1975	c.1495C>A	c.(1495-1497)CTT>ATT	p.L499I	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	499					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTCTCCCCAAGCAGTGGGTTG	0.488		NA											4	28					0.000602214	0.00145332	1	0
ZBTB3	79842	broad.mit.edu	37	11	62521078	62521078	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:62521078T>A	uc001nuz.2	-	2	331	c.209A>T	c.(208-210)CAG>CTG	p.Q70L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AAGGAAACCCTGGGACCGCTG	0.592		NA											9	30					0	0	0	0
KDELC2	143888	broad.mit.edu	37	11	108348424	108348424	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:108348424T>C	uc001pkj.2	-	7	1374	c.1308A>G	c.(1306-1308)GAA>GAG	p.E436E	KDELC2_uc001pki.2_Silent_p.E380E	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	436						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTCTTGGCTTCTTCATCAT	0.413		NA											17	71					0	0	0	0
ALG9	79796	broad.mit.edu	37	11	111739396	111739396	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111739396G>A	uc001pmb.2	-	4	433	c.334C>T	c.(334-336)CGC>TGC	p.R112C	ALG9_uc001ply.2_5'UTR|ALG9_uc001plz.2_5'UTR|ALG9_uc010rwm.1_Missense_Mutation_p.R112C|ALG9_uc010rwn.1_Missense_Mutation_p.R66C|ALG9_uc010rwo.1_5'UTR|ALG9_uc009yyh.1_Silent_p.F30F	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	112	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCATAGGAGCGAATGGCATAT	0.433		NA											8	43					0	0	0	0
C11orf1	64776	broad.mit.edu	37	11	111753218	111753218	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111753218A>G	uc001pmd.2	+	2	509	c.172A>G	c.(172-174)ACC>GCC	p.T58A	C11orf1_uc001pme.2_Missense_Mutation_p.T98A	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	hypothetical protein LOC64776	58						nucleus					0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATGGCGATGCACCACTAATGA	0.468		NA											6	40					0	0	0	0
ZNF202	7753	broad.mit.edu	37	11	123597309	123597309	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:123597309T>A	uc001pzd.1	-	9	1743	c.1343A>T	c.(1342-1344)AAG>ATG	p.K448M	ZNF202_uc001pzc.1_Missense_Mutation_p.K224M|ZNF202_uc001pze.1_Missense_Mutation_p.K448M|ZNF202_uc001pzf.1_Missense_Mutation_p.K448M	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	448					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCGTTCATCTTGTGAACCTT	0.468		NA											18	78					0	0	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131282	130131282	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:130131282C>A	uc001qga.2	-	2	881	c.487G>T	c.(487-489)GTG>TTG	p.V163L	ZBTB44_uc001qgb.3_Missense_Mutation_p.V163L|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.V163L|ZBTB44_uc001qfz.2_Missense_Mutation_p.V163L	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCTGAGGACACGGGAGAAATG	0.453		NA											8	42					5.18e-06	1.29e-05	1	0
KDM5A	5927	broad.mit.edu	37	12	464365	464365	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:464365T>C	uc001qif.1	-	7	1192	c.829A>G	c.(829-831)ATG>GTG	p.M277V	KDM5A_uc001qie.1_Missense_Mutation_p.M277V|KDM5A_uc010sdn.1_Missense_Mutation_p.M236V|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	277					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						CTCATTTGCATGTTAAATGCG	0.328		NA	T 	NUP98	AML								10	37					0	0	0	0
C12orf36	283422	broad.mit.edu	37	12	13526327	13526327	+	Silent	SNP	C	C	T	rs146660868		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:13526327C>T	uc001rbs.1	-	3	446	c.228G>A	c.(226-228)GAG>GAA	p.E76E		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473		NA											12	51					0	0	0	0
PTPRO	5800	broad.mit.edu	37	12	15733638	15733638	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:15733638A>G	uc001rcv.1	+	22	3179	c.3005A>G	c.(3004-3006)AAC>AGC	p.N1002S	PTPRO_uc001rcw.1_Missense_Mutation_p.N974S|PTPRO_uc001rcx.1_Missense_Mutation_p.N191S|PTPRO_uc001rcy.1_Missense_Mutation_p.N191S|PTPRO_uc001rcz.1_Missense_Mutation_p.N163S|PTPRO_uc001rda.1_Missense_Mutation_p.N163S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1002	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				CAGGGATACAACTCACCCCAG	0.438		NA											10	30					0	0	0	0
COL2A1	1280	broad.mit.edu	37	12	48367278	48367278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:48367278C>T	uc001rqu.2	-	54	4557	c.4376G>A	c.(4375-4377)CGC>CAC	p.R1459H	COL2A1_uc001rqt.2_Missense_Mutation_p.R240H|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R1390H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1459	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATGGGGAGGCGTGAGGTCTT	0.527		NA											24	56					0	0	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036081	50036081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:50036081C>T	uc001rur.1	+	19	1946	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R650C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R615C|PRPF40B_uc001rus.1_Missense_Mutation_p.R571C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	628					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CAGGATGCGGCGCAGGGAAGC	0.642		NA											8	84					0	0	0	0
KRT1	3848	broad.mit.edu	37	12	53069124	53069124	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:53069124G>A	uc001sau.1	-	9	1847	c.1788C>T	c.(1786-1788)GGC>GGT	p.G596G	KRT1_uc001sav.1_Silent_p.G589G	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	596	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						cagagctgccgccgccgccgc	0.289		NA											9	37					0	0	0	0
ATP5G2	517	broad.mit.edu	37	12	54063126	54063126	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:54063126C>T	uc009znc.2	-	5	819	c.118_splice	c.e5-1	p.S40_splice	ATP5G2_uc001sec.2_Splice_Site_p.S97_splice|ATP5G2_uc001sed.2_Splice_Site_p.S56_splice	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial F0						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			ovary(1)	1						TGCTGAGGCTCTGTGAAAAAG	0.473		NA											3	22					0	0	0	0
C12orf63	374467	broad.mit.edu	37	12	97073479	97073479	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:97073479T>A	uc001tet.1	+	7	1018	c.940T>A	c.(940-942)TCA>ACA	p.S314T		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	314										skin(6)|ovary(1)	7						CCATAACAGATCAATCCGACA	0.443		NA											34	87					0	0	0	0
