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
AGRN	375790	broad.mit.edu	37	1	979269	979269	+	Missense_Mutation	SNP	G	G	T	rs140789461		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:979269G>T	uc001ack.1	+	10	1915	c.1865G>T	c.(1864-1866)CGG>CTG	p.R622L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	622	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTCCCCGGTGTGAGCAC	0.682		NA											6	51					3.6e-05	4.07e-05	1	0
TAS1R3	83756	broad.mit.edu	37	1	1267466	1267466	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:1267466C>A	uc010nyk.1	+	3	555	c.555C>A	c.(553-555)CGC>CGA	p.R185R		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	185	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCTTCTTCCGCACCGTGCCCA	0.682		NA											35	70					7.04e-22	9.98e-22	1	0
SPEN	23013	broad.mit.edu	37	1	16255029	16255029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16255029G>A	uc001axk.1	+	11	2498	c.2294G>A	c.(2293-2295)AGC>AAC	p.S765N	SPEN_uc010obp.1_Missense_Mutation_p.S724N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	765	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGAGTGGAAGCTGTAGCTCA	0.498		NA											21	93					0	0	0	0
RUNX3	864	broad.mit.edu	37	1	25254161	25254161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:25254161C>A	uc001bjq.2	-	2	754	c.343G>T	c.(343-345)GAG>TAG	p.E115*	RUNX3_uc010oen.1_Nonsense_Mutation_p.E115*|RUNX3_uc009vrj.2_Nonsense_Mutation_p.E129*|RUNX3_uc001bjr.2_Nonsense_Mutation_p.E129*	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	115	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGTAGTTCTCGTCATTGCCT	0.627		NA											78	203					1.41e-23	2.02e-23	1	0
YTHDF2	51441	broad.mit.edu	37	1	29095450	29095450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:29095450G>A	uc001brc.2	+	5	2223	c.1726G>A	c.(1726-1728)GGT>AGT	p.G576S	YTHDF2_uc001brd.2_Missense_Mutation_p.G573S|YTHDF2_uc010ofx.1_Missense_Mutation_p.G526S|YTHDF2_uc001bre.2_Missense_Mutation_p.G526S	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	576					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACGTCAAGGTCGTGGGAA	0.343		NA											8	63					0	0	0	0
PHC2	1912	broad.mit.edu	37	1	33832992	33832992	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:33832992G>A	uc001bxg.1	-	6	755	c.701C>T	c.(700-702)GCG>GTG	p.A234V	PHC2_uc001bxh.1_Missense_Mutation_p.A205V|PHC2_uc009vuh.1_Missense_Mutation_p.A234V|PHC2_uc001bxi.1_Missense_Mutation_p.A234V	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	234					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGCTGCCGCTGGTGTCTG	0.622		NA									OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	153					0	0	0	0
DLGAP3	58512	broad.mit.edu	37	1	35350638	35350638	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:35350638G>C	uc001byc.2	-	6	1941	c.1941C>G	c.(1939-1941)ACC>ACG	p.T647T		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	647					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				TCCTGTTCTCGGTGTCCGAAT	0.607		NA											33	68					0	0	0	0
CSF3R	1441	broad.mit.edu	37	1	36933736	36933736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:36933736C>G	uc001caw.1	-	13	1841	c.1663G>C	c.(1663-1665)GGG>CGG	p.G555R	CSF3R_uc001cat.1_Missense_Mutation_p.G118R|CSF3R_uc009vvc.1_Missense_Mutation_p.G84R|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.G555R|CSF3R_uc001cax.1_Missense_Mutation_p.G555R|CSF3R_uc001cay.1_Missense_Mutation_p.G555R	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	555	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCTCTTCCCCAGCTCAGGG	0.592		NA											42	82					0	0	0	0
DMAP1	55929	broad.mit.edu	37	1	44685699	44685699	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:44685699G>A	uc001clq.1	+	10	1142	c.1062G>A	c.(1060-1062)CCG>CCA	p.P354P	DMAP1_uc001clr.1_Silent_p.P354P|DMAP1_uc001cls.1_Silent_p.P354P|DMAP1_uc010oku.1_Silent_p.P344P	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	354					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					AGCTGAGCCCGACACCTACGG	0.622		NA											7	42					0	0	0	0
TTC39A	22996	broad.mit.edu	37	1	51768088	51768088	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:51768088C>A	uc001csl.2	-	11	1045	c.940G>T	c.(940-942)GGT>TGT	p.G314C	TTC39A_uc001csk.2_Missense_Mutation_p.G279C|TTC39A_uc010ond.1_Missense_Mutation_p.G251C|TTC39A_uc010one.1_Missense_Mutation_p.G278C|TTC39A_uc010onf.1_Missense_Mutation_p.G282C|TTC39A_uc001csn.2_Missense_Mutation_p.G313C|TTC39A_uc001cso.1_Missense_Mutation_p.G310C|TTC39A_uc009vyy.1_Missense_Mutation_p.G251C	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	314							binding			skin(1)	1						AAGATGGCACCCTGCAATGAC	0.592		NA											3	23					2.56e-06	2.97e-06	1	0
DAB1	1600	broad.mit.edu	37	1	57528566	57528566	+	Missense_Mutation	SNP	T	T	A	rs148730065	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:57528566T>A	uc001cys.1	-	11	1388	c.714A>T	c.(712-714)CAA>CAT	p.Q238H	DAB1_uc001cyt.1_Missense_Mutation_p.Q238H|DAB1_uc001cyq.1_Missense_Mutation_p.Q203H|DAB1_uc001cyr.1_Missense_Mutation_p.Q119H|DAB1_uc009vzw.1_Missense_Mutation_p.Q203H|DAB1_uc009vzx.1_Missense_Mutation_p.Q238H	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	238					cell differentiation|nervous system development					skin(2)|ovary(1)	3						CACTTACAGGTTGACTTTTTG	0.463		NA											24	90					0	0	0	0
C1orf87	127795	broad.mit.edu	37	1	60463339	60463339	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:60463339C>G	uc001czs.1	-	11	1514	c.1422G>C	c.(1420-1422)TGG>TGC	p.W474C	C1orf87_uc001czr.1_Missense_Mutation_p.W66C	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	474							calcium ion binding			ovary(1)|breast(1)	2						ACCTGTCTATCCACGTCTCAC	0.468		NA											39	91					0	0	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861485	67861485	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67861485A>G	uc001ddu.2	+	16	2942	c.2302A>G	c.(2302-2304)AAG>GAG	p.K768E	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.K682E|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	768	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GGATCTGTACAAGGTGCTGGA	0.582		NA											39	123					0	0	0	0
SERBP1	26135	broad.mit.edu	37	1	67891881	67891881	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67891881C>A	uc001ddv.2	-	2	541	c.401G>T	c.(400-402)CGT>CTT	p.R134L	SERBP1_uc001ddx.2_Missense_Mutation_p.R134L|SERBP1_uc001ddy.2_Missense_Mutation_p.R134L|SERBP1_uc001ddw.2_Missense_Mutation_p.R134L	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	134					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						TCTTCGTTCACGAGGTGGTCG	0.358		NA											114	282					9.62e-41	1.45e-40	1	0
TNNI3K	51086	broad.mit.edu	37	1	74833001	74833001	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:74833001T>C	uc001dgf.1	+	12	1290	c.1239T>C	c.(1237-1239)TGT>TGC	p.C413C	TNNI3K_uc001dgc.1_Silent_p.C514C|TNNI3K_uc001dgd.2_Silent_p.C514C|TNNI3K_uc001dge.1_Silent_p.C514C	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	413						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						AATTGCCCTGTAATGAATATT	0.358		NA											60	139					0	0	0	0
IFI44L	10964	broad.mit.edu	37	1	79093997	79093997	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:79093997G>T	uc010oro.1	+	2	576	c.397G>T	c.(397-399)GAT>TAT	p.D133Y	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	133						cytoplasm					0						AATTTATCTAGATAAAATGAT	0.299		NA											15	42					2.32e-05	2.63e-05	1	0
OLFM3	118427	broad.mit.edu	37	1	102312602	102312602	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:102312602C>G	uc001duf.2	-	1	1	c.-70_splice	c.e1-1		OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Splice_Site	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGAGGCGTGACTGCAGCGCGC	0.552		NA											11	38					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103381240	103381240	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103381240C>A	uc001dul.2	-	50	4081	c.3763G>T	c.(3763-3765)GGT>TGT	p.G1255C	COL11A1_uc001duk.2_Missense_Mutation_p.G451C|COL11A1_uc001dum.2_Missense_Mutation_p.G1267C|COL11A1_uc001dun.2_Missense_Mutation_p.G1216C|COL11A1_uc009weh.2_Missense_Mutation_p.G1139C	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1255	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTTCACCCTATATAGAG	0.353		NA											70	114					1.71e-16	2.32e-16	1	0
COL11A1	1301	broad.mit.edu	37	1	103488414	103488414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103488414C>A	uc001dul.2	-	8	1447	c.1129G>T	c.(1129-1131)GAT>TAT	p.D377Y	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D389Y|COL11A1_uc001dun.2_Missense_Mutation_p.D338Y|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	377	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCGCCTAAATCTCCATCTACC	0.378		NA											28	139					4.88e-14	6.46e-14	1	0
NOTCH2	4853	broad.mit.edu	37	1	120462937	120462937	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:120462937G>C	uc001eik.2	-	30	5650	c.5394C>G	c.(5392-5394)GAC>GAG	p.D1798E		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1798	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACGGATGTCTGCAGCTT	0.557		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				50	86					0	0	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129588	150129588	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:150129588G>C	uc001ett.2	+	5	711	c.433G>C	c.(433-435)GAG>CAG	p.E145Q	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_Intron|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	145	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCACCGTTGAGGAGGACAG	0.557		NA											20	88					0	0	0	0
CLK2	1196	broad.mit.edu	37	1	155236610	155236610	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155236610T>A	uc001fjy.2	-	7	1038	c.748A>T	c.(748-750)ACC>TCC	p.T250S	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.T249S|CLK2_uc001fjx.2_Missense_Mutation_p.T22S|CLK2_uc009wqm.2_Missense_Mutation_p.T250S	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	250	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAATCGAAGGTGCTAAGGCCC	0.542		NA						Other_conserved_DNA_damage_response_genes					37	70					0	0	0	0
SYT11	23208	broad.mit.edu	37	1	155851056	155851056	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155851056G>A	uc001fmg.2	+	4	1316	c.1053G>A	c.(1051-1053)AAG>AAA	p.K351K	SYT11_uc010pgq.1_Silent_p.K44K	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	351	C2 2.|Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCATGTGAAGAAGTGCACTT	0.473		NA											95	646					0	0	0	0
SPTA1	6708	broad.mit.edu	37	1	158582745	158582745	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158582745G>T	uc001fst.1	-	51	7195	c.6996C>A	c.(6994-6996)GGC>GGA	p.G2332G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2332	EF-hand 2.|2 (Potential).				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)					GTGAGACATAGCCCTTCCTGT	0.473		NA											33	71					9.78e-22	1.38e-21	1	0
OR6N1	128372	broad.mit.edu	37	1	158735613	158735613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158735613G>T	uc010piq.1	-	1	860	c.860C>A	c.(859-861)CCC>CAC	p.P287H		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522		NA											45	239					5.34e-22	7.58e-22	1	0
MAEL	84944	broad.mit.edu	37	1	166974632	166974632	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166974632A>T	uc001gdy.1	+	8	914	c.843A>T	c.(841-843)ACA>ACT	p.T281T	MAEL_uc001gdz.1_Silent_p.T250T|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	281					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						CTAGCAACACAAGGTATTGCT	0.373		NA											45	92					0	0	0	0
MAEL	84944	broad.mit.edu	37	1	166987197	166987197	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166987197G>T	uc001gdy.1	+	10	1112	c.1041_splice	c.e10+1	p.Q347_splice	MAEL_uc001gdz.1_Splice_Site_p.Q316_splice|MAEL_uc009wvf.1_Splice_Site	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						GCGTTACCAGGTAAGGAACTG	0.443		NA											44	100					5.24e-18	7.27e-18	1	0
DNM3	26052	broad.mit.edu	37	1	172357712	172357712	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:172357712G>T	uc001gie.2	+	20	2462	c.2286_splice	c.e20-1	p.R762_splice	DNM3_uc001gif.2_Splice_Site_p.R758_splice|DNM3_uc001gih.1_Splice_Site_p.R118_splice	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						TTTTTCCTCAGGTCACCTCCT	0.458		NA											20	52					1.56e-12	2.04e-12	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525640	176525640	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:176525640C>G	uc001gkz.2	+	2	1346	c.182C>G	c.(181-183)GCT>GGT	p.A61G	PAPPA2_uc001gky.1_Missense_Mutation_p.A61G|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	61					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AGACCCAGAGCTTCTCCACAG	0.557		NA											100	216					0	0	0	0
CACNA1E	777	broad.mit.edu	37	1	181727125	181727125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:181727125C>T	uc001gow.2	+	31	4537	c.4372C>T	c.(4372-4374)CGC>TGC	p.R1458C	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1346C|CACNA1E_uc001gox.1_Missense_Mutation_p.R684C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R684C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1458	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACCTCTCACCCGCTACATGCC	0.517		NA											30	135					0	0	0	0
LAMC2	3918	broad.mit.edu	37	1	183177137	183177137	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:183177137G>A	uc001gqa.2	+	2	515	c.201G>A	c.(199-201)AAG>AAA	p.K67K	LAMC2_uc001gpz.3_Silent_p.K67K|LAMC2_uc010poa.1_Translation_Start_Site	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	67	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						ACTGCGAGAAGTGCAAGAATG	0.498		NA											207	366					0	0	0	0
CACNA1S	779	broad.mit.edu	37	1	201061195	201061195	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:201061195G>A	uc001gvv.2	-	4	673	c.446C>T	c.(445-447)ACA>ATA	p.T149I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	149	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATTGGGGCTGTGTGGCTTTG	0.597		NA											49	74					0	0	0	0
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:204923419G>T	uc001hbj.2	+	6	647	c.319G>T	c.(319-321)GGG>TGG	p.G107W	NFASC_uc001hbh.2_Missense_Mutation_p.G107W|NFASC_uc010pqz.1_Missense_Mutation_p.G101W|NFASC_uc010pra.1_Missense_Mutation_p.G101W|NFASC_uc001hbi.2_Missense_Mutation_p.G101W|NFASC_uc009xbg.1_Missense_Mutation_p.G174W|NFASC_uc010prb.1_Missense_Mutation_p.G101W|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	107	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCAGTGGCGGGCGGCCGGA	0.582		NA											18	60					1.97e-08	2.4e-08	1	0
PROX1	5629	broad.mit.edu	37	1	214170736	214170736	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214170736C>T	uc001hkh.2	+	2	1130	c.858C>T	c.(856-858)GCC>GCT	p.A286A	PROX1_uc001hkg.1_Silent_p.A286A	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	286					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTGGATGCCAGGGCCCAGG	0.502		NA											39	94					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171345	214171345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214171345G>A	uc001hkh.2	+	2	1739	c.1467G>A	c.(1465-1467)ATG>ATA	p.M489I	PROX1_uc001hkg.1_Missense_Mutation_p.M489I	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	489					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCCTTGATGGCCTATCCAT	0.602		NA											64	170					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214551325	214551325	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214551325T>A	uc001hkk.1	-	14	2936	c.2665A>T	c.(2665-2667)ACC>TCC	p.T889S	PTPN14_uc010pty.1_Missense_Mutation_p.T790S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	889					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAACCCGGGTGGCATCAACT	0.567		NA											42	94					0	0	0	0
HHIPL2	79802	broad.mit.edu	37	1	222700357	222700357	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:222700357C>A	uc001hnh.1	-	7	1817	c.1759G>T	c.(1759-1761)GCC>TCC	p.A587S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	587					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GGTGCATAGGCACTTGGGTAA	0.433		NA											19	37					3.62e-10	4.58e-10	1	0
RHOU	58480	broad.mit.edu	37	1	228879196	228879196	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:228879196G>T	uc001htf.2	+	3	1107	c.486G>T	c.(484-486)CAG>CAT	p.Q162H		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	162	GTP.				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)				TTGGAACGCAGTCGGATCTCA	0.527		NA											76	143					2.05e-37	3.07e-37	1	0
NID1	4811	broad.mit.edu	37	1	236154329	236154329	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:236154329G>T	uc001hxo.2	-	14	2887	c.2785C>A	c.(2785-2787)CAA>AAA	p.Q929K	NID1_uc009xgd.2_Missense_Mutation_p.Q796K|NID1_uc009xgc.2_Missense_Mutation_p.Q15K	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	929					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAGGTCCTTGGTGAATCGGG	0.547		NA											22	29					9.86e-18	1.36e-17	1	0
RGS7	6000	broad.mit.edu	37	1	240964755	240964755	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240964755C>G	uc001hyv.2	-	17	1743	c.1413G>C	c.(1411-1413)GTG>GTC	p.V471V	RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron|RGS7_uc001hyt.2_Silent_p.V303V	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	471					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTAAACTTACCACATTCTGTG	0.239		NA											3	40					0	0	0	0
CNST	163882	broad.mit.edu	37	1	246805333	246805333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:246805333G>A	uc001ibp.2	+	8	1309	c.931G>A	c.(931-933)GAG>AAG	p.E311K	CNST_uc001ibo.3_Missense_Mutation_p.E311K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	311					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TACCACCAAAGAGTCAGGTAT	0.418		NA											8	32					0	0	0	0
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:247875544G>C	uc001idj.1	-	1	514	c.514C>G	c.(514-516)CGT>GGT	p.R172G		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597		NA											49	146					0	0	0	0
OR2T4	127074	broad.mit.edu	37	1	248525300	248525300	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248525300G>T	uc001ieh.1	+	1	418	c.418G>T	c.(418-420)GCA>TCA	p.A140S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	140	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTGACACTAGCAGGTTCAGA	0.522		NA											53	277					4.45e-29	6.5e-29	1	0
OR2T3	343173	broad.mit.edu	37	1	248636987	248636987	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248636987G>T	uc001iel.1	+	1	336	c.336G>T	c.(334-336)CTG>CTT	p.L112L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGACCCTGGCTGGAGCTG	0.547		NA											55	96					3.74e-36	5.59e-36	1	0
OR2T34	127068	broad.mit.edu	37	1	248737450	248737450	+	Silent	SNP	G	G	T	rs148163660	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248737450G>T	uc001iep.1	-	1	609	c.609C>A	c.(607-609)CTC>CTA	p.L203L		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGTACGTGAGCATCTTAT	0.517		NA											68	324					6.09e-36	9.1e-36	1	0
OR14I1	401994	broad.mit.edu	37	1	248844884	248844884	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248844884G>A	uc001ieu.1	-	1	722	c.722C>T	c.(721-723)CCC>CTC	p.P241L		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AATGAGCTGGGGGGAGCAGGT	0.468		NA											47	124					0	0	0	0
DIP2C	22982	broad.mit.edu	37	10	394634	394634	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:394634G>A	uc001ifp.2	-	26	3268	c.3178C>T	c.(3178-3180)CCG>TCG	p.P1060S	DIP2C_uc009xhi.1_Missense_Mutation_p.P446S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1060						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGTGCGGGGGACGGACG	0.542		NA											152	165					0	0	0	0
ASB13	79754	broad.mit.edu	37	10	5693182	5693182	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:5693182T>G	uc001iig.2	-	3	420	c.376A>C	c.(376-378)ATG>CTG	p.M126L	ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.M126L	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	126	ANK 4.				intracellular signal transduction		protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(2;9.59e-09)		TCACCGCTCATGCAGGCCTCG	0.612		NA											31	211					0	0	0	0
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:7773950G>A	uc001ijs.2	+	13	1800	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GCGTTATCACGGCGACTTCGG	0.438		NA											14	148					0	0	0	0
PTER	9317	broad.mit.edu	37	10	16526679	16526679	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16526679C>A	uc001iog.1	+	3	503	c.296C>A	c.(295-297)ACA>AAA	p.T99K	PTER_uc001ioh.1_Missense_Mutation_p.T99K|PTER_uc001ioi.1_Missense_Mutation_p.T99K|PTER_uc009xjp.1_Missense_Mutation_p.T99K	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						GTGGAAAACACAACCACTGGG	0.443		NA											15	104					1.15e-07	1.39e-07	1	0
CUBN	8029	broad.mit.edu	37	10	16955852	16955852	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16955852C>A	uc001ioo.2	-	48	7543	c.7491G>T	c.(7489-7491)CTG>CTT	p.L2497L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2497	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCCAGCCTCAGGTTGTTAA	0.517		NA											43	261					2.01e-17	2.76e-17	1	0
CUBN	8029	broad.mit.edu	37	10	17032445	17032445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17032445G>T	uc001ioo.2	-	29	4290	c.4238C>A	c.(4237-4239)CCA>CAA	p.P1413Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1413	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCTTGTTTGGTGGATACCT	0.512		NA											24	143					3.67e-16	4.97e-16	1	0
VIM	7431	broad.mit.edu	37	10	17275622	17275622	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17275622G>C	uc001iou.2	+	4	1074	c.661G>C	c.(661-663)GAA>CAA	p.E221Q	VIM_uc001iov.1_Missense_Mutation_p.E221Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E221Q|VIM_uc001ioy.1_Missense_Mutation_p.E221Q|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E221Q|VIM_uc001ipc.1_Missense_Mutation_p.E221Q	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	221	Rod.|Coil 1B.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTGACCTTGAACGCAAAGT	0.423		NA											60	81					0	0	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250541	18250541	+	Missense_Mutation	SNP	C	C	A	rs150700069		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:18250541C>A	uc001ipo.2	+	3	566	c.293C>A	c.(292-294)GCT>GAT	p.A98D	SLC39A12_uc001ipn.2_Missense_Mutation_p.A98D|SLC39A12_uc001ipp.2_Missense_Mutation_p.A98D|SLC39A12_uc010qck.1_Translation_Start_Site	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	98	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TTACTAATAGCTGGAGGAAAT	0.358		NA											89	84					6.32e-53	9.63e-53	1	0
MKX	283078	broad.mit.edu	37	10	28030397	28030397	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:28030397C>T	uc001ity.3	-	3	450	c.225G>A	c.(223-225)CGG>CGA	p.R75R	MKX_uc001itx.3_Silent_p.R75R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	75	Homeobox; TALE-type.				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCAGGGCCTGCCGCTTGTGCC	0.662		NA											4	58					0	0	0	0
SVIL	6840	broad.mit.edu	37	10	29762806	29762806	+	Silent	SNP	C	C	G	rs139597633		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:29762806C>G	uc001iut.1	-	30	6243	c.5490G>C	c.(5488-5490)GCG>GCC	p.A1830A	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.A744A|SVIL_uc001iuu.1_Silent_p.A1404A	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1830	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647		NA											24	80					0	0	0	0
MAPK8	5599	broad.mit.edu	37	10	49632604	49632604	+	Missense_Mutation	SNP	G	G	T	rs139339988		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:49632604G>T	uc009xnz.2	+	7	888	c.664G>T	c.(664-666)GGT>TGT	p.G222C	MAPK8_uc001jgl.2_Missense_Mutation_p.G222C|MAPK8_uc001jgm.2_Missense_Mutation_p.G222C|MAPK8_uc001jgo.2_Missense_Mutation_p.G222C|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.G222C|MAPK8_uc010qgk.1_Missense_Mutation_p.G222C|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	222	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GATCAAAGGTGGTGTTTTGTT	0.343		NA											73	103					9.1e-53	1.39e-52	1	0
RTKN2	219790	broad.mit.edu	37	10	63964747	63964747	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:63964747T>C	uc001jlw.2	-	10	1152	c.1055A>G	c.(1054-1056)AAG>AGG	p.K352R	RTKN2_uc009xpf.1_Missense_Mutation_p.K154R|RTKN2_uc001jlv.2_Missense_Mutation_p.K6R	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	352	PH.				signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTCTTTTCTTGGCATCCTT	0.348		NA											30	77					0	0	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967944	64967944	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:64967944T>A	uc001jmn.2	-	10	3785	c.3485A>T	c.(3484-3486)AAG>ATG	p.K1162M	JMJD1C_uc001jml.2_Missense_Mutation_p.K943M|JMJD1C_uc001jmm.2_Missense_Mutation_p.K874M|JMJD1C_uc010qiq.1_Missense_Mutation_p.K980M|JMJD1C_uc009xpi.2_Missense_Mutation_p.K980M|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.K199M	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1162					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGGTATCTTGCCTACTAA	0.393		NA											83	147					0	0	0	0
LRIT2	340745	broad.mit.edu	37	10	85984691	85984691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:85984691C>G	uc001kcy.2	-	2	298	c.290G>C	c.(289-291)GGA>GCA	p.G97A	LRIT2_uc010qmc.1_Missense_Mutation_p.G97A	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	97	LRR 1.					integral to membrane				ovary(2)	2						TTCCAGGGCTCCTAGGTGGAT	0.517		NA											58	168					0	0	0	0
RGR	5995	broad.mit.edu	37	10	86014184	86014184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:86014184G>T	uc001kdc.1	+	5	653	c.615G>T	c.(613-615)AAG>AAT	p.K205N	RGR_uc001kdd.1_Missense_Mutation_p.K209N|RGR_uc001kde.1_Missense_Mutation_p.K205N	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	205	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						AACTGGGGAAGAGTGGCCATC	0.363		NA											18	77					2.35e-11	3.02e-11	1	0
CYP2C18	1562	broad.mit.edu	37	10	96495160	96495160	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:96495160C>A	uc001kjv.3	+	9	1758	c.1432C>A	c.(1432-1434)CGT>AGT	p.R478S	CYP2C18_uc001kjw.3_Missense_Mutation_p.R419S|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	478					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R478L(1)		ovary(3)|lung(1)|skin(1)	5		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGCATTTGGTCGTGTGCCACC	0.478		NA											41	155					1.32e-16	1.8e-16	1	0
ZDHHC16	84287	broad.mit.edu	37	10	99215802	99215802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:99215802G>C	uc001knj.2	+	11	1368	c.1019_splice	c.e11+1	p.R340_splice	ZDHHC16_uc001knp.2_Splice_Site_p.R270_splice|ZDHHC16_uc001knk.2_Splice_Site_p.R340_splice|ZDHHC16_uc001knl.2_Splice_Site_p.R324_splice|ZDHHC16_uc001knm.2_Splice_Site_p.R259_splice|ZDHHC16_uc001knn.2_Splice_Site_p.R301_splice|ZDHHC16_uc010qow.1_Splice_Site_p.R322_splice|ZDHHC16_uc009xvq.2_Splice_Site|ZDHHC16_uc001kno.2_Splice_Site_p.R306_splice|ZDHHC16_uc009xvr.2_Splice_Site_p.R331_splice	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATACAGGAAGGTAATGTAAGA	0.438		NA											14	58					0	0	0	0
HPSE2	60495	broad.mit.edu	37	10	100219421	100219421	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:100219421A>T	uc001kpn.1	-	12	1749	c.1689T>A	c.(1687-1689)CTT>CTA	p.L563L	HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Silent_p.L495L|HPSE2_uc009xwd.1_Silent_p.L441L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	563					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCCGGCCCGAAGGGGGCGGG	0.557		NA											14	40					0	0	0	0
DNMBP	23268	broad.mit.edu	37	10	101658519	101658519	+	Splice_Site	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:101658519T>C	uc001kqj.2	-	8	2795	c.2703_splice	c.e8-1	p.K901_splice	DNMBP_uc010qpl.1_5'Flank|DNMBP_uc001kqg.2_Splice_Site_p.K189_splice|DNMBP_uc001kqh.2_Splice_Site_p.K533_splice	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATAGGCTCCTGCAAGGCAGT	0.368		NA											42	120					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	106675638	106675638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:106675638G>A	uc001kyi.1	+	3	970	c.743G>A	c.(742-744)GGT>GAT	p.G248D		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	248	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAAAGTGGGTTTGAAGACT	0.468		NA											26	73					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108389039	108389039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:108389039G>T	uc001kym.2	-	19	2591	c.2583C>A	c.(2581-2583)AAC>AAA	p.N861K	SORCS1_uc001kyl.2_Missense_Mutation_p.N861K|SORCS1_uc009xxs.2_Missense_Mutation_p.N861K|SORCS1_uc001kyn.1_Missense_Mutation_p.N861K|SORCS1_uc001kyo.2_Missense_Mutation_p.N861K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	861	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGCCCACGTTCTGATAGA	0.493		NA											28	30					2.49e-11	3.2e-11	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486770	117486770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:117486770G>T	uc001lcg.2	+	27	4194	c.3808G>T	c.(3808-3810)GAA>TAA	p.E1270*	ATRNL1_uc010qsm.1_Nonsense_Mutation_p.E399*|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1270	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTGCTTCGAGAACGACAGCA	0.438		NA											25	42					2.13e-12	2.77e-12	1	0
MKI67	4288	broad.mit.edu	37	10	129901414	129901414	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:129901414T>A	uc001lke.2	-	13	8885	c.8690A>T	c.(8689-8691)GAT>GTT	p.D2897V	MKI67_uc001lkf.2_Missense_Mutation_p.D2537V|MKI67_uc009yav.1_Missense_Mutation_p.D2472V|MKI67_uc009yaw.1_Missense_Mutation_p.D2047V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2897	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAATTACATCTTCTGCGTC	0.557		NA											67	264					0	0	0	0
PKP3	11187	broad.mit.edu	37	11	404053	404053	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:404053G>A	uc001lpc.2	+	11	2264	c.2188G>A	c.(2188-2190)GTG>ATG	p.V730M		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	730	ARM 8.			V -> G (in Ref. 3; BAD97231).	cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACCTGGTGGTGGCCAGCCC	0.612		NA											35	128					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:1271606C>A	uc009ycr.1	+	51	15041	c.14915C>A	c.(14914-14916)TCC>TAC	p.S4972Y	MUC5B_uc001ltb.2_Missense_Mutation_p.S4502Y	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642		NA											77	119					3.71e-27	5.4e-27	1	0
ART1	417	broad.mit.edu	37	11	3681086	3681086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:3681086G>A	uc001lye.1	+	3	438	c.337G>A	c.(337-339)GAG>AAG	p.E113K	ART1_uc009yeb.1_Missense_Mutation_p.E113K	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	113					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTTCCGCGATGAGCATGGGGT	0.682		NA											14	40					0	0	0	0
OR52W1	120787	broad.mit.edu	37	11	6220867	6220867	+	Silent	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6220867T>A	uc010qzz.1	+	1	414	c.414T>A	c.(412-414)CCT>CCA	p.P138P		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACTACCCTGTCCTGGTCA	0.537		NA											13	75					0	0	0	0
DCHS1	8642	broad.mit.edu	37	11	6661920	6661920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6661920C>G	uc001mem.1	-	2	1335	c.925G>C	c.(925-927)GCA>CCA	p.A309P		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	309	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607		NA											38	81					0	0	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789752	6789752	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6789752G>T	uc001meq.1	-	1	437	c.437C>A	c.(436-438)GCC>GAC	p.A146D		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGATGTGGCCACCATGAT	0.507		NA											42	58					6.08e-31	8.94e-31	1	0
PTH	5741	broad.mit.edu	37	11	13513984	13513984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:13513984C>T	uc001mlb.2	-	3	431	c.316G>A	c.(316-318)GTG>ATG	p.V106M		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	106					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AATACATTCACATCAGCTTTG	0.428		NA											14	81					0	0	0	0
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:16071443G>C	uc001mme.2	-	11	1365	c.1332C>G	c.(1330-1332)CCC>CCG	p.P444P	SOX6_uc001mmd.2_Silent_p.P393P|SOX6_uc001mmf.2_Silent_p.P390P|SOX6_uc001mmg.2_Silent_p.P431P	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CTGCTGTCTTGGGTCGGGATG	0.463		NA											156	299					0	0	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673942	20673942	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:20673942C>T	uc001mqd.2	+	15	2451	c.2178C>T	c.(2176-2178)GTC>GTT	p.V726V	SLC6A5_uc009yic.2_Silent_p.V491V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	726	Helical; Name=12; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	CCTGTTCCGTCATCTGGATCC	0.473		NA											49	267					0	0	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387106	22387106	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22387106G>T	uc001mqk.2	+	7	1175	c.762G>T	c.(760-762)ATG>ATT	p.M254I		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	254	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GCTTTGGAATGGTCTGGTACA	0.398		NA											40	130					4.92e-23	7.02e-23	1	0
SLC17A6	57084	broad.mit.edu	37	11	22397537	22397537	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22397537T>G	uc001mqk.2	+	10	1597	c.1184T>G	c.(1183-1185)ATG>AGG	p.M395R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	395	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GGTTTTGGCATGGAAGCCACA	0.393		NA											52	90					0	0	0	0
DCDC1	341019	broad.mit.edu	37	11	31327905	31327905	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:31327905C>A	uc001msv.2	-	5	667	c.465G>T	c.(463-465)CAG>CAT	p.Q155H	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	155					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TCCGGGCTGACTGAAATTTTA	0.333		NA											14	46					1.5e-05	1.71e-05	1	0
OR5I1	10798	broad.mit.edu	37	11	55703542	55703542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55703542G>T	uc010ris.1	-	1	335	c.335C>A	c.(334-336)ACA>AAA	p.T112K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGGATTCTGTATCTGCAAA	0.438		NA											33	26					3.9e-15	5.22e-15	1	0
OR5J2	282775	broad.mit.edu	37	11	55944458	55944458	+	Missense_Mutation	SNP	G	G	T	rs151315491		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55944458G>T	uc010rjb.1	+	1	365	c.365G>T	c.(364-366)CGC>CTC	p.R122L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453		NA											71	68					1.56e-33	2.31e-33	1	0
OR5T1	390155	broad.mit.edu	37	11	56043301	56043301	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56043301G>T	uc001nio.1	+	1	187	c.187G>T	c.(187-189)GGG>TGG	p.G63W		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	63	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					ACCGATCATTGGGGATTTCTG	0.363		NA											23	74					1.5e-11	1.94e-11	1	0
OR5M3	219482	broad.mit.edu	37	11	56237387	56237387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56237387G>A	uc010rjk.1	-	1	587	c.587C>T	c.(586-588)ACA>ATA	p.T196I		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TATGATCATTGTATATTCTTT	0.408		NA											91	84					0	0	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995542	57995542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:57995542G>T	uc010rkd.1	-	1	806	c.806C>A	c.(805-807)TCC>TAC	p.S269Y		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				TGAGGTGCTGGACCGAGGACG	0.602		NA											26	31					4.72e-08	5.73e-08	1	0
C11orf48	79081	broad.mit.edu	37	11	62437249	62437249	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62437249C>G	uc001nue.2	-	3	612	c.177G>C	c.(175-177)CCG>CCC	p.P59P	C11orf48_uc001nuf.2_Silent_p.P59P|C11orf48_uc010rmd.1_Silent_p.P59P|C11orf83_uc001nui.3_5'Flank	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	85											0						CCACAATAGACGGCAGATGGG	0.537		NA											41	161					0	0	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751493	62751493	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62751493G>A	uc001nwk.2	-	2	703	c.396C>T	c.(394-396)GCC>GCT	p.A132A	SLC22A6_uc001nwl.2_Silent_p.A132A|SLC22A6_uc001nwj.2_Silent_p.A132A|SLC22A6_uc001nwm.2_Silent_p.A132A	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	132	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GCTGGCGTAGGGCCCTGTGAG	0.617		NA											19	18					0	0	0	0