TCTN1	79600	broad.mit.edu	37	12	111078916	111078916	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:111078916G>C	uc009zvs.2	+	9	1174	c.1066G>C	c.(1066-1068)GTC>CTC	p.V356L	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.V296L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V342L|TCTN1_uc001trn.3_Missense_Mutation_p.V356L|TCTN1_uc001trj.1_Missense_Mutation_p.V300L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	356					multicellular organismal development	extracellular region					0						CAGCGTAGTGGTCCCACTGCA	0.378		NA											16	56					0	0	0	0
TAOK3	51347	broad.mit.edu	37	12	118610455	118610455	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:118610455T>C	uc001twx.2	-	17	2001	c.1706A>G	c.(1705-1707)GAG>GGG	p.E569G	TAOK3_uc001twv.2_Missense_Mutation_p.E109G|TAOK3_uc001tww.2_Missense_Mutation_p.E399G|TAOK3_uc001twy.3_Missense_Mutation_p.E569G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	569	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTATGGTCCTCATTCATTTC	0.418		NA											3	138					0	0	0	0
DDX55	57696	broad.mit.edu	37	12	124099831	124099831	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:124099831T>A	uc001ufi.2	+	9	948	c.924T>A	c.(922-924)AAT>AAA	p.N308K	DDX55_uc001ufh.2_Missense_Mutation_p.N161K|DDX55_uc001ufj.1_Missense_Mutation_p.N161K|DDX55_uc001ufk.2_Missense_Mutation_p.N161K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	308	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATAAACGCAATAAGATCTTCA	0.378		NA											9	48					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559121	129559121	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:129559121C>T	uc009zyl.1	-	9	2927	c.2599G>A	c.(2599-2601)GGC>AGC	p.G867S	TMEM132D_uc001uia.2_Missense_Mutation_p.G405S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	867	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCTGGCCTTTCTTCTTC	0.567		NA											6	55					0	0	0	0
GPR133	283383	broad.mit.edu	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	rs141128784		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:131593399G>A	uc001uit.3	+	18	2577	c.2018G>A	c.(2017-2019)CGT>CAT	p.R673H	GPR133_uc010tbm.1_Missense_Mutation_p.R705H|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.R192H|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	673	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.299		NA											15	68					0	0	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287503	29287503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:29287503G>A	uc001usi.2	-	2	1344	c.374C>T	c.(373-375)GCC>GTC	p.A125V	SLC46A3_uc001usg.2_Missense_Mutation_p.A50V|SLC46A3_uc001usj.2_Missense_Mutation_p.A125V|SLC46A3_uc001ush.2_Missense_Mutation_p.A125V|SLC46A3_uc001usk.2_Missense_Mutation_p.A50V	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	125	Extracellular (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GAATGGAAAGGCAAAATAGCA	0.413		NA											6	22					0	0	0	0
NBEA	26960	broad.mit.edu	37	13	35770345	35770345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:35770345G>A	uc001uvb.2	+	31	5478	c.5272G>A	c.(5272-5274)GCA>ACA	p.A1758T	NBEA_uc010abi.2_Missense_Mutation_p.A414T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1758						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTGAAATAGCAGAATGTGG	0.428		NA											12	44					0	0	0	0
FOXO1	2308	broad.mit.edu	37	13	41133857	41133857	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:41133857C>T	uc001uxl.3	-	2	2156	c.1771G>A	c.(1771-1773)GGC>AGC	p.G591S	FOXO1_uc010acc.1_Missense_Mutation_p.G406S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	591					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGAGAAGGCCCATTCTGCCA	0.547		NA											22	71					0	0	0	0
DIS3	22894	broad.mit.edu	37	13	73337680	73337680	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73337680T>G	uc001vix.3	-	16	2410	c.2036A>C	c.(2035-2037)CAT>CCT	p.H679P	DIS3_uc001viy.3_Missense_Mutation_p.H649P|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	679					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAATTCCTCATGAATTTTTTT	0.368		NA								Multiple Myeloma(4;0.011)			6	32					0	0	0	0
TEP1	7011	broad.mit.edu	37	14	20845894	20845894	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:20845894A>T	uc001vxe.2	-	40	5780	c.5740T>A	c.(5740-5742)TCT>ACT	p.S1914T	TEP1_uc010ahk.2_Missense_Mutation_p.S1257T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S1806T|TEP1_uc010tlh.1_Missense_Mutation_p.S252T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1914	WD 7.				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)		CGACCCAGAGACCCTGACCAC	0.587		NA											12	46					0	0	0	0
C14orf135	64430	broad.mit.edu	37	14	60582438	60582438	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:60582438A>G	uc001xer.3	+	4	1179	c.657A>G	c.(655-657)GTA>GTG	p.V219V	C14orf135_uc001xeq.2_Silent_p.V219V|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	453	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TTGTTTTAGTATCACCTTTTG	0.343		NA											9	14					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033317	95033317	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:95033317G>A	uc001ydk.2	+	3	726	c.660G>A	c.(658-660)GAG>GAA	p.E220E	SERPINA4_uc010avd.2_Silent_p.E257E|SERPINA4_uc001ydl.2_Silent_p.E220E	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	220					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		CCCTGTGGGAGAAACCATTCA	0.517		NA											16	121					0	0	0	0
GPR132	29933	broad.mit.edu	37	14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:105517549C>T	uc001yqd.2	-	4	1824	c.925G>A	c.(925-927)GTG>ATG	p.V309M	GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577		NA											34	34					0	0	0	0
CAPN3	825	broad.mit.edu	37	15	42701996	42701996	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:42701996C>T	uc001zpn.1	+	18	2310	c.2004C>T	c.(2002-2004)ATC>ATT	p.I668I	CAPN3_uc001zpk.1_Silent_p.I435I|CAPN3_uc001zpl.1_Silent_p.I575I|CAPN3_uc010udf.1_Silent_p.I581I|CAPN3_uc010udg.1_Silent_p.I533I|CAPN3_uc001zpo.1_Silent_p.I662I|CAPN3_uc001zpp.1_Silent_p.I576I|CAPN3_uc001zpq.1_Silent_p.I156I|CAPN3_uc010bcv.1_Silent_p.I3I|CAPN3_uc001zpr.1_Silent_p.I3I|CAPN3_uc001zps.1_Silent_p.I3I|CAPN3_uc001zpt.1_Silent_p.I3I	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	668	EF-hand 1.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACATGGAGATCTGTGCAGATG	0.542		NA											29	111					0	0	0	0
DPP8	54878	broad.mit.edu	37	15	65759441	65759441	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:65759441G>A	uc002aov.2	-	13	3283	c.1705C>T	c.(1705-1707)CGT>TGT	p.R569C	DPP8_uc002aow.2_Missense_Mutation_p.R569C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R553C|DPP8_uc002aoy.2_Missense_Mutation_p.R569C|DPP8_uc002aoz.2_Missense_Mutation_p.R553C|DPP8_uc010bhj.2_Missense_Mutation_p.R569C|DPP8_uc002apa.2_Missense_Mutation_p.R466C|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.R138C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	569					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						GAGTAGCCACGGTCAGTCAGC	0.413		NA											5	34					0	0	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474320	78474320	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:78474320G>A	uc002bdh.2	-	8	1118	c.1062C>T	c.(1060-1062)GAC>GAT	p.D354D	ACSBG1_uc010umw.1_Silent_p.D350D|ACSBG1_uc010umx.1_Silent_p.D112D|ACSBG1_uc010umy.1_Silent_p.D247D	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	354					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						CCTTCAGGGCGTCGGGTTCGG	0.607		NA											22	33					0	0	0	0
HPR	3250	broad.mit.edu	37	16	72110789	72110789	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr16:72110789T>C	uc002fby.2	+	5	886	c.856T>C	c.(856-858)TCT>CCT	p.S286P	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	286	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				TGTCGGCATGTCTAAGTACCA	0.567		NA											7	87					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11607668	11607668	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:11607668A>G	uc002gne.2	+	25	5368	c.5300A>G	c.(5299-5301)CAG>CGG	p.Q1767R	DNAH9_uc010coo.2_Missense_Mutation_p.Q1061R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1767	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATTGGCCAGCTCTCCAAG	0.517		NA											4	68					0	0	0	0
SLC46A1	113235	broad.mit.edu	37	17	26731995	26731995	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:26731995G>A	uc002hbf.1	-	2	816	c.720C>T	c.(718-720)ACC>ACT	p.T240T	SLC46A1_uc002hbg.1_Silent_p.T240T|SLC46A1_uc010wak.1_Silent_p.T240T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	240					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TGAAGAGCCGGGTGGACTTTG	0.547		NA											6	125					0	0	0	0
COLEC12	81035	broad.mit.edu	37	18	347016	347016	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:347016G>A	uc002kkm.2	-	5	821	c.606C>T	c.(604-606)GTC>GTT	p.V202V		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	202	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTTCATGATGACCACATTAT	0.507		NA											5	125					0	0	0	0
MC5R	4161	broad.mit.edu	37	18	13826399	13826399	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:13826399C>T	uc010xaf.1	+	1	635	c.635C>T	c.(634-636)GCG>GTG	p.A212V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	212	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						TTCCTCCTGGCGCGGACTCAC	0.612		NA											23	315					0	0	0	0
DCC	1630	broad.mit.edu	37	18	50278466	50278466	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:50278466A>C	uc002lfe.1	+	2	721	c.134A>C	c.(133-135)GAA>GCA	p.E45A	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	45	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCTCTCAGAACCTTCTGAT	0.483		NA											3	31					0	0	0	0
KIAA1468	57614	broad.mit.edu	37	18	59928749	59928749	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:59928749A>G	uc002lil.2	+	16	2423	c.2208A>G	c.(2206-2208)GGA>GGG	p.G736G	KIAA1468_uc002lik.1_Silent_p.G736G|KIAA1468_uc010xel.1_Silent_p.G736G|KIAA1468_uc002lim.2_Silent_p.G380G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	736							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TTCAGGAAGGAGAACATGGAC	0.393		NA											9	44					0	0	0	0
MAST3	23031	broad.mit.edu	37	19	18235532	18235532	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:18235532C>T	uc002nhz.3	+	10	939	c.939C>T	c.(937-939)GAC>GAT	p.D313D		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	313							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						TTAAGACTGACCTTCCACAGT	0.617		NA											4	35					0	0	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912750	38912750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:38912750G>A	uc002oir.2	-	2	281	c.67C>T	c.(67-69)CGG>TGG	p.R23W	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R23W|RASGRP4_uc010xub.1_Missense_Mutation_p.R23W|RASGRP4_uc010xuc.1_Missense_Mutation_p.R23W|RASGRP4_uc010xud.1_Missense_Mutation_p.R23W|RASGRP4_uc010xue.1_Missense_Mutation_p.R23W|RASGRP4_uc010egb.2_Missense_Mutation_p.R23W	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	23					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGCGGGGCCGGCCTCGCCCT	0.627		NA											20	33					0	0	0	0
MEGF8	1954	broad.mit.edu	37	19	42873017	42873017	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:42873017G>A	uc002otl.3	+	36	6938	c.6303G>A	c.(6301-6303)GGG>GGA	p.G2101G	MEGF8_uc002otm.3_Silent_p.G1709G|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2168	Extracellular (Potential).|PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GGCGTCCGGGGGCCTCCTGGG	0.647		NA											36	63					0	0	0	0
ZNF227	7770	broad.mit.edu	37	19	44739552	44739552	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44739552T>C	uc002oyu.2	+	6	1174	c.969T>C	c.(967-969)TCT>TCC	p.S323S	ZNF227_uc010xwu.1_Silent_p.S272S|ZNF227_uc002oyv.2_Silent_p.S323S|ZNF227_uc010xwv.1_Silent_p.S272S|ZNF227_uc010xww.1_Silent_p.S244S|ZNF227_uc002oyw.2_Silent_p.S295S|ZNF227_uc010ejh.2_Silent_p.S316S|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GAGAGAAGTCTTATAGATGCG	0.403		NA											7	72					0	0	0	0
ZNF229	7772	broad.mit.edu	37	19	44933969	44933969	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44933969G>A	uc002oze.1	-	6	1421	c.987C>T	c.(985-987)GGC>GGT	p.G329G	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.G323G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TCTGTCTGACGCCCCGACCAC	0.507		NA											7	77					0	0	0	0