SHANK2	22941	broad.mit.edu	37	11	70505947	70505947	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:70505947C>A	uc001oqc.2	-	14	2125	c.2047G>T	c.(2047-2049)GAC>TAC	p.D683Y	SHANK2_uc010rqn.1_Missense_Mutation_p.D95Y|SHANK2_uc001opz.2_Missense_Mutation_p.D95Y|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.D95Y	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	304	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCAAGAAGTCCCCGGTCCTT	0.587		NA											8	35					7.48e-07	8.86e-07	1	0
INPPL1	3636	broad.mit.edu	37	11	71942179	71942179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:71942179G>A	uc001osf.2	+	12	1590	c.1443G>A	c.(1441-1443)TGG>TGA	p.W481*	INPPL1_uc001osg.2_Nonsense_Mutation_p.W239*	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	481					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						ACCGCGAGTGGCTGGACCTAC	0.617		NA											158	263					0	0	0	0
DLG2	1740	broad.mit.edu	37	11	84996411	84996411	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:84996411T>A	uc001pak.2	-	4	353	c.41_splice	c.e4-1	p.D14_splice		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGATATCTGTAAAGAAAA	0.313		NA											25	77					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92498219	92498219	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:92498219C>A	uc001pdj.3	+	5	4176	c.4159C>A	c.(4159-4161)CAG>AAG	p.Q1387K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1387	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGTCTGTGCAGCCAGCTAA	0.423		NA								TCGA Ovarian(4;0.039)			8	27					0.00307968	0.00326572	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790286	133790286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:133790286G>A	uc001qgx.3	-	18	3565	c.3334C>T	c.(3334-3336)CCT>TCT	p.P1112S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1112	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACAGGGCCCCTGCCG	0.682		NA											5	59					0	0	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995443	1995443	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:1995443G>T	uc001qjp.2	-	8	1170	c.939C>A	c.(937-939)ACC>ACA	p.T313T	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	313	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGTGGTGATGGTGTGCTTGG	0.473		NA											11	79					7.04e-09	8.68e-09	1	0
CHD4	1108	broad.mit.edu	37	12	6690915	6690915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6690915G>C	uc001qpo.2	-	31	4745	c.4581C>G	c.(4579-4581)AAC>AAG	p.N1527K	CHD4_uc001qpn.2_Missense_Mutation_p.N1520K|CHD4_uc001qpp.2_Missense_Mutation_p.N1552K|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1527					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACATCTTCTTGTTTTCCTCCA	0.547		NA											54	193					0	0	0	0
LRRC23	10233	broad.mit.edu	37	12	7016479	7016479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:7016479G>A	uc001qrt.3	+	5	883	c.491G>A	c.(490-492)GGG>GAG	p.G164E	LRRC23_uc001qrn.1_Missense_Mutation_p.G164E|LRRC23_uc001qrp.2_Missense_Mutation_p.G164E|LRRC23_uc001qrq.2_Missense_Mutation_p.G164E|LRRC23_uc001qrr.2_Missense_Mutation_p.G113E|LRRC23_uc001qrs.2_Missense_Mutation_p.G113E|LRRC23_uc009zfh.2_Intron	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	164	LRR 4.									ovary(1)	1						TCCTCCCCAGGGAACAGCATC	0.547		NA											118	187					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20769239	20769239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:20769239G>T	uc001reh.1	+	4	1367	c.1345G>T	c.(1345-1347)GGT>TGT	p.G449C		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTCGGCCACAGGTCTACCCAC	0.562		NA											73	102					5.02e-34	7.48e-34	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21375295	21375295	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:21375295C>T	uc001req.3	+	13	1848	c.1744C>T	c.(1744-1746)CTA>TTA	p.L582L		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	582	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATACGAGCACTAGGTATGAT	0.204		NA											22	69					0	0	0	0
MCRS1	10445	broad.mit.edu	37	12	49952509	49952509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:49952509C>T	uc001ruk.1	-	15	1497	c.1306G>A	c.(1306-1308)GCC>ACC	p.A436T	MCRS1_uc001rui.1_Missense_Mutation_p.A449T|MCRS1_uc001ruj.1_Missense_Mutation_p.A423T|MCRS1_uc001rul.1_Missense_Mutation_p.A436T|MCRS1_uc009zlj.1_Missense_Mutation_p.A245T|MCRS1_uc001rum.1_Missense_Mutation_p.A423T	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	436					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						CGCAGGCTGGCGATCTGGGTG	0.577		NA											41	79					0	0	0	0
KRT2	3849	broad.mit.edu	37	12	53045402	53045402	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:53045402C>T	uc001sat.2	-	1	558	c.525G>A	c.(523-525)AAG>AAA	p.K175K		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	175	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCTTGGGCCTTCACATTCT	0.532		NA											62	156					0	0	0	0
KIF5A	3798	broad.mit.edu	37	12	57974825	57974825	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:57974825G>A	uc001sor.1	+	24	2833	c.2625G>A	c.(2623-2625)CTG>CTA	p.L875L	KIF5A_uc010srr.1_Silent_p.L786L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	875					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TTAAGGCCCTGGAGGGTGCAC	0.572		NA											19	49					0	0	0	0
AVPR1A	552	broad.mit.edu	37	12	63544528	63544528	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:63544528C>G	uc001sro.1	-	1	2063	c.89G>C	c.(88-90)CGG>CCG	p.R30P		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	30	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCGGCCTCCCGGCTTGTGTT	0.706		NA											23	91					0	0	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216208	77216208	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:77216208C>A	uc001syk.1	+	8	957	c.794C>A	c.(793-795)GCA>GAA	p.A265E	ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	265	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						CTTGATTTGGCAAAACAGAGA	0.363		NA											19	46					1.98e-07	2.38e-07	1	0
NAV3	89795	broad.mit.edu	37	12	78444924	78444924	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:78444924G>C	uc001syp.2	+	11	2686	c.2513G>C	c.(2512-2514)AGT>ACT	p.S838T	NAV3_uc001syo.2_Missense_Mutation_p.S838T|NAV3_uc010sub.1_Missense_Mutation_p.S338T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	838						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GACATCAACAGTGGGTAAGTA	0.453		NA								HNSCC(70;0.22)			32	66					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81610681	81610681	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81610681G>T	uc001szl.1	+	10	1447	c.1356G>T	c.(1354-1356)GAG>GAT	p.E452D	ACSS3_uc001szm.1_Missense_Mutation_p.E451D|ACSS3_uc001szn.1_Missense_Mutation_p.E134D	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	452						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TTTTTCCAGAGACTGGATCTC	0.408		NA											20	92					8.05e-18	1.11e-17	1	0
MRPL42	28977	broad.mit.edu	37	12	93873224	93873224	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:93873224G>C	uc001tcr.2	+	4	353	c.195G>C	c.(193-195)GTG>GTC	p.V65V	MRPL42_uc001tcq.2_Silent_p.V65V|MRPL42_uc001tcs.2_Silent_p.V65V|MRPL42_uc001tct.2_RNA	NM_172177	NP_751917	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42 isoform a	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			ovary(2)	2						ACCCTTCTGTGGACATTCCAT	0.328		NA											33	68					0	0	0	0
SLC41A2	84102	broad.mit.edu	37	12	105260337	105260337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:105260337G>T	uc001tla.2	-	6	1215	c.1048C>A	c.(1048-1050)CCA>ACA	p.P350T		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	350	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCAACTAATGGAGAAATGTAG	0.343		NA											40	71					4.92e-23	7.02e-23	1	0
BTBD11	121551	broad.mit.edu	37	12	108051315	108051315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:108051315T>A	uc001tmk.1	+	17	3656	c.3135T>A	c.(3133-3135)TAT>TAA	p.Y1045*	BTBD11_uc001tml.1_Nonsense_Mutation_p.Y582*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Y124*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1045						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCTCAGCATATTGCGAAGGCT	0.463		NA											33	66					0	0	0	0
KSR2	283455	broad.mit.edu	37	12	118198938	118198938	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:118198938C>T	uc001two.2	-	4	832	c.777G>A	c.(775-777)CCG>CCA	p.P259P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	288	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTCCCCGGGGGCTTCA	0.682		NA											70	425					0	0	0	0
ACADS	35	broad.mit.edu	37	12	121175737	121175737	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:121175737G>C	uc001tza.3	+	5	688	c.570G>C	c.(568-570)TGG>TGC	p.W190C	ACADS_uc010szl.1_Intron|ACADS_uc001tzb.3_Missense_Mutation_p.W117C	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	190						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAATGCCTGGGAGGCTTCGG	0.642		NA											29	82					0	0	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494588	123494588	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:123494588T>A	uc001uej.1	-	5	591	c.452A>T	c.(451-453)AAC>ATC	p.N151I	PITPNM2_uc001uek.1_Missense_Mutation_p.N151I|PITPNM2_uc009zxu.1_Missense_Mutation_p.N151I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	151					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTTATACTCGTTGTGGGGCAC	0.557		NA											91	197					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138491	126138491	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:126138491G>A	uc001uhe.1	+	9	2480	c.2472G>A	c.(2470-2472)CAG>CAA	p.Q824Q	TMEM132B_uc001uhf.1_Silent_p.Q336Q	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	824	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAACCAGGAGAGAGCAG	0.502		NA											32	111					0	0	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24233278	24233278	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:24233278G>A	uc001uov.1	+	6	599	c.535G>A	c.(535-537)GCC>ACC	p.A179T	TNFRSF19_uc001uot.2_Missense_Mutation_p.A179T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A47T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A179T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	179	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CAGCGCTCTGGCCACCGTCCT	0.552		NA											28	45					0	0	0	0
ATP12A	479	broad.mit.edu	37	13	25262596	25262596	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25262596C>T	uc001upp.2	+	4	555	c.368C>T	c.(367-369)GCC>GTC	p.A123V	ATP12A_uc010aaa.2_Missense_Mutation_p.A123V	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	123	Helical; (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGGTGGGCGCCTTTCTCTGT	0.572		NA											241	406					0	0	0	0
NUPL1	9818	broad.mit.edu	37	13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25901160A>G	uc001uqi.2	+	11	1384	c.1138A>G	c.(1138-1140)ATA>GTA	p.I380V	NUPL1_uc001uqg.1_Missense_Mutation_p.I380V|NUPL1_uc001uqj.2_Missense_Mutation_p.I368V	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	380	14 X 2 AA repeats of F-G.|Potential.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363		NA											35	126					0	0	0	0
ATP8A2	51761	broad.mit.edu	37	13	26413696	26413696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:26413696C>T	uc001uqk.2	+	30	3032	c.2890C>T	c.(2890-2892)CAC>TAC	p.H964Y	ATP8A2_uc010tdi.1_Missense_Mutation_p.H899Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.H514Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	924	Helical; (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGGTCACTGCATCAA	0.498		NA											26	202					0	0	0	0
KATNAL1	84056	broad.mit.edu	37	13	30784522	30784522	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:30784522T>A	uc001uss.2	-	10	1306	c.1205A>T	c.(1204-1206)GAT>GTT	p.D402V	KATNAL1_uc001ust.2_Missense_Mutation_p.D402V	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	402						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGTTGAATATCAGGATCTAA	0.378		NA											22	113					0	0	0	0
USPL1	10208	broad.mit.edu	37	13	31233367	31233367	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:31233367A>G	uc001utc.2	+	9	3585	c.3153A>G	c.(3151-3153)TTA>TTG	p.L1051L	USPL1_uc001utd.2_Silent_p.L722L|USPL1_uc001ute.1_Silent_p.L722L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1051					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTAGAACATTAAACTTGGAGA	0.398		NA											29	120					0	0	0	0
PDS5B	23047	broad.mit.edu	37	13	33344509	33344509	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:33344509G>T	uc010abf.2	+	32	4033	c.3875G>T	c.(3874-3876)CGA>CTA	p.R1292L	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1292	A.T hook 2.				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGAGGCCGACCACCAAAA	0.418		NA											9	41					7.48e-07	8.86e-07	1	0
NBEA	26960	broad.mit.edu	37	13	35733576	35733576	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:35733576G>C	uc001uvb.2	+	23	3474	c.3268G>C	c.(3268-3270)GTG>CTG	p.V1090L	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1090						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)		TGGTGCCCTTGTGGAGGTTGA	0.383		NA											11	41					0	0	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049804	36049804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36049804C>T	uc001uvc.2	-	1	1029	c.472G>A	c.(472-474)GTG>ATG	p.V158M	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	158					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCAGTTTCACTTCGCTGGTG	0.572		NA											35	56					0	0	0	0
DCLK1	9201	broad.mit.edu	37	13	36700076	36700076	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36700076G>T	uc001uvf.2	-	2	432	c.199C>A	c.(199-201)CGA>AGA	p.R67R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	67	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGAAGTATCGATCTCCGTTT	0.547		NA											29	124					8.58e-18	1.19e-17	1	0
NEK5	341676	broad.mit.edu	37	13	52650229	52650229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:52650229A>T	uc001vge.2	-	19	1838	c.1698T>A	c.(1696-1698)AGT>AGA	p.S566R		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	566							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGGATTTTTACTTTCCTTTG	0.348		NA											24	42					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:58208417C>T	uc001vhq.1	+	1	2629	c.1737C>T	c.(1735-1737)AAC>AAT	p.N579N	PCDH17_uc010aec.1_Silent_p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	579	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642		NA											11	69					0	0	0	0
NALCN	259232	broad.mit.edu	37	13	101844272	101844272	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:101844272G>T	uc001vox.1	-	14	1949	c.1760C>A	c.(1759-1761)ACT>AAT	p.T587N	NALCN_uc001voy.2_Missense_Mutation_p.T302N|NALCN_uc001voz.2_Missense_Mutation_p.T587N|NALCN_uc001vpa.2_Missense_Mutation_p.T587N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	587	Helical; Name=S6 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTCACCAGAGTGGCAAAAAG	0.393		NA											19	18					1.56e-14	2.07e-14	1	0
FAM155A	728215	broad.mit.edu	37	13	107862932	107862932	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:107862932C>T	uc001vql.2	-	2	1603	c.1087G>A	c.(1087-1089)GGG>AGG	p.G363R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	363						integral to membrane	binding			skin(1)	1						GGCACTGTACCTGTACAGATG	0.458		NA											29	51					0	0	0	0
OR4M1	441670	broad.mit.edu	37	14	20248711	20248711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20248711C>A	uc010tku.1	+	1	230	c.230C>A	c.(229-231)ACA>AAA	p.T77K		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCATTACAGCCCCTAAA	0.438		NA											208	590					2.46e-77	3.77e-77	1	0
OR4K2	390431	broad.mit.edu	37	14	20344521	20344521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20344521C>T	uc001vwh.1	+	1	95	c.95C>T	c.(94-96)TCA>TTA	p.S32L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGGTGTTTTCATTGCTTTAT	0.413		NA											188	525					0	0	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928404	20928404	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20928404A>T	uc001vxl.2	-	3	540	c.387T>A	c.(385-387)TGT>TGA	p.C129*	TMEM55B_uc001vxk.2_Nonsense_Mutation_p.C136*	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	129						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AGATAAGGAGACAGTTACAGG	0.493		NA											10	89					0	0	0	0
SUPT16H	11198	broad.mit.edu	37	14	21831310	21831310	+	Splice_Site	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:21831310T>G	uc001wao.2	-	13	1735	c.1396_splice	c.e13-1	p.N466_splice		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTTCATTCTGGTGAATGGA	0.388		NA											39	163					0	0	0	0
C14orf119	55017	broad.mit.edu	37	14	23567116	23567116	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:23567116T>C	uc001wiu.2	+	2	291	c.249T>C	c.(247-249)TCT>TCC	p.S83S	ACIN1_uc001wit.3_5'Flank|ACIN1_uc010akg.2_5'Flank|ACIN1_uc010tnj.1_5'Flank	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	83											0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		TTAGTGTGTCTGGGGCAGACC	0.527		NA											41	167					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30066838	30066838	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:30066838C>T	uc001wqh.2	-	16	2474	c.2293G>A	c.(2293-2295)GAC>AAC	p.D765N		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	765	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCACATGTCTAGAGAGCGA	0.493		NA											34	157					0	0	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917324	58917324	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:58917324G>A	uc001xdv.3	+	8	1262	c.989G>A	c.(988-990)AGT>AAT	p.S330N	KIAA0586_uc010trr.1_Missense_Mutation_p.S371N|KIAA0586_uc001xdt.3_Missense_Mutation_p.S286N|KIAA0586_uc001xdu.3_Missense_Mutation_p.S315N|KIAA0586_uc010trs.1_Missense_Mutation_p.S245N|KIAA0586_uc010trt.1_Missense_Mutation_p.S190N|KIAA0586_uc010tru.1_Missense_Mutation_p.S190N	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	330										ovary(1)	1						GAAGATACGAGTTTTGATAAA	0.328		NA											16	33					0	0	0	0
DCAF5	8816	broad.mit.edu	37	14	69529205	69529205	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:69529205C>G	uc001xkp.2	-	8	1189	c.970G>C	c.(970-972)GGA>CGA	p.G324R	DCAF5_uc001xkq.2_Missense_Mutation_p.G323R	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	324						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						ATGAAGGCTCCGTTGACCACC	0.413		NA											12	93					0	0	0	0