SAE1	10055	broad.mit.edu	37	19	47673077	47673077	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:47673077G>C	uc002pgc.2	+	6	686	c.630G>C	c.(628-630)AAG>AAC	p.K210N	SAE1_uc002pgd.2_Missense_Mutation_p.K210N|SAE1_uc010ekx.2_Missense_Mutation_p.K210N|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.K36N|SAE1_uc002pge.2_Missense_Mutation_p.K146N	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	210					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCACAGAAGGTGGTCTTCT	0.463		NA											42	107					0	0	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643025	49643025	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:49643025G>C	uc002pmr.2	+	17	2509	c.2177G>C	c.(2176-2178)AGA>ACA	p.R726T	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R594T	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	726						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGTCTTGAGAGAATGACCCAG	0.652		NA											3	57					0	0	0	0
ZNF671	79891	broad.mit.edu	37	19	58234695	58234695	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:58234695A>G	uc002qpz.3	-	2	251	c.152T>C	c.(151-153)TTT>TCT	p.F51S	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATCCTCAAAGACCACACA	0.453		NA											33	128					0	0	0	0
MOGS	7841	broad.mit.edu	37	2	74688529	74688529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:74688529C>T	uc010ffj.2	-	4	2550	c.2387G>A	c.(2386-2388)TGG>TAG	p.W796*	MOGS_uc010ffh.2_Nonsense_Mutation_p.W521*|MOGS_uc010yrt.1_Nonsense_Mutation_p.W677*|MOGS_uc010ffi.2_Nonsense_Mutation_p.W690*	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	796	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GTACTGGCGCCATACATTGCC	0.622		NA											10	80					0	0	0	0
FER1L5	90342	broad.mit.edu	37	2	97369275	97369275	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:97369275A>G	uc010fia.2	+	50	5815	c.5815A>G	c.(5815-5817)AGC>GGC	p.S1939G	FER1L5_uc002sws.3_Missense_Mutation_p.S648G|FER1L5_uc002swt.3_Missense_Mutation_p.S648G|FER1L5_uc010yus.1_Missense_Mutation_p.S647G	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1939						integral to membrane				ovary(1)	1						GGTGAAGATGAGCCTGGAGAT	0.572		NA											12	32					0	0	0	0
GPR39	2863	broad.mit.edu	37	2	133403103	133403103	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:133403103A>T	uc002ttl.2	+	2	1755	c.1286A>T	c.(1285-1287)GAG>GTG	p.E429V	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	429						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TTGAGTCTCGAGTCACTAGAG	0.522		NA											15	62					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179404536	179404536	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:179404536T>C	uc010zfg.1	-	301	90776	c.90552A>G	c.(90550-90552)GCA>GCG	p.A30184A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A23879A|TTN_uc010zfi.1_Silent_p.A23812A|TTN_uc010zfj.1_Silent_p.A23687A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31111							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGATGTTGCAATCATGG	0.443		NA											4	72					0	0	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552279	228552279	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:228552279T>C	uc002vpi.2	-	6	1414	c.1325A>G	c.(1324-1326)TAT>TGT	p.Y442C	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y438C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	442	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATAGCTCCCATAAACTAAAAA	0.348		NA											9	31					0	0	0	0
PDCD1	5133	broad.mit.edu	37	2	242793393	242793393	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:242793393G>A	uc002wcq.3	-	5	752	c.684C>T	c.(682-684)TTC>TTT	p.F228F	PDCD1_uc010fzs.2_Silent_p.F107F|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	228	Cytoplasmic (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CTCGCCACTGGAAATCCAGCT	0.622		NA											11	40					0	0	0	0
HAO1	54363	broad.mit.edu	37	20	7886819	7886819	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr20:7886819C>T	uc002wmw.1	-	4	727	c.703G>A	c.(703-705)GCA>ACA	p.A235T	HAO1_uc010gbu.2_Missense_Mutation_p.A235T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	235	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						ATGCCCTTTGCAACAATTGGC	0.383		NA											26	73					0	0	0	0
CDC45	8318	broad.mit.edu	37	22	19467525	19467525	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19467525G>A	uc002zpr.2	+	1	110	c.34G>A	c.(34-36)GAG>AAG	p.E12K	UFD1L_uc002zpm.2_5'Flank|UFD1L_uc002zpo.2_5'Flank|UFD1L_uc011agy.1_5'Flank|UFD1L_uc002zpp.2_5'Flank|UFD1L_uc010grq.2_5'Flank|CDC45_uc011agz.1_Missense_Mutation_p.E12K|CDC45_uc011aha.1_Missense_Mutation_p.E12K|CDC45_uc002zps.2_Missense_Mutation_p.E12K|CDC45_uc002zpt.2_Missense_Mutation_p.E12K	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	12					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						AGAGTTCTACGAGGTGGTCCA	0.692		NA											6	149					0	0	0	0
CDC45	8318	broad.mit.edu	37	22	19471460	19471460	+	Missense_Mutation	SNP	G	G	A	rs61752240	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19471460G>A	uc002zpr.2	+	5	494	c.418G>A	c.(418-420)GAT>AAT	p.D140N	CDC45_uc011agz.1_Missense_Mutation_p.D135N|CDC45_uc011aha.1_Missense_Mutation_p.D140N|CDC45_uc002zps.2_Missense_Mutation_p.D140N|CDC45_uc002zpt.2_Missense_Mutation_p.D94N	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	140					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						TGAAGAGGAGGATGAAGAGCA	0.433		NA											7	83					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066099	40066099	+	Silent	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:40066099C>A	uc003ayc.2	+	25	4251	c.4251C>A	c.(4249-4251)ATC>ATA	p.I1417I	CACNA1I_uc003ayd.2_Silent_p.I1382I|CACNA1I_uc003aye.2_Silent_p.I1332I|CACNA1I_uc003ayf.2_Silent_p.I1297I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1417	Helical; Name=S6 of repeat III; (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCTGCTCATCGTCAGCTTCT	0.582		NA											17	316					5.39e-06	1.34e-05	1	0
FAM118A	55007	broad.mit.edu	37	22	45728337	45728337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:45728337C>G	uc003bfz.3	+	7	1299	c.683C>G	c.(682-684)TCC>TGC	p.S228C	FAM118A_uc003bga.3_Missense_Mutation_p.S228C|FAM118A_uc011aqr.1_Missense_Mutation_p.S46C	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	228						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACCAAGTCCTTTCTGTTT	0.463		NA											13	188					0	0	0	0
TTLL8	164714	broad.mit.edu	37	22	50470327	50470327	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:50470327C>T	uc011ark.1	-	11	1495	c.1495G>A	c.(1495-1497)GAG>AAG	p.E499K		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTGCGAGGCTCCACGTGGTCC	0.637		NA											6	40					0	0	0	0
ARPP21	10777	broad.mit.edu	37	3	35732405	35732405	+	Silent	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:35732405T>A	uc003cgb.2	+	9	858	c.594T>A	c.(592-594)CTT>CTA	p.L198L	ARPP21_uc003cga.2_Silent_p.L198L|ARPP21_uc011axy.1_Silent_p.L198L|ARPP21_uc003cgf.2_Silent_p.L34L	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	198	R3H.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AGAGGATGCTTGTCCATCGAG	0.383		NA											7	54					0	0	0	0
SCN11A	11280	broad.mit.edu	37	3	38936227	38936227	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:38936227T>C	uc011ays.1	-	15	2831	c.2632A>G	c.(2632-2634)AAA>GAA	p.K878E	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	878					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGATGTCTTTGCTTTGTGCA	0.502		NA											14	83					0	0	0	0
ROBO1	6091	broad.mit.edu	37	3	78700882	78700882	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:78700882C>T	uc003dqe.2	-	19	3020	c.2812G>A	c.(2812-2814)GTC>ATC	p.V938I	ROBO1_uc003dqb.2_Missense_Mutation_p.V899I|ROBO1_uc003dqc.2_Missense_Mutation_p.V902I|ROBO1_uc003dqd.2_Missense_Mutation_p.V902I|ROBO1_uc010hoh.2_Missense_Mutation_p.V130I|ROBO1_uc011bgl.1_Missense_Mutation_p.V510I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	938	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGCTAATACCTTTTCTGATA	0.363		NA											9	25					0	0	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489651	100489651	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:100489651G>A	uc003dun.2	-	29	2629	c.2544C>T	c.(2542-2544)ACC>ACT	p.T848T	ABI3BP_uc003duj.2_Silent_p.T428T|ABI3BP_uc003duk.2_Silent_p.T557T|ABI3BP_uc003dul.2_Silent_p.T678T|ABI3BP_uc011bhd.1_Silent_p.T802T|ABI3BP_uc003dum.2_Silent_p.T259T	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	848	Fibronectin type-III 2.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						ACCCTTCCACGGTGACCACAG	0.537		NA											18	139					0	0	0	0
SI	6476	broad.mit.edu	37	3	164758751	164758751	+	Silent	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:164758751T>G	uc003fei.2	-	18	2198	c.2136A>C	c.(2134-2136)ACA>ACC	p.T712T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	712	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTGCTACTGTTTCTCCAA	0.338		NA								HNSCC(35;0.089)			6	129					0	0	0	0
IDUA	3425	broad.mit.edu	37	4	995285	995285	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:995285T>C	uc003gby.2	+	5	611	c.523T>C	c.(523-525)TGG>CGG	p.W175R	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.W128R	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	175					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGTTTCCAAGTGGAACTTCGA	0.602		NA											20	80					0	0	0	0
FRYL	285527	broad.mit.edu	37	4	48523117	48523117	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:48523117T>C	uc003gyh.1	-	55	8242	c.7637A>G	c.(7636-7638)GAG>GGG	p.E2546G	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.E1242G|FRYL_uc003gyi.1_Missense_Mutation_p.E1434G|FRYL_uc003gyj.1_Missense_Mutation_p.E841G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2546					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGTTGGGGTCTCATCCCTGAT	0.502		NA											7	69					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66270095	66270095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:66270095C>T	uc003hcy.2	-	8	1980	c.1787G>A	c.(1786-1788)GGA>GAA	p.G596E	EPHA5_uc003hcx.2_Missense_Mutation_p.G528E|EPHA5_uc003hcz.2_Missense_Mutation_p.G596E|EPHA5_uc011cah.1_Missense_Mutation_p.G597E|EPHA5_uc011cai.1_Missense_Mutation_p.G597E|EPHA5_uc003hda.2_Missense_Mutation_p.G597E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	596	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTCTTACCTTCCACTGAGGAG	0.483		NA								TSP Lung(17;0.13)			5	31					0	0	0	0
FRAS1	80144	broad.mit.edu	37	4	79460498	79460498	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:79460498T>A	uc003hlb.2	+	73	11789	c.11349T>A	c.(11347-11349)TTT>TTA	p.F3783L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3778	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ATGTGCCTTTTGAGGCTCACT	0.418		NA											5	133					0	0	0	0
POU4F2	5458	broad.mit.edu	37	4	147560466	147560466	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:147560466C>T	uc003ikv.2	+	1	422	c.174C>T	c.(172-174)GGC>GGT	p.G58G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	58	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					gtggcggcggcggcggcggcg	0.383		NA											6	8					0	0	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148800393	148800393	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:148800393G>A	uc003ilf.2	+	9	843	c.843G>A	c.(841-843)CCG>CCA	p.P281P	ARHGAP10_uc003ilg.2_5'Flank	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	281	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGCCTGCTCCGTTTGGTTCCA	0.388		NA											9	66					0	0	0	0
NPY2R	4887	broad.mit.edu	37	4	156136041	156136041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:156136041C>T	uc003ioq.2	+	2	1445	c.950C>T	c.(949-951)TCC>TTC	p.S317F	NPY2R_uc003ior.2_Missense_Mutation_p.S317F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317	Helical; Name=7; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCATGTGCTCCACTTTTGCC	0.527		NA											34	57					0	0	0	0