ZNF410	57862	broad.mit.edu	37	14	74371737	74371737	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:74371737G>A	uc001xoz.1	+	7	1046	c.864G>A	c.(862-864)AAG>AAA	p.K288K	ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_Silent_p.K19K|ZNF410_uc010tuh.1_Silent_p.K215K|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Silent_p.K305K|ZNF410_uc001xpa.1_Silent_p.K92K|ZNF410_uc001xpb.1_Silent_p.K288K|ZNF410_uc001xpc.1_Silent_p.K235K|ZNF410_uc010tuj.1_Silent_p.K92K	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527		NA											24	97					0	0	0	0
C14orf145	145508	broad.mit.edu	37	14	81259118	81259118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:81259118C>T	uc001xux.2	-	13	1717	c.1546G>A	c.(1546-1548)GGC>AGC	p.G516S	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	516	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTATTCTTGCCTGTCAGTTCA	0.383		NA											39	212					0	0	0	0
ZC3H14	79882	broad.mit.edu	37	14	89041109	89041109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:89041109G>T	uc001xww.2	+	7	1159	c.934G>T	c.(934-936)GGA>TGA	p.G312*	ZC3H14_uc010twd.1_Nonsense_Mutation_p.G312*|ZC3H14_uc010twe.1_Nonsense_Mutation_p.G312*|ZC3H14_uc001xwx.2_Nonsense_Mutation_p.G312*|ZC3H14_uc010twf.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xwy.2_Nonsense_Mutation_p.G278*|ZC3H14_uc010twg.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xxa.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	312						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						CAATCATGATGGAGAAGAGGA	0.413		NA											10	55					0.000442599	0.000482734	1	0
CCDC88C	440193	broad.mit.edu	37	14	91763774	91763774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:91763774C>T	uc010aty.2	-	22	3940	c.3841G>A	c.(3841-3843)GAG>AAG	p.E1281K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1281	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GTTTTCAGCTCCTTGGTGTGG	0.547		NA											5	6					0	0	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958015	92958015	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958015G>T	uc001yak.2	+	15	1517	c.1493G>T	c.(1492-1494)GGG>GTG	p.G498V	SLC24A4_uc001yai.2_Missense_Mutation_p.G451V|SLC24A4_uc010twm.1_Missense_Mutation_p.G496V|SLC24A4_uc001yaj.2_Missense_Mutation_p.G479V|SLC24A4_uc010auj.2_Missense_Mutation_p.G387V|SLC24A4_uc010twn.1_Missense_Mutation_p.G271V|SLC24A4_uc001yan.2_Missense_Mutation_p.G209V	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	515	Cytoplasmic (Potential).|Alpha-2.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGCCTTGGGGACATGGCA	0.478		NA											28	67					8.58e-18	1.19e-17	1	0
SLC24A4	123041	broad.mit.edu	37	14	92958081	92958081	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958081C>A	uc001yak.2	+	15	1583	c.1559C>A	c.(1558-1560)CCG>CAG	p.P520Q	SLC24A4_uc001yai.2_Missense_Mutation_p.P473Q|SLC24A4_uc010twm.1_Missense_Mutation_p.P518Q|SLC24A4_uc001yaj.2_Missense_Mutation_p.P501Q|SLC24A4_uc010auj.2_Missense_Mutation_p.P409Q|SLC24A4_uc010twn.1_Missense_Mutation_p.P293Q|SLC24A4_uc001yan.2_Missense_Mutation_p.P231Q	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	537	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTGGTGTACCGTGGGGCCTG	0.483		NA											34	93					6.71e-13	8.8e-13	1	0
SERPINA3	12	broad.mit.edu	37	14	95080961	95080961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:95080961C>A	uc001ydp.2	+	2	262	c.183C>A	c.(181-183)TAC>TAA	p.Y61*	SERPINA3_uc001ydo.3_Nonsense_Mutation_p.Y86*|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc001yds.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc010avg.2_Nonsense_Mutation_p.Y61*	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	61					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAGCCTGTACAAGCAGTTAG	0.557		NA											80	127					1.43e-34	2.13e-34	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102453804	102453804	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:102453804G>T	uc001yks.2	+	9	2717	c.2553G>T	c.(2551-2553)CTG>CTT	p.L851L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	851	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						ATGATCTGCTGATCATTGAAG	0.353		NA											21	61					7.45e-12	9.65e-12	1	0
TDRD9	122402	broad.mit.edu	37	14	104474748	104474748	+	Splice_Site	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:104474748A>C	uc001yom.3	+	20	2083	c.2053_splice	c.e20-2	p.D685_splice	TDRD9_uc001yon.3_Splice_Site_p.D423_splice	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATATTTAAAGGATGAACTT	0.264		NA											32	57					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408280	105408280	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:105408280T>C	uc010axc.1	-	7	13628	c.13508A>G	c.(13507-13509)CAG>CGG	p.Q4503R	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4403R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4503						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCCCCCTGCATGGAGGG	0.597		NA											42	211					0	0	0	0
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:22382673C>A	uc001yuc.1	+	7	1182	c.201C>A	c.(199-201)GCC>GCA	p.A67A	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483		NA											25	499					1.46e-29	2.14e-29	1	0
C15orf2	23742	broad.mit.edu	37	15	24921726	24921726	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:24921726G>C	uc001ywo.2	+	1	1186	c.712G>C	c.(712-714)GCC>CCC	p.A238P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	238					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGAAGGCCCTGCCATGCCCAG	0.622		NA											24	40					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25959218	25959218	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:25959218G>A	uc010ayu.2	-	10	2053	c.1947C>T	c.(1945-1947)GGC>GGT	p.G649G		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	649	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGAGAAGCATGCCGTCGCTGG	0.677		NA											22	43					0	0	0	0
FMN1	342184	broad.mit.edu	37	15	33261044	33261044	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:33261044G>T	uc001zhf.3	-	4	2189	c.2189C>A	c.(2188-2190)CCC>CAC	p.P730H		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	953	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGAGGTGGGGGTGCAAGTCC	0.522		NA											26	56					4.27e-12	5.54e-12	1	0
ACTC1	70	broad.mit.edu	37	15	35085611	35085611	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:35085611G>C	uc001ziu.1	-	3	532	c.289C>G	c.(289-291)CGT>GGT	p.R97G	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	97			R -> C (in CMH11).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGAGCCACACGGAGCTCATTG	0.562		NA											72	119					0	0	0	0
MEIS2	4212	broad.mit.edu	37	15	37388489	37388489	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:37388489C>A	uc001zjr.2	-	3	1424	c.387_splice	c.e3+1	p.Q129_splice	MEIS2_uc001zjl.2_Splice_Site_p.Q116_splice|MEIS2_uc010ucj.1_Splice_Site_p.Q116_splice|MEIS2_uc001zjm.2_Splice_Site_p.Q41_splice|MEIS2_uc001zjn.2_Intron|MEIS2_uc001zjo.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjp.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjs.2_Splice_Site_p.Q129_splice|MEIS2_uc001zju.2_Splice_Site_p.Q116_splice|MEIS2_uc001zjt.2_Splice_Site_p.Q129_splice	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGGCTGGACCTGCTTGGCG	0.607		NA											4	24					0.00024832	0.000272669	1	0
C15orf33	196951	broad.mit.edu	37	15	49869035	49869035	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:49869035C>A	uc001zxl.2	-	7	743	c.449G>T	c.(448-450)AGC>ATC	p.S150I	C15orf33_uc001zxm.2_Missense_Mutation_p.S150I	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	150										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TCCTGTGAAGCTGCAACCCTA	0.328		NA											18	27					3.53e-06	4.07e-06	1	0
UNC13C	440279	broad.mit.edu	37	15	54307972	54307972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:54307972C>T	uc002ack.2	+	1	2872	c.2872C>T	c.(2872-2874)CAG>TAG	p.Q958*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	958					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)		CATTCCTGAACAGCCAGTGGA	0.403		NA											4	21					0	0	0	0
IQCH	64799	broad.mit.edu	37	15	67652185	67652185	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:67652185G>T	uc002aqo.1	+	8	762	c.715G>T	c.(715-717)GGG>TGG	p.G239W	IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Missense_Mutation_p.G66W|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	239										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TTCATTGTAGGGGAAAAGCAG	0.418		NA											26	186					3.73e-12	4.86e-12	1	0
ETFA	2108	broad.mit.edu	37	15	76588079	76588079	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:76588079C>A	uc002bbt.2	-	2	121	c.40_splice	c.e2-1	p.A14_splice	ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Splice_Site_p.A14_splice	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0						GCAATGAGGCCTAAAAAGAGC	0.353		NA											16	49					6.94e-10	8.75e-10	1	0
FAH	2184	broad.mit.edu	37	15	80450432	80450432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:80450432G>A	uc002bfj.2	+	3	194	c.112G>A	c.(112-114)GAC>AAC	p.D38N	FAH_uc002bfk.1_Missense_Mutation_p.D38N|FAH_uc002bfm.1_Missense_Mutation_p.D38N|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Missense_Mutation_p.D38N|FAH_uc002bfl.1_Missense_Mutation_p.D38N	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	38					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						GGCCATTGGCGACCAGATCCT	0.527		NA							Tyrosinemia_type_1				41	202					0	0	0	0
TMC3	342125	broad.mit.edu	37	15	81650821	81650821	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:81650821A>T	uc002bgo.1	-	6	522	c.522T>A	c.(520-522)TTT>TTA	p.F174L	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.F174L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	174	Extracellular (Potential).					integral to membrane				ovary(1)|liver(1)	2						CTGTGCTTCCAAAGGGCTGGC	0.567		NA											8	30					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83333627	83333627	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83333627G>T	uc010uoh.1	-	17	2217	c.2040C>A	c.(2038-2040)GAC>GAA	p.D680E	AP3B2_uc010uoi.1_Missense_Mutation_p.D699E|AP3B2_uc010uoj.1_Missense_Mutation_p.D648E|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.D316E|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	680	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCCCTCAGAGTCCGAGTAGA	0.567		NA											3	21					0.004672	0.00490617	1	0
AP3B2	8120	broad.mit.edu	37	15	83335614	83335614	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83335614C>A	uc010uoh.1	-	15	1914	c.1737G>T	c.(1735-1737)GCG>GCT	p.A579A	AP3B2_uc010uoi.1_Silent_p.A579A|AP3B2_uc010uoj.1_Silent_p.A547A|AP3B2_uc010uog.1_Silent_p.A215A	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	579					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGTGAAGCGCGCCCGGTCGC	0.597		NA											28	92					1.04e-07	1.26e-07	1	0
SPATA8	145946	broad.mit.edu	37	15	97327404	97327404	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:97327404A>G	uc002bue.2	+	2	321	c.111A>G	c.(109-111)TCA>TCG	p.S37S	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	37										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GACATTTCTCAGAAGCCATGA	0.582		NA											34	86					0	0	0	0
PIGQ	9091	broad.mit.edu	37	16	632905	632905	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:632905G>T	uc002cho.2	+	10	1656	c.1554G>T	c.(1552-1554)CCG>CCT	p.P518P	PIGQ_uc010bqw.2_Missense_Mutation_p.R539L|PIGQ_uc002chn.2_Missense_Mutation_p.R539L|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.P88P|uc010uuj.1_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	518	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				CCCTACAGCCGCGTGGTGCAC	0.667		NA											103	145					4.85e-53	7.41e-53	1	0
CEMP1	752014	broad.mit.edu	37	16	2580803	2580803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:2580803C>T	uc002cqr.2	-	1	628	c.272G>A	c.(271-273)TGT>TAT	p.C91Y	AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	91						cytoplasm				skin(1)	1						TCTCAGCCCACAAGCCCCAGG	0.657		NA											29	47					0	0	0	0
XYLT1	64131	broad.mit.edu	37	16	17202577	17202577	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:17202577A>G	uc002dfa.2	-	12	2940	c.2855T>C	c.(2854-2856)GTC>GCC	p.V952A		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	952	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						ATCAGGTTTGACTGCCCCCAG	0.662		NA											5	42					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801674	24801674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:24801674G>A	uc002dmm.2	+	6	1825	c.1711G>A	c.(1711-1713)GGT>AGT	p.G571S	TNRC6A_uc010bxs.2_Missense_Mutation_p.G318S|TNRC6A_uc010vcc.1_Missense_Mutation_p.G318S|TNRC6A_uc002dmn.2_Missense_Mutation_p.G318S|TNRC6A_uc002dmo.2_Missense_Mutation_p.G318S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	571	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AAACAAAGGAGGTGGTGTGTG	0.488		NA											27	96					0	0	0	0
ZNF720	124411	broad.mit.edu	37	16	31733987	31733987	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:31733987G>T	uc002ecn.3	+	2	248	c.44G>T	c.(43-45)CGG>CTG	p.R15L	ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.R17L	NM_001130913	NP_001124385	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	15	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						GAATTCTCTCGGGAGGAGTGG	0.458		NA											31	123					9.86e-13	1.29e-12	1	0
ABCC11	85320	broad.mit.edu	37	16	48232119	48232119	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48232119C>T	uc002eff.1	-	15	2500	c.2150G>A	c.(2149-2151)AGT>AAT	p.S717N	ABCC11_uc002efg.1_Missense_Mutation_p.S717N|ABCC11_uc002efh.1_Missense_Mutation_p.S717N|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	717	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTAACTCACTGTGAGTTCC	0.403		NA							Cerumen_Type				30	150					0	0	0	0
LONP2	83752	broad.mit.edu	37	16	48278415	48278415	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48278415T>A	uc002efi.1	+	1	205	c.116T>A	c.(115-117)CTG>CAG	p.L39Q	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.L39Q|ABCC11_uc010vgl.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	39	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GCCCGCAACCTGCAGCTGGTG	0.701		NA											6	5					0	0	0	0
ZNF423	23090	broad.mit.edu	37	16	49669635	49669635	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:49669635T>A	uc002efs.2	-	5	3726	c.3428A>T	c.(3427-3429)CAC>CTC	p.H1143L	ZNF423_uc010vgn.1_Missense_Mutation_p.H1026L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1143	C2H2-type 26.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GAGGTCACGGTGGTCCACCTG	0.672		NA											35	181					0	0	0	0
HP	3240	broad.mit.edu	37	16	72094424	72094424	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:72094424C>A	uc002fbr.3	+	7	900	c.856C>A	c.(856-858)CGA>AGA	p.R286R	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.R227R|HP_uc002fbt.3_Silent_p.R227R|HP_uc002fbu.1_Silent_p.R24R|HP_uc002fbv.3_Silent_p.R197R|HP_uc002fbw.3_Silent_p.R108R|HP_uc002fbx.3_Silent_p.R108R|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	286	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGGCTGGGGGCGAAATGCCAA	0.468		NA											39	33					6.29e-14	8.33e-14	1	0
ZNF778	197320	broad.mit.edu	37	16	89294059	89294059	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:89294059G>T	uc002fmv.2	+	6	1618	c.1279G>T	c.(1279-1281)GGG>TGG	p.G427W	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G385W|ZNF778_uc010vpg.1_Missense_Mutation_p.G190W	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	427	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGCGGGAAAGCCTT	0.502		NA											21	109					1.11e-09	1.39e-09	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4442815	4442815	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4442815C>G	uc002fyb.3	-	26	3944	c.3882G>C	c.(3880-3882)GCG>GCC	p.A1294A	MYBBP1A_uc002fxz.3_Silent_p.A1294A|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Silent_p.A239A|MYBBP1A_uc010vsa.1_Silent_p.A336A	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1294	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TCCGTGCCAGCGCGGACAGTG	0.582		NA											92	398					0	0	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646665	4646665	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4646665G>C	uc002fyt.2	+	6	1251	c.1212G>C	c.(1210-1212)TGG>TGC	p.W404C	ZMYND15_uc002fyv.2_Missense_Mutation_p.W404C|ZMYND15_uc002fyu.2_Missense_Mutation_p.W404C	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	404							zinc ion binding				0						GTGGCTATTGGACCCAGCTCA	0.612		NA											139	270					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:7577046C>A	uc002gim.2	-	8	1086	c.892G>T	c.(892-894)GAG>TAG	p.E298*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	298	Interaction with HIPK1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567		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)			97	62					2.29e-32	3.38e-32	1	0
MYH13	8735	broad.mit.edu	37	17	10267796	10267796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10267796G>A	uc002gmk.1	-	3	142	c.52C>T	c.(52-54)CGG>TGG	p.R18W		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	18	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCTGGTTTCCGGAGGTAGGGA	0.493		NA											16	13					0	0	0	0
MYH3	4621	broad.mit.edu	37	17	10545739	10545739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10545739G>A	uc002gmq.1	-	15	1960	c.1883C>T	c.(1882-1884)GCG>GTG	p.A628V		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	628	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CTTACCATCCGCCGTGGCAAA	0.507		NA											16	102					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11543689	11543689	+	Missense_Mutation	SNP	G	G	C	rs111906560	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11543689G>C	uc002gne.2	+	10	1957	c.1889G>C	c.(1888-1890)CGC>CCC	p.R630P		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	630	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)		AACTTTGGACGCATCACACAC	0.557		NA											37	179					0	0	0	0