TPPP	11076	broad.mit.edu	37	5	665268	665268	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:665268G>A	uc003jbg.3	-	3	1327	c.609C>T	c.(607-609)TCC>TCT	p.S203S	TPPP_uc003jbh.3_Silent_p.S203S	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	203					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GCTTGTAGCCGGACACATAGC	0.657		NA											4	151					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13841092	13841092	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:13841092G>A	uc003jfd.2	-	34	5674	c.5632C>T	c.(5632-5634)CTG>TTG	p.L1878L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1878	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GTGGAACTCAGATCCCTCGTG	0.398		NA							Kartagener_syndrome				14	194					0	0	0	0
WDR70	55100	broad.mit.edu	37	5	37480070	37480070	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:37480070T>C	uc003jkv.2	+	8	879	c.821T>C	c.(820-822)GTG>GCG	p.V274A	WDR70_uc010iva.1_Missense_Mutation_p.V274A	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	274										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTATATTGTGGACATGGCC	0.318		NA											4	140					0	0	0	0
PTGER4	5734	broad.mit.edu	37	5	40681848	40681848	+	Silent	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:40681848C>G	uc003jlz.2	+	2	1345	c.753C>G	c.(751-753)CTC>CTG	p.L251L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	251	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TGCCGCGCCTCAGCGACTTTC	0.721		NA											3	58					0	0	0	0
C6	729	broad.mit.edu	37	5	41159295	41159295	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:41159295T>C	uc003jmk.2	-	12	1955	c.1745A>G	c.(1744-1746)AAG>AGG	p.K582R	C6_uc003jml.1_Missense_Mutation_p.K582R	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	582	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCGATCTCTTATAAGTAGC	0.507		NA											85	71					0	0	0	0
MAP1B	4131	broad.mit.edu	37	5	71493969	71493969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:71493969A>G	uc003kbw.3	+	5	5028	c.4787A>G	c.(4786-4788)CAA>CGA	p.Q1596R	MAP1B_uc010iyw.1_Missense_Mutation_p.Q1613R|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1470R|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1470R	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGTTGTGCAAACACCTACC	0.468		NA											15	94					0	0	0	0
HOMER1	9456	broad.mit.edu	37	5	78752757	78752757	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:78752757A>G	uc003kfy.2	-	2	1193	c.90T>C	c.(88-90)CAT>CAC	p.H30H	HOMER1_uc010jab.2_Silent_p.H30H|HOMER1_uc010jac.2_Silent_p.H30H|HOMER1_uc010jad.2_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	30	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CAGTAACTGCATGCTTGCTGG	0.418		NA											11	128					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127800510	127800510	+	Missense_Mutation	SNP	G	G	A	rs146941428		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:127800510G>A	uc003kuu.2	-	6	1172	c.733C>T	c.(733-735)CGG>TGG	p.R245W	FBN2_uc003kuv.2_Missense_Mutation_p.R212W|FBN2_uc003kuw.3_Missense_Mutation_p.R245W|FBN2_uc003kux.1_Missense_Mutation_p.R245W	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	245	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCACGCCCGTCCAATGGTG	0.607		NA											6	75					0	0	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208448	140208448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140208448G>A	uc003lho.2	+	1	799	c.772G>A	c.(772-774)GGA>AGA	p.G258R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G258R|PCDHA6_uc011dab.1_Missense_Mutation_p.G258R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	258	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACAACGGAACAACAGT	0.423		NA											11	54					0	0	0	0
DIAPH1	1729	broad.mit.edu	37	5	140957813	140957813	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140957813T>A	uc003llb.3	-	11	1283	c.1142A>T	c.(1141-1143)GAT>GTT	p.D381V	DIAPH1_uc003llc.3_Missense_Mutation_p.D372V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	381	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAATGTCATCCAGCCGTCC	0.433		NA											17	67					0	0	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679114	148679114	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:148679114T>A	uc003lqh.2	+	2	190	c.59T>A	c.(58-60)CTC>CAC	p.L20H	AFAP1L1_uc003lqg.3_Missense_Mutation_p.L20H|AFAP1L1_uc010jgy.2_Missense_Mutation_p.L20H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	20							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGCCTCCTGGACCAC	0.642		NA											8	35					0	0	0	0
ZNF300	91975	broad.mit.edu	37	5	150275862	150275862	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:150275862A>G	uc003lsy.1	-	6	1206	c.939T>C	c.(937-939)GTT>GTC	p.V313V	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	313	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGTACAACAAGATGAA	0.388		NA											12	102					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28554347	28554347	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:28554347G>A	uc003nlo.2	-	1	766	c.148C>T	c.(148-150)CTC>TTC	p.L50F	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	50					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGACGAGAGAGTTCCCTGGTA	0.507		NA											35	58					0	0	0	0
TAF8	129685	broad.mit.edu	37	6	42036251	42036251	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:42036251C>A	uc003ors.2	+	7	715	c.686C>A	c.(685-687)CCG>CAG	p.P229Q	TAF8_uc003ort.2_Missense_Mutation_p.P229Q|TAF8_uc003oru.1_Missense_Mutation_p.P229Q|TAF8_uc003orv.1_Missense_Mutation_p.P229Q|TAF8_uc011dun.1_Missense_Mutation_p.P153Q	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	229					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCTTCTTCCGTCTGAACTG	0.512		NA											6	261					0.00198382	0.00473282	1	0
TCTE1	202500	broad.mit.edu	37	6	44247948	44247948	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:44247948A>T	uc003oxi.2	-	5	1632	c.1476T>A	c.(1474-1476)ACT>ACA	p.T492T	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	492										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCATTGGCAGTTATGGTTG	0.577		NA											22	120					0	0	0	0