ZNF18	7566	broad.mit.edu	37	17	11895761	11895761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11895761C>T	uc002gng.1	-	4	991	c.386G>A	c.(385-387)TGG>TAG	p.W129*	ZNF18_uc002gnh.1_Nonsense_Mutation_p.W129*|ZNF18_uc002gni.1_Nonsense_Mutation_p.W129*	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	129					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTGCTTACCCATTGCCACAG	0.458		NA											44	79					0	0	0	0
SLC5A10	125206	broad.mit.edu	37	17	18862478	18862478	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:18862478G>T	uc002guu.1	+	3	255	c.214G>T	c.(214-216)GGC>TGC	p.G72C	SLC5A10_uc002gur.1_Missense_Mutation_p.G16C|SLC5A10_uc002gut.1_Missense_Mutation_p.G72C|SLC5A10_uc002guv.1_Missense_Mutation_p.G72C|SLC5A10_uc010vyl.1_Missense_Mutation_p.G72C	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	72	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CAGCAGCGAGGGCTCTGGCCT	0.652		NA											13	58					7.88e-20	1.1e-19	1	0
C17orf57	124989	broad.mit.edu	37	17	45419337	45419337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:45419337C>T	uc002iln.2	+	6	653	c.242C>T	c.(241-243)TCA>TTA	p.S81L	ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Missense_Mutation_p.S81L|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S81L	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	81							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TCTGATTTTTCAGGAGAAAAA	0.289		NA											15	41					0	0	0	0
NGFR	4804	broad.mit.edu	37	17	47589374	47589374	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:47589374G>A	uc002ioz.3	+	5	1067	c.942G>A	c.(940-942)CTG>CTA	p.L314L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	314	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCAGAGCCTGCATGACCAGC	0.637		NA											20	27					0	0	0	0
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:49713340A>G	uc002itw.3	-	7	1651	c.665T>C	c.(664-666)ATA>ACA	p.I222T	CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTTCCTCTATATTAAGCCC	0.368		NA											33	109					0	0	0	0
PSMC5	5705	broad.mit.edu	37	17	61905529	61905529	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:61905529G>T	uc002jcb.2	+	2	97	c.56G>T	c.(55-57)GGA>GTA	p.G19V	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_5'UTR|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.G11V|PSMC5_uc002jcd.2_Missense_Mutation_p.G11V	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						GCAGGCAGCGGACTCCGCCAA	0.542		NA											29	65					8.17e-17	1.12e-16	1	0
SCN4A	6329	broad.mit.edu	37	17	62049720	62049720	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049720G>A	uc002jds.1	-	2	461	c.384C>T	c.(382-384)CTC>CTT	p.L128L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	128	I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ATGCATGGATGAGCACCTTGA	0.612		NA											6	29					0	0	0	0
SCN4A	6329	broad.mit.edu	37	17	62049989	62049989	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049989G>T	uc002jds.1	-	1	290	c.213C>A	c.(211-213)CCC>CCA	p.P71P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	71					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CCTCCGGCGGGGGGTCTCCGT	0.542		NA											3	15					6.4e-05	7.16e-05	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62855907	62855907	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62855907C>A	uc002jey.2	-	11	4888	c.4357G>T	c.(4357-4359)GAC>TAC	p.D1453Y	LRRC37A3_uc010wqg.1_Missense_Mutation_p.D571Y|LRRC37A3_uc002jex.1_Missense_Mutation_p.D430Y|LRRC37A3_uc010wqf.1_Missense_Mutation_p.D491Y|LRRC37A3_uc010dek.1_Missense_Mutation_p.D459Y	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1453	Extracellular (Potential).					integral to membrane					0						GGGGACAGGTCAGTGCCCACG	0.502		NA											26	125					1.14e-10	1.45e-10	1	0
HELZ	9931	broad.mit.edu	37	17	65147297	65147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:65147297C>T	uc010wqk.1	-	18	2411	c.2224G>A	c.(2224-2226)GTG>ATG	p.V742M	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V741M	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGATGCACAACTGGGTGG	0.378		NA											31	153					0	0	0	0
SOX9	6662	broad.mit.edu	37	17	70120399	70120399	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:70120399C>A	uc002jiw.2	+	3	1773	c.1401C>A	c.(1399-1401)ACC>ACA	p.T467T		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	467					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCACCTTCACCTACATGAACC	0.642		NA											29	135					0.000184323	0.000203949	1	0
UBE2O	63893	broad.mit.edu	37	17	74388027	74388027	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:74388027C>G	uc002jrm.3	-	16	3179	c.3114G>C	c.(3112-3114)AAG>AAC	p.K1038N	UBE2O_uc002jrl.3_Missense_Mutation_p.K642N	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1038							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						TGACACACACCTTCCCATTGT	0.607		NA											8	27					0	0	0	0
TBC1D16	125058	broad.mit.edu	37	17	77914883	77914883	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:77914883G>A	uc002jxj.2	-	12	2195	c.2079C>T	c.(2077-2079)TTC>TTT	p.F693F	uc002jxg.1_5'Flank|TBC1D16_uc002jxh.2_Silent_p.F331F|TBC1D16_uc002jxi.2_Silent_p.F318F	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	693						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCGGAACTGGTACA	0.677		NA											3	18					0	0	0	0
TMEM105	284186	broad.mit.edu	37	17	79287662	79287662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:79287662G>A	uc002kad.1	-	3	729	c.179C>T	c.(178-180)CCA>CTA	p.P60L		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	60						integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			AGACCGAGGTGGGGACCCCTG	0.632		NA											28	131					0	0	0	0
LAMA1	284217	broad.mit.edu	37	18	6956666	6956666	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:6956666C>A	uc002knm.2	-	56	8157	c.8063G>T	c.(8062-8064)AGC>ATC	p.S2688I	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.S141I|LAMA1_uc010wzj.1_Missense_Mutation_p.S2164I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2688					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGAGCTTGCTGTCCTCTGC	0.552		NA											23	170					1.23e-08	1.5e-08	1	0
LAMA1	284217	broad.mit.edu	37	18	7038870	7038870	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:7038870G>C	uc002knm.2	-	11	1596	c.1502C>G	c.(1501-1503)TCC>TGC	p.S501C	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	501	Laminin EGF-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCACTCGGAGCAGCCCCG	0.537		NA											105	365					0	0	0	0
CDH20	28316	broad.mit.edu	37	18	59221456	59221456	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:59221456A>C	uc010dps.1	+	11	1946	c.1934A>C	c.(1933-1935)CAC>CCC	p.H645P	CDH20_uc002lif.2_Missense_Mutation_p.H639P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	645	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				ATGAGGCGGCACCGGAAACAA	0.557		NA											52	53					0	0	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569789	61569789	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:61569789C>A	uc010xeu.1	+	8	1163	c.830C>A	c.(829-831)ACT>AAT	p.T277N	SERPINB2_uc002ljo.2_Missense_Mutation_p.T277N|SERPINB2_uc010dqh.2_Missense_Mutation_p.T207N|SERPINB2_uc002ljp.1_Missense_Mutation_p.T82N|SERPINB2_uc002ljq.1_Missense_Mutation_p.T82N	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	277					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418		NA											83	96					7.49e-41	1.13e-40	1	0
CDH19	28513	broad.mit.edu	37	18	64197182	64197182	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:64197182G>C	uc002lkc.1	-	9	1496	c.1358C>G	c.(1357-1359)TCG>TGG	p.S453W	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S453W	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	453	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				CAGTGGGATCGAAGAGATCTG	0.303		NA											66	53					0	0	0	0
DSEL	92126	broad.mit.edu	37	18	65181244	65181244	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:65181244C>G	uc002lke.1	-	2	1856	c.632G>C	c.(631-633)TGG>TCG	p.W211S		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	201						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGTAATAACCCATATTTTTTC	0.383		NA											41	38					0	0	0	0
APC2	10297	broad.mit.edu	37	19	1455209	1455209	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:1455209C>G	uc002lsr.1	+	5	683	c.475C>G	c.(475-477)CTG>GTG	p.L159V	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.L159V|APC2_uc002lsu.1_Missense_Mutation_p.L159V	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	159					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTCTCAGCTGCAGGGCCT	0.682		NA											8	14					0	0	0	0
TICAM1	148022	broad.mit.edu	37	19	4818041	4818041	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:4818041C>T	uc002mbi.2	-	2	600	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	117					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGTAGGCCACGTCCCGC	0.677		NA											17	80					0	0	0	0
TMEM146	257062	broad.mit.edu	37	19	5768221	5768221	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:5768221C>G	uc002mda.2	+	18	1663	c.1602C>G	c.(1600-1602)ACC>ACG	p.T534T	TMEM146_uc010duj.1_Silent_p.T192T	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	534	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACCCCTTGACCCTGCAAGACA	0.522		NA											17	129					0	0	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389458	6389458	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6389458C>A	uc002meq.2	-	4	608	c.323G>T	c.(322-324)AGG>ATG	p.R108M	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.R80M	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						CACTTACTTCCTGCCTGATTT	0.612		NA											85	119					4.87e-31	7.17e-31	1	0
SLC25A41	284427	broad.mit.edu	37	19	6430127	6430127	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6430127G>C	uc010dus.2	-	3	495	c.409C>G	c.(409-411)CAG>GAG	p.Q137E	SLC25A41_uc010dut.2_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	137	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						ACCATGCTCTGTAGCCCCCCC	0.617		NA											15	16					0	0	0	0
C3	718	broad.mit.edu	37	19	6686812	6686812	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6686812G>A	uc002mfm.2	-	28	3653	c.3591C>T	c.(3589-3591)GCC>GCT	p.A1197A	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1197					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCCATCTGGGCCAGAGCAT	0.542		NA											132	196					0	0	0	0
C3	718	broad.mit.edu	37	19	6707204	6707204	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6707204G>C	uc002mfm.2	-	17	2190	c.2128C>G	c.(2128-2130)CGG>GGG	p.R710G		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	710	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAACGGGTCCGGCGCTGGCAC	0.657		NA											13	53					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:10610576G>T	uc002moq.1	-	2	290	c.134C>A	c.(133-135)TCC>TAC	p.S45Y	KEAP1_uc002mor.1_Missense_Mutation_p.S45Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.S45S(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637		NA											39	168					7.05e-23	1e-22	1	0
SMARCA4	6597	broad.mit.edu	37	19	11144002	11144002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:11144002C>A	uc002mqf.3	+	26	3867	c.3583C>A	c.(3583-3585)CAG>AAG	p.Q1195K	SMARCA4_uc010dxp.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxo.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxq.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxr.2_Missense_Mutation_p.Q1195K|SMARCA4_uc002mqj.3_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxs.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxt.1_Missense_Mutation_p.Q415K|SMARCA4_uc002mqh.3_Missense_Mutation_p.Q318K|SMARCA4_uc002mqi.1_Missense_Mutation_p.Q398K	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1195	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCATCGGGCAGCAGAACGA	0.612		NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				27	107					6.33e-13	8.31e-13	1	0
LPHN1	22859	broad.mit.edu	37	19	14268735	14268735	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14268735G>A	uc010xnn.1	-	14	2805	c.2509C>T	c.(2509-2511)CAC>TAC	p.H837Y	LPHN1_uc010xno.1_Missense_Mutation_p.H832Y|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	837	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TTGGTGAGGTGGCTGCAGGCA	0.607		NA											29	72					0	0	0	0
OR7A5	26659	broad.mit.edu	37	19	14938984	14938984	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14938984G>T	uc002mzw.2	-	1	293	c.70C>A	c.(70-72)CAA>AAA	p.Q24K	OR7A5_uc010xoa.1_Missense_Mutation_p.Q24K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						AGGAAGGGTTGCAGTCCAGGT	0.473		NA											43	69					7.63e-17	1.05e-16	1	0
NOTCH3	4854	broad.mit.edu	37	19	15299972	15299972	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15299972G>A	uc002nan.2	-	8	1282	c.1206C>T	c.(1204-1206)TGC>TGT	p.C402C	NOTCH3_uc002nao.1_Silent_p.C402C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	402	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAAGTGCTCGCAGGGGTTGG	0.652		NA											19	65					0	0	0	0
OR10H1	26539	broad.mit.edu	37	19	15918353	15918353	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15918353G>A	uc002nbq.2	-	1	584	c.495C>T	c.(493-495)CAC>CAT	p.H165H		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGAAGGCGAGGTGGAAAATGG	0.607		NA											50	73					0	0	0	0
CYP4F2	8529	broad.mit.edu	37	19	16001226	16001226	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:16001226C>T	uc002nbs.1	-	6	593	c.543G>A	c.(541-543)CTG>CTA	p.L181L	CYP4F2_uc010xot.1_Silent_p.L32L|CYP4F2_uc010xou.1_Silent_p.L32L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	181					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CCTCTGAGGCCAGGAGCTGCC	0.557		NA											30	32					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17040011	17040011	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:17040011T>C	uc002nfb.2	-	24	3058	c.3026A>G	c.(3025-3027)CAG>CGG	p.Q1009R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	962						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CTGCACATACTGGAACTCATA	0.587		NA											18	60					0	0	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368706	18368706	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:18368706G>A	uc002nin.2	-	4	3043	c.2827C>T	c.(2827-2829)CGT>TGT	p.R943C	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1130C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R897C|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	943	IQ 2.					mitochondrion				ovary(2)	2						ATCCTGCGACGCGCCAGGTAG	0.672		NA											50	71					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22940817	22940817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:22940817G>A	uc010xrh.1	-	5	1621	c.1621C>T	c.(1621-1623)CAG>TAG	p.Q541*		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGACTGGCTAAAAGCT	0.388		NA											38	69					0	0	0	0
ANKRD27	84079	broad.mit.edu	37	19	33117730	33117730	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:33117730T>G	uc002ntn.1	-	16	1580	c.1424A>C	c.(1423-1425)CAG>CCG	p.Q475P		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	475	ANK 2.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GAGGGATGCCTGCCCTGCAGA	0.567		NA											9	14					0	0	0	0
NPHS1	4868	broad.mit.edu	37	19	36321757	36321757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:36321757C>T	uc002oby.2	-	28	3583	c.3583G>A	c.(3583-3585)GAA>AAA	p.E1195K		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1195	Binds to NPHS2.|Cytoplasmic (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGCACTTCATCGTAGAGG	0.468		NA											51	187					0	0	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915308	39915308	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:39915308C>T	uc010xuz.1	+	19	3860	c.3535C>T	c.(3535-3537)CCT>TCT	p.P1179S	PLEKHG2_uc010xuy.1_Missense_Mutation_p.P1120S|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P957S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1179	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCGGCTGCACCTCCACTTCC	0.572		NA											41	233					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40362807	40362807	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:40362807G>T	uc002omp.3	-	32	15271	c.15263C>A	c.(15262-15264)GCC>GAC	p.A5088D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5088						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACAGGAAGGCTTTGTCACC	0.652		NA											79	117					2.67e-37	4e-37	1	0
SPTBN4	57731	broad.mit.edu	37	19	41009736	41009736	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:41009736G>T	uc002ony.2	+	12	1449	c.1363_splice	c.e12-1	p.D455_splice	SPTBN4_uc002onx.2_Splice_Site_p.D455_splice|SPTBN4_uc002onz.2_Splice_Site_p.D455_splice	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTGCCCCAGGACAACTTTG	0.602		NA											8	18					0.00307968	0.00326572	1	0
PSG8	440533	broad.mit.edu	37	19	43268276	43268276	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:43268276G>T	uc002ouo.2	-	2	320	c.222C>A	c.(220-222)GAC>GAA	p.D74E	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.D74E|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.D74E|PSG8_uc002oum.3_Missense_Mutation_p.D74E|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.D74E	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	74	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				AATGGTAGAGGTCCCTGATTT	0.423		NA											184	574					8.44e-94	1.3e-93	1	0
SIX5	147912	broad.mit.edu	37	19	46268861	46268861	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:46268861C>A	uc002pdb.2	-	3	2513	c.2118G>T	c.(2116-2118)CTG>CTT	p.L706L	SIX5_uc002pdc.2_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	706						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGTGGCCCCCAGGAGCAGCC	0.672		NA											67	109					9.08e-34	1.35e-33	1	0
FPR2	2358	broad.mit.edu	37	19	52272482	52272482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:52272482C>A	uc002pxr.2	+	2	616	c.571C>A	c.(571-573)CTG>ATG	p.L191M	FPR2_uc002pxs.3_Missense_Mutation_p.L191M|FPR2_uc010epf.2_Missense_Mutation_p.L191M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	191	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						TGAGGAGAGGCTGAAGGTGGC	0.488		NA											20	137					1.16e-05	1.33e-05	1	0
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:56466176C>T	uc002qmh.2	+	3	823	c.752C>T	c.(751-753)ACG>ATG	p.T251M	NLRP8_uc010etg.2_Missense_Mutation_p.T251M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512		NA											49	210					0	0	0	0
ZNF835	90485	broad.mit.edu	37	19	57176029	57176029	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57176029A>T	uc010ygo.1	-	2	604	c.604T>A	c.(604-606)TAC>AAC	p.Y202N	ZNF835_uc010ygn.1_Missense_Mutation_p.Y180N	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GACGCCAGGTACGAGCCCTGG	0.706		NA											7	6					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57327145G>T	uc002qnu.2	-	7	3016	c.2665C>A	c.(2665-2667)CGC>AGC	p.R889S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R860S|PEG3_uc002qnv.2_Missense_Mutation_p.R889S|PEG3_uc002qnw.2_Missense_Mutation_p.R765S|PEG3_uc002qnx.2_Missense_Mutation_p.R763S|PEG3_uc010etr.2_Missense_Mutation_p.R889S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	889					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGTTGCGATTCTTACTG	0.443		NA											26	128					3.8e-18	5.27e-18	1	0
USP29	57663	broad.mit.edu	37	19	57642105	57642105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57642105C>A	uc002qny.2	+	4	2418	c.2062C>A	c.(2062-2064)CAT>AAT	p.H688N		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	688					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCAACATCCAGAACT	0.433		NA											15	58					7.93e-07	9.35e-07	1	0
ZNF460	10794	broad.mit.edu	37	19	57803285	57803285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57803285G>T	uc002qog.2	+	3	1698	c.1376G>T	c.(1375-1377)CGG>CTG	p.R459L	ZNF460_uc010ygv.1_Missense_Mutation_p.R418L	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	459	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCTTTTGTCGGACCACAAAC	0.527		NA											21	98					3.88e-16	5.25e-16	1	0
PXDN	7837	broad.mit.edu	37	2	1677464	1677464	+	Silent	SNP	G	G	A	rs61746899	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1677464G>A	uc002qxa.2	-	9	1033	c.969C>T	c.(967-969)GCC>GCT	p.A323A	PXDN_uc002qxb.1_Silent_p.A323A|PXDN_uc002qxc.1_Silent_p.A140A	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACCTCTCCGGCCACGTTCT	0.562		NA											59	263					0	0	0	0
MYT1L	23040	broad.mit.edu	37	2	1906998	1906998	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1906998G>C	uc002qxe.2	-	14	2713	c.1886C>G	c.(1885-1887)ACG>AGG	p.T629R	MYT1L_uc002qxd.2_Missense_Mutation_p.T627R|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	629					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGAACGCGGCGTAGTTGTGGG	0.463		NA											15	43					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11741112	11741112	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11741112C>T	uc002rbk.1	+	16	2820	c.2520C>T	c.(2518-2520)TCC>TCT	p.S840S	GREB1_uc002rbo.1_Silent_p.S474S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	840						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCTGCCTCCTGCAGTAATG	0.532		NA											20	86					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11758774	11758774	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11758774T>C	uc002rbk.1	+	22	4073	c.3773T>C	c.(3772-3774)ATT>ACT	p.I1258T	GREB1_uc002rbp.1_Missense_Mutation_p.I256T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1258						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGCCACCCATTGTCTTCTTG	0.667		NA											18	26					0	0	0	0
TRIB2	28951	broad.mit.edu	37	2	12880596	12880596	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:12880596C>T	uc002rbv.3	+	3	2144	c.708C>T	c.(706-708)GAC>GAT	p.D236D	TRIB2_uc010yjp.1_Silent_p.D100D	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	236	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGCAGCCGACGTGTGGAGCC	0.592		NA											11	85					0	0	0	0
C2orf44	80304	broad.mit.edu	37	2	24255744	24255744	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:24255744T>C	uc002rep.2	-	3	2022	c.1891A>G	c.(1891-1893)ACA>GCA	p.T631A	C2orf44_uc010eya.2_Intron	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	631							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAACTGTACTGAGCCTT	0.408		NA											39	177					0	0	0	0
LTBP1	4052	broad.mit.edu	37	2	33411996	33411996	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33411996C>A	uc002ros.2	+	6	1275	c.1275C>A	c.(1273-1275)TTC>TTA	p.F425L	LTBP1_uc002rot.2_Missense_Mutation_p.F99L|LTBP1_uc002rou.2_Missense_Mutation_p.F99L|LTBP1_uc002rov.2_Missense_Mutation_p.F99L|LTBP1_uc010ymz.1_Missense_Mutation_p.F99L|LTBP1_uc010yna.1_Missense_Mutation_p.F99L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	425	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCAAATTTCACAGGAAAAC	0.483		NA											39	68					8.74e-17	1.19e-16	1	0
LTBP1	4052	broad.mit.edu	37	2	33525538	33525538	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33525538G>T	uc002ros.2	+	21	3259	c.3259G>T	c.(3259-3261)GGG>TGG	p.G1087W	LTBP1_uc002rot.2_Missense_Mutation_p.G761W|LTBP1_uc002rou.2_Missense_Mutation_p.G760W|LTBP1_uc002rov.2_Missense_Mutation_p.G707W|LTBP1_uc010ymz.1_Missense_Mutation_p.G760W|LTBP1_uc010yna.1_Missense_Mutation_p.G707W|LTBP1_uc010ynb.1_Missense_Mutation_p.G26W	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1086	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTCAGCAAGGGAATCTATG	0.488		NA											15	90					4.75e-09	5.91e-09	1	0
VRK2	7444	broad.mit.edu	37	2	58276056	58276056	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:58276056A>T	uc002rzo.2	+	5	835	c.90A>T	c.(88-90)GTA>GTT	p.V30V	VRK2_uc010fcb.2_Silent_p.V30V|VRK2_uc002rzs.2_Silent_p.V30V|VRK2_uc002rzr.2_Silent_p.V30V|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Silent_p.V30V|VRK2_uc010fcd.2_Silent_p.V7V|VRK2_uc002rzp.2_Silent_p.V30V|VRK2_uc010ypg.1_Silent_p.V30V|VRK2_uc002rzq.2_Silent_p.V30V|VRK2_uc002rzu.2_Silent_p.V30V|VRK2_uc002rzt.2_5'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	30	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						ATCAGTGGGTACTGGGCAAGA	0.368		NA											20	91					0	0	0	0
DYSF	8291	broad.mit.edu	37	2	71742778	71742778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:71742778G>A	uc002sie.2	+	7	1065	c.689G>A	c.(688-690)CGC>CAC	p.R230H	DYSF_uc010feg.2_Missense_Mutation_p.R261H|DYSF_uc010feh.2_Missense_Mutation_p.R230H|DYSF_uc002sig.3_Missense_Mutation_p.R230H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R230H|DYSF_uc010fef.2_Missense_Mutation_p.R261H|DYSF_uc010fei.2_Missense_Mutation_p.R261H|DYSF_uc010fek.2_Missense_Mutation_p.R262H|DYSF_uc010fej.2_Missense_Mutation_p.R231H|DYSF_uc010fel.2_Missense_Mutation_p.R231H|DYSF_uc010feo.2_Missense_Mutation_p.R262H|DYSF_uc010fem.2_Missense_Mutation_p.R231H|DYSF_uc010fen.2_Missense_Mutation_p.R262H|DYSF_uc002sif.2_Missense_Mutation_p.R231H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	230	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						ATCGAGGGGCGCCAGCTGCCG	0.592		NA											56	160					0	0	0	0
C2orf65	130951	broad.mit.edu	37	2	74789507	74789507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:74789507G>C	uc002smy.2	-	8	1235	c.1118C>G	c.(1117-1119)CCA>CGA	p.P373R	C2orf65_uc010ysa.1_Missense_Mutation_p.P373R|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.P129R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	373					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						GCTGTGTCCTGGGCCCGGTGG	0.527		NA											32	88					0	0	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975838	76975838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:76975838C>G	uc002snr.2	-	4	2171	c.1756G>C	c.(1756-1758)GAG>CAG	p.E586Q	LRRTM4_uc002snq.2_Missense_Mutation_p.E586Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	586	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GCAATTCTCTCTAGGTAGATG	0.597		NA											45	124					0	0	0	0
REG1A	5967	broad.mit.edu	37	2	79349177	79349177	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:79349177T>A	uc002snz.2	+	4	350	c.247T>A	c.(247-249)TTT>ATT	p.F83I	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.F83I	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	83	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						CGAGGGTGCCTTTGTGGCCTC	0.522		NA											29	111					0	0	0	0
AFF3	3899	broad.mit.edu	37	2	100625372	100625372	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:100625372C>T	uc002tag.2	-	4	312	c.76G>A	c.(76-78)GCA>ACA	p.A26T	AFF3_uc002taf.2_Missense_Mutation_p.A51T|AFF3_uc010fiq.1_Missense_Mutation_p.A26T|AFF3_uc010yvr.1_Missense_Mutation_p.A180T|AFF3_uc002tah.1_Missense_Mutation_p.A51T|AFF3_uc010fir.1_Missense_Mutation_p.A103T|AFF3_uc002tai.2_5'Flank	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	26					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CTCCGTAATGCATTTCTATCT	0.398		NA											8	29					0	0	0	0
DPP10	57628	broad.mit.edu	37	2	115200370	115200370	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:115200370C>A	uc002tla.1	+	1	472	c.15C>A	c.(13-15)GCC>GCA	p.A5A		NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	5	Mediates effects on KCND2.|Cytoplasmic (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ACCAAACTGCCAGCGTGTCCC	0.468		NA											15	47					3.33e-07	3.98e-07	1	0
LIMS2	55679	broad.mit.edu	37	2	128414981	128414981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:128414981T>G	uc002tpa.2	-	2	333	c.167A>C	c.(166-168)TAT>TCT	p.Y56S	LIMS2_uc002tox.2_Missense_Mutation_p.Y80S|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.Y51S|LIMS2_uc010yzm.1_Missense_Mutation_p.Y78S|LIMS2_uc002toz.2_Missense_Mutation_p.Y51S|LIMS2_uc002tpb.2_Missense_Mutation_p.Y51S	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	56	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCTCACCTCATAGAAGAGCCC	0.627		NA											55	105					0	0	0	0
CXCR4	7852	broad.mit.edu	37	2	136872794	136872794	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:136872794C>G	uc002tuz.2	-	2	799	c.704G>C	c.(703-705)CGC>CCC	p.R235P	CXCR4_uc002tuy.2_Missense_Mutation_p.R239P|CXCR4_uc010fnk.2_Missense_Mutation_p.R220P	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	235	Cytoplasmic.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGGCCTTGCGCTTCTGGTG	0.522		NA											100	173					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	138376011	138376011	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:138376011C>T	uc002tva.1	+	18	3528	c.3528C>T	c.(3526-3528)GTC>GTT	p.V1176V	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCAAGGCGTCAGGACCCGCC	0.507		NA											6	42					0	0	0	0
NR4A2	4929	broad.mit.edu	37	2	157182511	157182511	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:157182511C>A	uc002tyz.3	-	8	1964	c.1542G>T	c.(1540-1542)GAG>GAT	p.E514D	NR4A2_uc002tyx.3_Missense_Mutation_p.E451D|NR4A2_uc010zcf.1_Missense_Mutation_p.E514D	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	514					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GCCCGTGTCTCTCTGCAGAAA	0.423		NA											9	62					0.000274275	0.000299902	1	0
LRP2	4036	broad.mit.edu	37	2	170063612	170063612	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:170063612C>A	uc002ues.2	-	39	6831	c.6618G>T	c.(6616-6618)TGG>TGT	p.W2206C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2206	LDL-receptor class B 22.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATAGTCAGCCCAGAAGAGGT	0.483		NA											114	249					5.16e-52	7.85e-52	1	0
ITGA6	3655	broad.mit.edu	37	2	173333907	173333907	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:173333907C>G	uc002uhp.1	+	4	645	c.442C>G	c.(442-444)CGA>GGA	p.R148G	ITGA6_uc010fqk.1_Missense_Mutation_p.R34G|ITGA6_uc010zdy.1_Missense_Mutation_p.R34G|ITGA6_uc002uho.1_Missense_Mutation_p.R148G|ITGA6_uc010fql.2_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	148	Extracellular (Potential).|FG-GAP 2.				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAGGAATCCCGAGACATCTT	0.458		NA											56	374					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179529453	179529453	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179529453G>T	uc010zfk.1	-	12	1116	c.568C>A	c.(568-570)CTC>ATC	p.L190I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTGGAGAGCTTCAGGC	0.383		NA											41	26					3.55e-21	5e-21	1	0
TTN	7273	broad.mit.edu	37	2	179593122	179593122	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179593122G>T	uc010zfg.1	-	64	15921	c.15697C>A	c.(15697-15699)CAA>AAA	p.Q5233K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1894K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6160							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5233K(1)		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)			GGAATATTTTGATCTGTCCAA	0.373		NA											13	14					9.05e-12	1.17e-11	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803442	185803442	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803442G>T	uc002uph.2	+	4	3913	c.3319G>T	c.(3319-3321)GCT>TCT	p.A1107S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						gcagcagcacgctgcagctgc	0.373		NA											22	22					1.27e-14	1.69e-14	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803545	185803545	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803545C>A	uc002uph.2	+	4	4016	c.3422C>A	c.(3421-3423)ACC>AAC	p.T1141N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1141						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CTCACCAGAACCTCATTACCT	0.408		NA											79	75					9.43e-34	1.4e-33	1	0
ERBB4	2066	broad.mit.edu	37	2	212488770	212488770	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:212488770C>A	uc002veg.1	-	18	2178	c.2080_splice	c.e18-1	p.L694_splice	ERBB4_uc002veh.1_Splice_Site_p.L694_splice|ERBB4_uc010zji.1_Splice_Site_p.L684_splice|ERBB4_uc010zjj.1_Splice_Site_p.L684_splice|ERBB4_uc010fut.1_Splice_Site_p.L694_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTCCACCAACTGCAAAGCGG	0.368		NA								TSP Lung(8;0.080)			47	39					1.83e-24	2.64e-24	1	0
ABCB6	10058	broad.mit.edu	37	2	220083227	220083227	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:220083227C>A	uc002vkc.1	-	1	446	c.169G>T	c.(169-171)GCT>TCT	p.A57S	ABCB6_uc010fwe.1_Missense_Mutation_p.A57S|ABCB6_uc010zku.1_RNA|ATG9A_uc002vkd.1_RNA	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	57					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCACCAGCGGGCCGCTCC	0.687		NA											8	11					3.1e-07	3.71e-07	1	0
NRSN2	80023	broad.mit.edu	37	20	330327	330327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:330327G>T	uc002wdi.3	+	3	578	c.40G>T	c.(40-42)GGC>TGC	p.G14C	NRSN2_uc002wdj.2_Intron|NRSN2_uc002wdl.2_Missense_Mutation_p.G13C	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	14						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)				CTGCAGCCGCGGCCCCAGCGT	0.632		NA											27	48					3.93e-24	5.66e-24	1	0
SIRPB1	10326	broad.mit.edu	37	20	1552462	1552462	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1552462C>T	uc010gai.2	-	3	754	c.655G>A	c.(655-657)GGG>AGG	p.G219R	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	219	Ig-like C1-type 1.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						TGAACGTCCCCACGGGTCAGC	0.582		NA											63	131					0	0	0	0
PDYN	5173	broad.mit.edu	37	20	1961152	1961152	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1961152G>A	uc010gaj.2	-	3	824	c.582C>T	c.(580-582)GAC>GAT	p.D194D	uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.D194D|PDYN_uc010zpt.1_Silent_p.D39D	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	194					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGCTATCCCCGTCCCCCTCCC	0.592		NA											93	158					0	0	0	0
PAK7	57144	broad.mit.edu	37	20	9561465	9561465	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:9561465G>A	uc002wnl.2	-	5	862	c.317C>T	c.(316-318)CCC>CTC	p.P106L	PAK7_uc002wnk.2_Missense_Mutation_p.P106L|PAK7_uc002wnj.2_Missense_Mutation_p.P106L|PAK7_uc010gby.1_Missense_Mutation_p.P106L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	106	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			ATCTGGGGTGGGTGGGCTTTC	0.542		NA											127	185					0	0	0	0
MAFB	9935	broad.mit.edu	37	20	39317053	39317053	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:39317053C>A	uc002xji.2	-	1	824	c.438G>T	c.(436-438)CCG>CCT	p.P146P		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	146					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGCCGGCGCCCGGGTACGCgt	0.587		NA	T	IGH@	MM								13	14					2.63e-14	3.48e-14	1	0
ZNF831	128611	broad.mit.edu	37	20	57767409	57767409	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:57767409C>A	uc002yan.2	+	1	1335	c.1335C>A	c.(1333-1335)CCC>CCA	p.P445P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	445						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGCCCACGCCCTACACCTACA	0.682		NA											15	71					7.93e-07	9.35e-07	1	0
LAMA5	3911	broad.mit.edu	37	20	60905980	60905980	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:60905980C>G	uc002ycq.2	-	30	3738	c.3671G>C	c.(3670-3672)CGC>CCC	p.R1224P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1224	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTGGGAAGCGCGAGGGCAG	0.721		NA											2	5					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	10944708	10944708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:10944708A>G	uc002yip.1	-	11	894	c.526T>C	c.(526-528)TAC>CAC	p.Y176H	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y158H|TPTE_uc002yir.1_Missense_Mutation_p.Y138H|TPTE_uc010gkv.1_Missense_Mutation_p.Y38H	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	176	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAAATGTAAACGACATCA	0.294		NA											27	308					0	0	0	0
HSPA13	6782	broad.mit.edu	37	21	15748099	15748099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15748099C>A	uc002yjt.2	-	4	691	c.622G>T	c.(622-624)GCT>TCT	p.A208S	HSPA13_uc011abx.1_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	208						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1						TAGGCCATAGCTGCTGCTGTG	0.443		NA											50	94					1.63e-21	2.3e-21	1	0
SAMSN1	64092	broad.mit.edu	37	21	15870888	15870888	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15870888T>C	uc002yju.1	-	7	876	c.794A>G	c.(793-795)AAT>AGT	p.N265S	SAMSN1_uc010gky.1_Missense_Mutation_p.N97S|SAMSN1_uc002yjv.1_Missense_Mutation_p.N333S	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	265	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTCATAACCATTGAGCAAAAG	0.284		NA											35	101					0	0	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338240	28338240	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:28338240C>A	uc002ymg.2	-	1	1200	c.471G>T	c.(469-471)GCG>GCT	p.A157A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	157					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CGTGCTTGACCGCGAAGAAGC	0.662		NA											9	44					0.00448238	0.00474928	1	0