IBTK	25998	broad.mit.edu	37	6	82950154	82950154	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:82950154T>C	uc003pjl.1	-	2	577	c.50A>G	c.(49-51)CAT>CGT	p.H17R	IBTK_uc011dyv.1_Missense_Mutation_p.H17R|IBTK_uc011dyw.1_Missense_Mutation_p.H17R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.H17R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	17					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATCCAAAGCATGCTTCAGGGA	0.408		NA											13	130					0	0	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127648	117127648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:117127648G>T	uc003pxj.1	-	3	1242	c.1220C>A	c.(1219-1221)GCT>GAT	p.A407D	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.A407D	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	407	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCCTGGCTCAGCATAGTCCCA	0.463		NA											7	51					0.00307968	0.00730549	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093537	143093537	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:143093537G>A	uc003qjd.2	-	5	3082	c.2339C>T	c.(2338-2340)GCC>GTC	p.A780V		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAATCAATGGCTGAAGGTGA	0.512		NA											13	64					0	0	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121855	151121855	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:151121855G>A	uc003qny.1	+	7	942	c.630G>A	c.(628-630)AGG>AGA	p.R210R	PLEKHG1_uc011eel.1_Silent_p.R250R|PLEKHG1_uc011eem.1_Silent_p.R269R|PLEKHG1_uc003qnz.2_Silent_p.R210R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTCCTGCAGGTCCGTGGCTG	0.428		NA											6	55					0	0	0	0
CYTH3	9265	broad.mit.edu	37	7	6213353	6213353	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:6213353T>C	uc003spt.2	-	6	484	c.380A>G	c.(379-381)AAT>AGT	p.N127S	CYTH3_uc011jws.1_5'Flank	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	127	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						AACTTTAATATTAAATTCATC	0.323		NA											21	30					0	0	0	0
ZNF479	90827	broad.mit.edu	37	7	57188428	57188428	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:57188428T>A	uc010kzo.2	-	5	965	c.694A>T	c.(694-696)AAA>TAA	p.K232*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	232	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TGAATTATTTTATGTGTAGTA	0.383		NA											5	25					0	0	0	0
LIMK1	3984	broad.mit.edu	37	7	73535347	73535347	+	Silent	SNP	C	C	T	rs55722104		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:73535347C>T	uc003uaa.1	+	15	1914	c.1749C>T	c.(1747-1749)ACC>ACT	p.T583T	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.T549T	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	583	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				TCCCCATCACCGTGCGCTGTT	0.662		NA											41	189					0	0	0	0
GNAT3	346562	broad.mit.edu	37	7	80091818	80091818	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:80091818C>T	uc011kgu.1	-	6	720	c.720G>A	c.(718-720)GTG>GTA	p.V240V	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	240					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TTAGACTTACCACTTCTTCGT	0.398		NA											14	93					0	0	0	0
CUX1	1523	broad.mit.edu	37	7	101844978	101844978	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:101844978G>A	uc003uyx.3	+	18	2439	c.2401G>A	c.(2401-2403)GAT>AAT	p.D801N	CUX1_uc003uys.3_Missense_Mutation_p.D812N|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	801					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GGGAGCAGCCGATTGTGCACA	0.672		NA											19	23					0	0	0	0
GPR124	25960	broad.mit.edu	37	8	37699033	37699033	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:37699033C>T	uc003xkj.2	+	19	3540	c.3177C>T	c.(3175-3177)TCC>TCT	p.S1059S	GPR124_uc010lvy.2_Silent_p.S842S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	1059	Helical; Name=7; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAGCCTCCGCCCTGGGCC	0.647		NA											5	28					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:55533931G>A	uc003xsd.1	+	2	553	c.405G>A	c.(403-405)GCG>GCA	p.A135A	RP1_uc011ldy.1_Silent_p.A135A	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135V(1)		skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692		NA											5	92					0	0	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:92972688G>A	uc003yfd.2	-	11	1681	c.1597C>T	c.(1597-1599)CGA>TGA	p.R533*	RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R506*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R496*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R506*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R544*|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Nonsense_Mutation_p.R158*|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R496*	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	533	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517		NA											30	48					0	0	0	0
TM7SF4	81501	broad.mit.edu	37	8	105361565	105361565	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:105361565A>T	uc003ylx.1	+	2	834	c.785A>T	c.(784-786)CAG>CTG	p.Q262L		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	262					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGACATCAACAGAGGCCCTGT	0.468		NA											13	93					0	0	0	0
ANGPT1	284	broad.mit.edu	37	8	108264120	108264120	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:108264120C>T	uc003ymn.2	-	9	1928	c.1460G>A	c.(1459-1461)CGT>CAT	p.R487H	ANGPT1_uc011lhv.1_Missense_Mutation_p.R287H|ANGPT1_uc003ymo.2_Missense_Mutation_p.R486H	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	487	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGTTGTGGAACGTAAGGAGTA	0.428		NA											7	147					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455268	110455268	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:110455268T>C	uc003yne.2	+	36	4591	c.4487T>C	c.(4486-4488)ATT>ACT	p.I1496T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1496	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)			CAAGGAGTCATTAATGTTTTA	0.418		NA								HNSCC(38;0.096)			36	210					0	0	0	0
ADCY8	114	broad.mit.edu	37	8	131880107	131880107	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:131880107A>G	uc003ytd.3	-	9	2451	c.2195T>C	c.(2194-2196)TTG>TCG	p.L732S	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	732	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAAGGAAGCAAACTTTGTAT	0.343		NA								HNSCC(32;0.087)			5	44					0	0	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627396	43627396	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:43627396C>T	uc011lrb.1	-	4	1320	c.1291G>A	c.(1291-1293)GCC>ACC	p.A431T		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	431						integral to membrane					0						GTTACCCAGGCGTTAGCCACC	0.488		NA											48	78					0	0	0	0