RWDD2B	10069	broad.mit.edu	37	21	30391545	30391545	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:30391545C>T	uc002yms.2	-	1	141	c.54G>A	c.(52-54)GGG>GGA	p.G18G	RWDD2B_uc002ymt.2_5'UTR|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	18											0						GAGCCGTGGCCCCCTCACTGC	0.582		NA											4	9					0	0	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127484	32127484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:32127484G>T	uc011adi.1	-	1	213	c.213C>A	c.(211-213)TGC>TGA	p.C71*		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	71						intermediate filament				breast(1)	1						ATCTTCTAAAGCAAAATGGCC	0.299		NA											37	205					2.49e-23	3.56e-23	1	0
GAB4	128954	broad.mit.edu	37	22	17451084	17451084	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:17451084C>G	uc002zlw.2	-	4	795	c.687_splice	c.e4-1	p.R229_splice	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGCACTCCTAAGAGAGAG	0.532		NA											24	82					0	0	0	0
DGCR14	8220	broad.mit.edu	37	22	19127505	19127505	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:19127505G>A	uc002zou.2	-	4	470	c.433C>T	c.(433-435)CTG>TTG	p.L145L	DGCR14_uc002zot.2_Silent_p.L66L|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	145					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					AGGCTGGGCAGCGGCTCCTTC	0.612		NA											85	131					0	0	0	0
FBXO7	25793	broad.mit.edu	37	22	32889195	32889195	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:32889195G>C	uc003amq.2	+	7	1354	c.1071G>C	c.(1069-1071)GCG>GCC	p.A357A	FBXO7_uc003amr.2_Silent_p.A243A|FBXO7_uc003ams.2_Silent_p.A201A|FBXO7_uc003amt.2_Silent_p.A278A|FBXO7_uc003amu.2_Silent_p.A243A|FBXO7_uc003amv.2_Silent_p.A56A	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	357	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CTTTGTCTGCGGTTTGTCGTG	0.448		NA											89	187					0	0	0	0
NCF4	4689	broad.mit.edu	37	22	37266473	37266473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:37266473C>G	uc003apy.3	+	5	543	c.359C>G	c.(358-360)CCG>CGG	p.P120R	NCF4_uc003apz.3_Missense_Mutation_p.P120R	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	120	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						CTCAGCCTGCCGGTCTGGGTG	0.642		NA											30	89					0	0	0	0
SMC1B	27127	broad.mit.edu	37	22	45779421	45779421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:45779421T>C	uc003bgc.2	-	12	2036	c.1984A>G	c.(1984-1986)AAG>GAG	p.K662E	SMC1B_uc003bgd.2_Missense_Mutation_p.K662E|SMC1B_uc003bge.1_Missense_Mutation_p.K445E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	662	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCTAGCCTTGTATTTTAAG	0.363		NA											67	108					0	0	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552123	50552123	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:50552123T>G	uc003bjj.2	+	6	873	c.790T>G	c.(790-792)TTG>GTG	p.L264V	MOV10L1_uc003bjk.3_Missense_Mutation_p.L264V|MOV10L1_uc011arp.1_Missense_Mutation_p.L244V|MOV10L1_uc011arq.1_Missense_Mutation_p.L25V|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	264					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGAACGATTTTGCTGAAGAA	0.473		NA											47	115					0	0	0	0
CNTN6	27255	broad.mit.edu	37	3	1337387	1337387	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:1337387T>A	uc003boz.2	+	6	824	c.557T>A	c.(556-558)GTG>GAG	p.V186E	CNTN6_uc010hbo.2_Missense_Mutation_p.V181E|CNTN6_uc011asj.1_Missense_Mutation_p.V114E|CNTN6_uc003bpa.2_Missense_Mutation_p.V186E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	186	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGCCAAAGTGGAACCATCA	0.443		NA											21	70					0	0	0	0
TRIM71	131405	broad.mit.edu	37	3	32933213	32933213	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:32933213G>A	uc003cff.2	+	4	2580	c.2517G>A	c.(2515-2517)GGG>GGA	p.G839G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	839	NHL 6.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCGGCTTTGGGCAGATGGACC	0.547		NA											46	220					0	0	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800531	45800531	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:45800531G>T	uc011bai.1	-	11	1842	c.1718C>A	c.(1717-1719)GCG>GAG	p.A573E	SLC6A20_uc003cow.2_Missense_Mutation_p.A223E|SLC6A20_uc011baj.1_Missense_Mutation_p.A536E	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	573	Helical; Name=12; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCAGGGCCGCCAGGGGGAT	0.612		NA											42	39					2.55e-27	3.71e-27	1	0
PTH1R	5745	broad.mit.edu	37	3	46944837	46944837	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:46944837C>A	uc003cqm.2	+	16	1676	c.1473C>A	c.(1471-1473)AGC>AGA	p.S491R	PTH1R_uc003cqn.2_Missense_Mutation_p.S491R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	491	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GCAGCGGGAGCAGCAGCTATA	0.622		NA							Ollier_disease_/_Maffuci_syndrome				24	23					7.44e-23	1.06e-22	1	0
CELSR3	1951	broad.mit.edu	37	3	48696506	48696506	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:48696506G>T	uc003cul.2	-	1	3843	c.3562C>A	c.(3562-3564)CCG>ACG	p.P1188T	CELSR3_uc003cuf.1_Missense_Mutation_p.P1258T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1188	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGCCCGACGGGAAGGTGTCT	0.537		NA											61	52					2.91e-39	4.4e-39	1	0
WDR6	11180	broad.mit.edu	37	3	49050668	49050668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:49050668C>G	uc003cvj.2	+	2	1929	c.1791C>G	c.(1789-1791)CAC>CAG	p.H597Q	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.H541Q|WDR6_uc011bbz.1_Missense_Mutation_p.H516Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	567	WD 9.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCTCTGCACGGGAAGCAGG	0.597		NA											4	55					0	0	0	0
NISCH	11188	broad.mit.edu	37	3	52526337	52526337	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:52526337G>A	uc011beg.1	+	22	4426	c.4354G>A	c.(4354-4356)GGG>AGG	p.G1452R	NISCH_uc003ded.3_Missense_Mutation_p.G1452R|NISCH_uc003dee.3_Missense_Mutation_p.G941R|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.G201R	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1452					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACCACTTTGGGGAGGTGCC	0.617		NA											166	160					0	0	0	0
CNTN3	5067	broad.mit.edu	37	3	74334568	74334568	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:74334568G>C	uc003dpm.1	-	19	2672	c.2592C>G	c.(2590-2592)GCC>GCG	p.A864A		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	864	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGTAGTCTGGCTGATGTCT	0.547		NA											44	163					0	0	0	0
ROBO2	6092	broad.mit.edu	37	3	77629206	77629206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:77629206G>A	uc003dpy.3	+	16	3080	c.2437G>A	c.(2437-2439)GAG>AAG	p.E813K	ROBO2_uc003dpz.2_Missense_Mutation_p.E817K|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E817K	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	813	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATACCGGGTAGAGGTTGCAGC	0.438		NA											47	58					0	0	0	0
CADM2	253559	broad.mit.edu	37	3	86114784	86114784	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:86114784C>G	uc003dqj.2	+	9	1719	c.1093C>G	c.(1093-1095)CCT>GCT	p.P365A	CADM2_uc003dqk.2_Missense_Mutation_p.P334A|CADM2_uc003dql.2_Missense_Mutation_p.P367A	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	365	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCAGAATGGCCCTGACCATGC	0.403		NA											37	37					0	0	0	0
PROS1	5627	broad.mit.edu	37	3	93615516	93615516	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:93615516G>A	uc003drb.3	-	9	1210	c.869C>T	c.(868-870)CCC>CTC	p.P290L	PROS1_uc010hoo.2_Missense_Mutation_p.P159L|PROS1_uc003dqz.3_Missense_Mutation_p.P159L	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	290					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAGGTTCAAGGGAAGGCACAC	0.368		NA											60	176					0	0	0	0
COL8A1	1295	broad.mit.edu	37	3	99514875	99514875	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:99514875C>A	uc003dtg.1	+	5	2375	c.2130C>A	c.(2128-2130)CCC>CCA	p.P710P	COL8A1_uc003dth.1_Silent_p.P710P|COL8A1_uc003dti.1_Silent_p.P711P	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	710	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TGCTCAGGCCCGGAGACCGGG	0.542		NA											27	76					1.18e-12	1.54e-12	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101572505	101572505	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:101572505A>T	uc003dvp.2	+	5	1250	c.1135A>T	c.(1135-1137)AGC>TGC	p.S379C	NFKBIZ_uc003dvo.2_Missense_Mutation_p.S279C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S279C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S257C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	379	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						CATGATGCCCAGCAGCGCCTG	0.493		NA											64	139					0	0	0	0
SIDT1	54847	broad.mit.edu	37	3	113323815	113323815	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113323815T>A	uc003eak.2	+	14	2047	c.1396T>A	c.(1396-1398)TAT>AAT	p.Y466N	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.Y466N|SIDT1_uc011big.1_Missense_Mutation_p.Y219N|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	466	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GGTCATTACCTATCAGACAGT	0.498		NA											35	103					0	0	0	0
DRD3	1814	broad.mit.edu	37	3	113858352	113858352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113858352G>T	uc003ebd.2	-	6	1141	c.718C>A	c.(718-720)CAG>AAG	p.Q240K	DRD3_uc010hqn.1_Missense_Mutation_p.Q240K|DRD3_uc003ebb.1_Missense_Mutation_p.Q240K|DRD3_uc003ebc.1_Missense_Mutation_p.Q240K	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	240	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTACTTGCTGGGGGAAGCCA	0.512		NA											75	212					1.43e-34	2.13e-34	1	0
FSTL1	11167	broad.mit.edu	37	3	120121736	120121736	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:120121736C>T	uc003eds.2	-	9	899	c.724G>A	c.(724-726)GAT>AAT	p.D242N	FSTL1_uc011bjh.1_Missense_Mutation_p.D207N	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	242	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		TCAGCTCCATCTGCATACGTT	0.537		NA											52	130					0	0	0	0
POLQ	10721	broad.mit.edu	37	3	121195496	121195496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:121195496C>A	uc003eee.3	-	20	6425	c.6296G>T	c.(6295-6297)TGT>TTT	p.C2099F	POLQ_uc003eed.2_Missense_Mutation_p.C1271F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2099					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTGACTTTCACATTCTGCAGT	0.428		NA						DNA_polymerases_(catalytic_subunits)					32	81					1.75e-11	2.25e-11	1	0
SEC61A1	29927	broad.mit.edu	37	3	127783719	127783719	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:127783719G>A	uc003ekb.2	+	8	801	c.617_splice	c.e8-1	p.G206_splice	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Splice_Site_p.G153_splice|SEC61A1_uc003ekd.2_Splice_Site_p.G86_splice|SEC61A1_uc003ekg.2_5'Flank	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit						protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TCTGCCAACAGGAATGGAATT	0.468		NA											36	67					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130285860	130285860	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:130285860C>A	uc010htl.2	+	4	1628	c.1597C>A	c.(1597-1599)CGA>AGA	p.R533R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	533	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAAGAAGCAGCGAGGAAACAA	0.483		NA											38	112					6.53e-20	9.15e-20	1	0
MED12L	116931	broad.mit.edu	37	3	150911327	150911327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:150911327G>T	uc003eyp.2	+	14	2057	c.2019G>T	c.(2017-2019)TTG>TTT	p.L673F	MED12L_uc011bnz.1_Missense_Mutation_p.L533F|MED12L_uc003eyn.2_Missense_Mutation_p.L708F|MED12L_uc003eyo.2_Missense_Mutation_p.L673F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACTTCGTTGGGCAGAAGAA	0.388		NA											97	97					2.15e-58	3.29e-58	1	0
SI	6476	broad.mit.edu	37	3	164741477	164741477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:164741477C>T	uc003fei.2	-	26	3042	c.2980G>A	c.(2980-2982)GGT>AGT	p.G994S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	994	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)	GCTGTTATACCCATGGATGAA	0.403		NA								HNSCC(35;0.089)			46	142					0	0	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169546666	169546666	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:169546666G>T	uc003fgb.2	+	2	1140	c.1140G>T	c.(1138-1140)GGG>GGT	p.G380G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	380	LRR 16.										0						TATACATTGGGCAAGACCAGG	0.438		NA											36	167					9.46e-24	1.36e-23	1	0
TNIK	23043	broad.mit.edu	37	3	170912383	170912383	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:170912383C>G	uc003fhh.2	-	5	693	c.348G>C	c.(346-348)CTG>CTC	p.L116L	TNIK_uc003fhi.2_Silent_p.L116L|TNIK_uc003fhj.2_Silent_p.L116L|TNIK_uc003fhk.2_Silent_p.L116L|TNIK_uc003fhl.2_Silent_p.L116L|TNIK_uc003fhm.2_Silent_p.L116L|TNIK_uc003fhn.2_Silent_p.L116L|TNIK_uc003fho.2_Silent_p.L116L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	116	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTTCTTGATCAGGTCGGTGA	0.468		NA											173	197					0	0	0	0
PCGF3	10336	broad.mit.edu	37	4	737282	737282	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:737282G>C	uc011bva.1	+	8	758	c.283G>C	c.(283-285)GAG>CAG	p.E95Q	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.E95Q|PCGF3_uc010ibh.2_Missense_Mutation_p.E95Q|PCGF3_uc003gbg.1_Missense_Mutation_p.E61Q|PCGF3_uc003gbh.2_Missense_Mutation_p.E61Q	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						AAAGCAGAGGGAGTTCTATCA	0.468		NA											8	38					0	0	0	0
CPLX1	10815	broad.mit.edu	37	4	786337	786337	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:786337C>A	uc003gbi.2	-	3	282	c.91G>T	c.(91-93)GCC>TCC	p.A31S	CPLX1_uc003gbj.2_Missense_Mutation_p.A31S	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	31	Potential.				glutamate secretion	cytosol					0				Colorectal(103;0.187)		TCCTTCTTGGCGGCGTCTGGG	0.657		NA											31	113					4.32e-10	5.45e-10	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2306406	2306406	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2306406G>T	uc003gex.1	-	8	1980	c.1661C>A	c.(1660-1662)ACT>AAT	p.T554N	ZFYVE28_uc011bvk.1_Missense_Mutation_p.T484N|ZFYVE28_uc011bvl.1_Missense_Mutation_p.T524N|ZFYVE28_uc003gew.1_Missense_Mutation_p.T440N	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	554					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GGTGGCCCCAGTGCTAAGCTT	0.687		NA											7	51					7.48e-07	8.86e-07	1	0
NOP14	8602	broad.mit.edu	37	4	2940652	2940652	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2940652G>A	uc003ggj.1	-	18	2552	c.2480C>T	c.(2479-2481)GCG>GTG	p.A827V	C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Missense_Mutation_p.A827V	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	827					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CTTTCTTTCCGCATCCCTAAA	0.428		NA											4	134					0	0	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256888	25256888	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25256888G>A	uc003grk.2	+	3	757	c.624_splice	c.e3+1	p.K208_splice	PI4K2B_uc011bxs.1_Splice_Site_p.K112_splice	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta							cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				TAAAACAAAGGTAAGCCAGAC	0.403		NA											29	107					0	0	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780751	25780751	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25780751G>A	uc003gru.3	-	16	2684	c.2532C>T	c.(2530-2532)TAC>TAT	p.Y844Y	SEL1L3_uc003grv.2_Silent_p.Y251Y	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	844	Sel1-like 7.					integral to membrane	binding				0						CTGTGATATAGTAGAGAGAAC	0.443		NA											24	114					0	0	0	0
TMEM165	55858	broad.mit.edu	37	4	56283323	56283323	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283323G>C	uc003hax.2	+	3	785	c.518G>C	c.(517-519)AGA>ACA	p.R173T	TMEM165_uc011bzy.1_Missense_Mutation_p.R110T	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	173						integral to membrane					0	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTGGCATTAGAATGCTTCGG	0.398		NA											37	178					0	0	0	0
TMEM165	55858	broad.mit.edu	37	4	56283406	56283406	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283406G>C	uc003hax.2	+	3	868	c.601G>C	c.(601-603)GAT>CAT	p.D201H	TMEM165_uc011bzy.1_Missense_Mutation_p.D138H	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	201						integral to membrane					0	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAGAAGAAAGATGAAGAAGT	0.438		NA											26	118					0	0	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897871	72897871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:72897871G>A	uc003hgg.2	+	1	351	c.253G>A	c.(253-255)GCT>ACT	p.A85T	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	85	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCAGACGGGCTTGGTGGAT	0.672		NA											14	29					0	0	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012843	73012843	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:73012843A>G	uc003hgg.2	+	4	981	c.883A>G	c.(883-885)AGA>GGA	p.R295G	NPFFR2_uc010iig.1_Missense_Mutation_p.R77G|NPFFR2_uc003hgi.2_Missense_Mutation_p.R196G|NPFFR2_uc003hgh.2_Missense_Mutation_p.R193G|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	295	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTACCGAGTGAGACTCAACTC	0.438		NA											87	212					0	0	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380494	82380494	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:82380494A>T	uc003hmi.1	-	2	313	c.169T>A	c.(169-171)TAT>AAT	p.Y57N	RASGEF1B_uc003hmj.1_Missense_Mutation_p.Y57N|RASGEF1B_uc010ijq.1_Missense_Mutation_p.Y57N|RASGEF1B_uc003hmk.2_Missense_Mutation_p.Y57N	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	57	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						ACATCTGGATAGTAATCCACA	0.428		NA											89	173					0	0	0	0