ROR2	4920	broad.mit.edu	37	9	94486931	94486931	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:94486931G>A	uc004arj.1	-	9	2044	c.1845C>T	c.(1843-1845)GAC>GAT	p.D615D	ROR2_uc004ari.1_Silent_p.D475D	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	615	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).			negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGGTGGCCAGGTCCTTGTGAA	0.597		NA											16	105					0	0	0	0
OMD	4958	broad.mit.edu	37	9	95179448	95179448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:95179448C>G	uc004asd.3	-	2	762	c.393G>C	c.(391-393)AAG>AAC	p.K131N	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	131					cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						CATAATCAATCTTTTGAGATT	0.328		NA	T	USP6	aneurysmal bone cysts								6	109					0	0	0	0
SMC2	10592	broad.mit.edu	37	9	106891994	106891994	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:106891994T>C	uc004bbv.2	+	21	3147	c.2859T>C	c.(2857-2859)AGT>AGC	p.S953S	SMC2_uc004bbw.2_Silent_p.S953S|SMC2_uc011lvl.1_Silent_p.S953S|SMC2_uc004bbx.2_Silent_p.S953S|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	953					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AACCCAATAGTGCCTATGATT	0.378		NA											5	124					0	0	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899866	112899866	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:112899866A>T	uc004bei.2	+	9	2930	c.2738A>T	c.(2737-2739)GAT>GTT	p.D913V	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D491V|AKAP2_uc011lwi.1_Missense_Mutation_p.D539V|AKAP2_uc004bem.2_Missense_Mutation_p.D539V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D499V|AKAP2_uc011lwj.1_Missense_Mutation_p.D450V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D450V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	450							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GTCAAGGATGATGACCATGGG	0.522		NA											84	87					0	0	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927421	92927421	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chrX:92927421G>T	uc004efq.2	-	1	1188	c.883C>A	c.(883-885)CTT>ATT	p.L295I	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	295					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						GCTCTTTTAAGATCTACACTG	0.433		NA											32	19					7.17e-06	1.78e-05	1	0
MLL2	8085	broad.mit.edu	37	12	49440414	49440415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:49440414_49440415insG	uc001rta.3	-	15	4395_4396	c.4395_4396insC	c.(4393-4398)CCCAAGfs	p.P1465fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1465_1466	Cys-rich.|PHD-type 4.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.K1193fs*25(1)		kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCCGCCCTTGGGGACGGTGA	0.559		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			15	118	---	---	---	---	NA	NA	NA	NA
KLF5	688	broad.mit.edu	37	13	73636125	73636137	+	Frame_Shift_Del	DEL	TTACCTTACAGTA	TTACCTTACAGTA	-	rs143426593		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73636125_73636137delTTACCTTACAGTA	uc001vje.2	+	2	712_724	c.388_400delTTACCTTACAGTA	c.(388-402)TTACCTTACAGTATCfs	p.L130fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.L39fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	130_134					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTGAAGGGTTACCTTACAGTATCAACATGAA	0.474		NA											22	166	---	---	---	---	NA	NA	NA	NA
UNC13C	440279	broad.mit.edu	37	15	54305623	54305623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:54305623delG	uc002ack.2	+	1	523	c.523delG	c.(523-525)GGCfs	p.G175fs		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	175					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTCTACATGGCTTAAAACT	0.473		NA											26	87	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7579579	7579579	+	Frame_Shift_Del	DEL	C	C	-	rs1800370	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:7579579delC	uc002gim.2	-	4	302	c.108delG	c.(106-108)CCGfs	p.P36fs	TP53_uc002gig.1_Frame_Shift_Del_p.P36fs|TP53_uc002gih.2_Frame_Shift_Del_p.P36fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P36fs|TP53_uc010cni.1_Frame_Shift_Del_p.P36fs|TP53_uc002gij.2_Frame_Shift_Del_p.P36fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P51fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	36	Transcription activation (acidic).|Interaction with HRMT1L2.		P -> L (in a sporadic cancer; 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.0?(7)|p.?(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*23(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)		TTGCTTGGGACGGCAAGGGGG	0.403		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)			76	131	---	---	---	---	NA	NA	NA	NA
TIGIT	201633	broad.mit.edu	37	3	114014456	114014456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:114014456delC	uc003ebg.1	+	2	160	c.126delC	c.(124-126)ATCfs	p.I42fs		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	42	Extracellular (Potential).|Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1						GCTCTATCATCTTACAATGTC	0.522		NA											54	142	---	---	---	---	NA	NA	NA	NA
SLC4A4	8671	broad.mit.edu	37	4	72215646	72215646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:72215646delA	uc003hfy.2	+	5	524	c.407delA	c.(406-408)GAAfs	p.E136fs	SLC4A4_uc010iic.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc010iib.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hfz.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hgc.3_Frame_Shift_Del_p.E92fs|SLC4A4_uc003hga.2_Frame_Shift_Del_p.E14fs|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.E92fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	136	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAGTTTGAAGAAAAAGTGGAA	0.438		NA											7	96	---	---	---	---	NA	NA	NA	NA
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:117797538_117797539insG	uc004bjj.3	-	22	6093_6094	c.5731_5732insC	c.(5731-5733)CGGfs	p.R1911fs	TNC_uc010mvf.2_Frame_Shift_Ins_p.R1638fs	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GACTGATGCCCGGGGGGGTCGC	0.475		NA											74	105	---	---	---	---	NA	NA	NA	NA