AFF1	4299	broad.mit.edu	37	4	88036203	88036203	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:88036203G>A	uc003hqj.3	+	11	2604	c.2197G>A	c.(2197-2199)GAC>AAC	p.D733N	AFF1_uc011ccz.1_Missense_Mutation_p.D740N|AFF1_uc003hqk.3_Missense_Mutation_p.D733N|AFF1_uc011cda.1_Missense_Mutation_p.D371N	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	733						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGTCCAGGAGGACAGCCGCAA	0.607		NA											16	30					0	0	0	0
C4orf21	55345	broad.mit.edu	37	4	113540786	113540786	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:113540786C>A	uc003iau.2	-	6	623	c.412G>T	c.(412-414)GCT>TCT	p.A138S	C4orf21_uc003iaw.2_Missense_Mutation_p.A138S	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTGATGCAGCTGATTCACCA	0.388		NA											37	105					4.18e-13	5.5e-13	1	0
ANK2	287	broad.mit.edu	37	4	114238951	114238951	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:114238951A>G	uc003ibe.3	+	25	2882	c.2782A>G	c.(2782-2784)ATT>GTT	p.I928V	ANK2_uc003ibd.3_Missense_Mutation_p.I907V|ANK2_uc003ibf.3_Missense_Mutation_p.I928V|ANK2_uc011cgc.1_Missense_Mutation_p.I137V|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.I904V|ANK2_uc011cgb.1_Missense_Mutation_p.I943V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	928					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGTTGTGATTCCCAGTCA	0.473		NA											37	69					0	0	0	0
GYPA	2993	broad.mit.edu	37	4	145039886	145039886	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:145039886G>T	uc003ijo.3	-	4	368	c.252C>A	c.(250-252)GCC>GCA	p.A84A	GYPA_uc003ijn.2_Silent_p.A84A|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.A51A|GYPA_uc003ijp.3_Silent_p.A52A|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Silent_p.A19A|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	84	Extracellular.		A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity	p.A84T(1)		central_nervous_system(2)	2	all_hematologic(180;0.15)					AGAAATGATGGGCAAGTTGTA	0.313		NA											44	129					8.3e-39	1.25e-38	1	0
DCHS2	54798	broad.mit.edu	37	4	155256095	155256095	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:155256095T>A	uc003inw.2	-	8	1141	c.1141A>T	c.(1141-1143)AAG>TAG	p.K381*	DCHS2_uc003inx.2_Nonsense_Mutation_p.K880*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	381	Cadherin 3.|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGTGTACTTAGGCCTTTCA	0.448		NA											60	115					0	0	0	0
DDX60	55601	broad.mit.edu	37	4	169201720	169201720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169201720C>A	uc003irp.2	-	14	2036	c.1744G>T	c.(1744-1746)GCT>TCT	p.A582S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	582							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTCTCTAGCAATTATTTCA	0.348		NA											20	57					0.000229342	0.000253114	1	0
DDX60L	91351	broad.mit.edu	37	4	169348297	169348297	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169348297A>G	uc003irq.3	-	14	2075	c.1854T>C	c.(1852-1854)AAT>AAC	p.N618N	DDX60L_uc003irr.1_Silent_p.N618N|DDX60L_uc003irs.1_Silent_p.N345N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	618							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTTCACTGAATTACTTGCAC	0.353		NA											14	26					0	0	0	0
ADAM29	11086	broad.mit.edu	37	4	175896751	175896751	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:175896751C>T	uc003iuc.2	+	5	745	c.75C>T	c.(73-75)CCC>CCT	p.P25P	ADAM29_uc003iud.2_Silent_p.P25P|ADAM29_uc010irr.2_Silent_p.P25P|ADAM29_uc011cki.1_Silent_p.P25P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	25					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGAGCACCCCCAATATCACA	0.517		NA											51	114					0	0	0	0
ASB5	140458	broad.mit.edu	37	4	177142615	177142615	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:177142615T>C	uc003iuq.1	-	4	537	c.521A>G	c.(520-522)GAG>GGG	p.E174G	ASB5_uc003iup.1_Missense_Mutation_p.E121G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	174	ANK 4.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGGCGGCCTCATGCGTTGG	0.493		NA											42	219					0	0	0	0
NEIL3	55247	broad.mit.edu	37	4	178283595	178283595	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:178283595G>T	uc003iut.2	+	10	1905	c.1788G>T	c.(1786-1788)GGG>GGT	p.G596G		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	596					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGAAAATGGGCCAGGAATAA	0.363		NA						BER_DNA_glycosylases					51	123					1.04e-30	1.53e-30	1	0
LPCAT1	79888	broad.mit.edu	37	5	1474683	1474683	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:1474683C>A	uc003jcm.2	-	10	1134	c.1017G>T	c.(1015-1017)CGG>CGT	p.R339R		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612		NA											24	24					9.86e-18	1.36e-17	1	0
ADCY2	108	broad.mit.edu	37	5	7727344	7727344	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:7727344T>A	uc003jdz.1	+	14	1908	c.1841T>A	c.(1840-1842)ATC>AAC	p.I614N	ADCY2_uc011cmo.1_Missense_Mutation_p.I434N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	614	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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TTCTTCTGCATCTTCATTGTG	0.493		NA											67	80					0	0	0	0
CCT5	22948	broad.mit.edu	37	5	10262656	10262656	+	Missense_Mutation	SNP	G	G	A	rs11557654		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:10262656G>A	uc003jeq.2	+	9	1414	c.1243G>A	c.(1243-1245)GAT>AAT	p.D415N	CCT5_uc003jer.2_Missense_Mutation_p.D415N|CCT5_uc010its.2_Missense_Mutation_p.D415N|CCT5_uc011cmr.1_Missense_Mutation_p.D360N|CCT5_uc011cms.1_Missense_Mutation_p.D377N|CCT5_uc011cmt.1_Missense_Mutation_p.D322N	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	415					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						CCTCATCCGCGATAATCGTGT	0.493		NA											30	135					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13721328	13721328	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13721328C>A	uc003jfd.2	-	71	12102	c.12060G>T	c.(12058-12060)ATG>ATT	p.M4020I	DNAH5_uc003jfc.2_Missense_Mutation_p.M188I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4020	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATTTTTCTCCCATGGAGTCCA	0.393		NA							Kartagener_syndrome				71	81					2.3e-22	3.26e-22	1	0
DNAH5	1767	broad.mit.edu	37	5	13792157	13792157	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13792157A>G	uc003jfd.2	-	50	8436	c.8394T>C	c.(8392-8394)TCT>TCC	p.S2798S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2798	AAA 3 (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)					GCCAGACCCGAGAAAGATCTC	0.408		NA							Kartagener_syndrome				13	80					0	0	0	0
CDH12	1010	broad.mit.edu	37	5	21755861	21755861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:21755861C>G	uc010iuc.2	-	11	2182	c.1724G>C	c.(1723-1725)AGC>ACC	p.S575T	CDH12_uc011cno.1_Missense_Mutation_p.S535T|CDH12_uc003jgk.2_Missense_Mutation_p.S575T|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	575	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GACAGGGTAGCTGCTGTCTTC	0.453		NA								HNSCC(59;0.17)			31	139					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23522816	23522816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23522816C>G	uc003jgo.2	+	8	886	c.704C>G	c.(703-705)CCC>CGC	p.P235R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AAGGGGCACCCCAACCGTTCA	0.562		NA								HNSCC(3;0.000094)			30	55					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23527713	23527713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23527713G>A	uc003jgo.2	+	11	2698	c.2516G>A	c.(2515-2517)CGG>CAG	p.R839Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GAGTGTGGGCGGGGCTTTCGC	0.592		NA								HNSCC(3;0.000094)			70	188					0	0	0	0
PRLR	5618	broad.mit.edu	37	5	35065550	35065550	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:35065550C>A	uc003jjm.2	-	10	2040	c.1510G>T	c.(1510-1512)GCT>TCT	p.A504S	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A403S	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	504	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGGGTTTAGCGGAGCCAAAG	0.522		NA											72	160					4.15e-37	6.2e-37	1	0
LIFR	3977	broad.mit.edu	37	5	38486048	38486048	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:38486048G>A	uc010ive.1	-	17	2702	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	LIFR_uc003jli.2_Silent_p.D790D	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	790	Fibronectin type-III 6.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TCTGGGATATGTCAGTAATAT	0.408		NA	T	PLAG1	salivary adenoma								14	74					0	0	0	0
FYB	2533	broad.mit.edu	37	5	39135036	39135036	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:39135036C>T	uc003jls.2	-	7	1663	c.1596G>A	c.(1594-1596)AAG>AAA	p.K532K	FYB_uc003jlt.2_Silent_p.K532K|FYB_uc003jlu.2_Silent_p.K532K|FYB_uc011cpl.1_Silent_p.K542K	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	532	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTCTCCTTGCTTGAAGCTCA	0.423		NA											60	85					0	0	0	0
C7	730	broad.mit.edu	37	5	40931225	40931225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:40931225G>A	uc003jmh.2	+	3	236	c.122G>A	c.(121-123)GGC>GAC	p.G41D	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	41	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GAATGCAATGGCTGTACCAAG	0.423		NA											25	54					0	0	0	0
MSH3	4437	broad.mit.edu	37	5	80168934	80168934	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:80168934G>T	uc003kgz.2	+	23	3384	c.3131_splice	c.e23-1	p.G1044_splice		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3						maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATTTCACAGGCGCAGCAGA	0.363		NA						MMR					38	120					4.18e-13	5.5e-13	1	0
MEF2C	4208	broad.mit.edu	37	5	88027668	88027668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:88027668C>T	uc003kjj.2	-	7	1361	c.688G>A	c.(688-690)GGT>AGT	p.G230S	MEF2C_uc003kji.2_Missense_Mutation_p.G230S|MEF2C_uc003kjk.2_Missense_Mutation_p.G230S|MEF2C_uc003kjm.2_Missense_Mutation_p.G228S|MEF2C_uc003kjl.2_Missense_Mutation_p.G248S	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	230					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCAAGTTACCAGGTGAGACC	0.423		NA								HNSCC(66;0.2)			10	36					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90073745	90073745	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:90073745T>C	uc003kju.2	+	62	12647	c.12551T>C	c.(12550-12552)TTG>TCG	p.L4184S	GPR98_uc003kjt.2_Missense_Mutation_p.L1890S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4184	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGGATTTTGGGGGAGGTC	0.423		NA											13	43					0	0	0	0
MCTP1	79772	broad.mit.edu	37	5	94619883	94619883	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:94619883C>A	uc003kkx.2	-	1	397	c.397G>T	c.(397-399)GTA>TTA	p.V133L		NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	133					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCCCCTTTACGGCGGGGAGC	0.602		NA											4	5					1.24e-05	1.42e-05	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101597728	101597728	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:101597728G>T	uc003knm.2	-	5	1196	c.909C>A	c.(907-909)GTC>GTA	p.V303V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	303	Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATCCTCAGTGACATCAGTGC	0.358		NA											13	52					1.58e-08	1.94e-08	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102491630	102491630	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:102491630G>A	uc003kod.3	+	14	1940	c.1421G>A	c.(1420-1422)GGA>GAA	p.G474E	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G474E|PPIP5K2_uc010jbo.1_Missense_Mutation_p.G396E	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	474					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						CATTTTTCTGGAATAAATCGT	0.333		NA											18	34					0	0	0	0
STARD4	134429	broad.mit.edu	37	5	110835766	110835766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:110835766C>T	uc003kph.1	-	6	520	c.436G>A	c.(436-438)GTT>ATT	p.V146I	STARD4_uc010jbw.1_Missense_Mutation_p.V48I|STARD4_uc010jbx.1_Missense_Mutation_p.V48I|STARD4_uc003kpi.1_RNA	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	146	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TATCCTCGAACAAATTCTGGT	0.363		NA											23	72					0	0	0	0
AQPEP	206338	broad.mit.edu	37	5	115298688	115298688	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:115298688T>C	uc003kro.2	+	1	538	c.374T>C	c.(373-375)TTG>TCG	p.L125S	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	125	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						GCCGGGTCTTTGCCCTTCACT	0.687		NA											28	87					0	0	0	0
SLC22A4	6583	broad.mit.edu	37	5	131630517	131630517	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:131630517C>A	uc003kwq.2	+	1	373	c.208C>A	c.(208-210)CGG>AGG	p.R70R	uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	70	Extracellular (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTCCCGCTGCGGCTGCGGGA	0.721		NA											6	23					2.01e-06	2.34e-06	1	0
MYOT	9499	broad.mit.edu	37	5	137206561	137206561	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:137206561A>T	uc011cye.1	+	2	238	c.221A>T	c.(220-222)AAG>ATG	p.K74M	MYOT_uc003lbv.2_Missense_Mutation_p.Q74L|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	74					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTTCTCCCAAGCAGCATGCT	0.532		NA											32	80					0	0	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175845	140175845	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140175845G>A	uc003lhd.2	+	1	1402	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S432S|PCDHA2_uc011czy.1_Silent_p.S432S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627		NA											28	78					0	0	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182638	140182638	+	Missense_Mutation	SNP	G	G	A	rs146046778		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140182638G>A	uc003lhf.2	+	1	1856	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R619H	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGCGCGCATCCCGTTT	0.672		NA											4	70					0	0	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203530	140203530	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140203530G>T	uc003lhl.2	+	1	2170	c.2170G>T	c.(2170-2172)GCG>TCG	p.A724S	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_Missense_Mutation_p.A724S|PCDHA5_uc003lhj.1_Missense_Mutation_p.A724S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	724	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGCTCGGCGCAGCCCAC	0.657		NA											24	52					4.78e-09	5.92e-09	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215375	140215375	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140215375G>T	uc003lhq.2	+	1	1407	c.1407G>T	c.(1405-1407)CCG>CCT	p.P469P	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_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.P469P	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.P469P(1)		ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.682		NA											17	47					9.58e-11	1.22e-10	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140389511	140389511	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140389511A>T	uc003lii.2	+	4	3253	c.3013A>T	c.(3013-3015)AGT>TGT	p.S1005C	PCDHA1_uc003lha.2_Missense_Mutation_p.S684C|PCDHA1_uc003lhb.2_Missense_Mutation_p.S948C|PCDHA2_uc003lhd.2_Missense_Mutation_p.S946C|PCDHA3_uc003lhf.2_Missense_Mutation_p.S948C|PCDHA4_uc003lhi.2_Missense_Mutation_p.S945C|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Missense_Mutation_p.S934C|PCDHA6_uc003lhn.2_Missense_Mutation_p.S684C|PCDHA6_uc003lho.2_Missense_Mutation_p.S948C|PCDHA7_uc003lhq.2_Missense_Mutation_p.S935C|PCDHA8_uc003lhs.2_Missense_Mutation_p.S948C|PCDHA9_uc003lhu.2_Missense_Mutation_p.S948C|PCDHA10_uc003lhw.2_Missense_Mutation_p.S683C|PCDHA10_uc003lhx.2_Missense_Mutation_p.S946C|PCDHA11_uc003lia.2_Missense_Mutation_p.S947C|PCDHA12_uc003lic.2_Missense_Mutation_p.S939C|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Missense_Mutation_p.S948C|PCDHAC1_uc003lih.2_Missense_Mutation_p.S961C	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	1005	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGACAACAGTGACCAGTG	0.363		NA											32	81					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531310	140531310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140531310C>A	uc003lir.2	+	1	1472	c.1472C>A	c.(1471-1473)CCC>CAC	p.P491H	PCDHB6_uc011dah.1_Missense_Mutation_p.P355H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	491	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGCCGCCCCAGGACCCG	0.657		NA											17	118					4.35e-09	5.42e-09	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589727	140589727	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140589727G>A	uc003liz.2	+	1	1437	c.1248G>A	c.(1246-1248)GAG>GAA	p.E416E	PCDHB12_uc011dak.1_Silent_p.E79E	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	416	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGCCGAGTACAACATCA	0.522		NA											18	60					0	0	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711622	140711622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140711622C>A	uc003lji.1	+	1	1371	c.1371C>A	c.(1369-1371)TAC>TAA	p.Y457*	PCDHGA1_uc011dan.1_Nonsense_Mutation_p.Y457*	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	457	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCCTACTCTGCCTACA	0.478		NA											38	103					1.04e-10	1.33e-10	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723908	140723908	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140723908T>A	uc003ljm.1	+	1	308	c.308T>A	c.(307-309)CTG>CAG	p.L103Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.L103Q	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTGTGTCTGGTAAAAATT	0.433		NA											19	49					0	0	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768224	140768224	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140768224G>T	uc003lkc.1	+	1	773	c.773G>T	c.(772-774)GGG>GTG	p.G258V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.G258V	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	258	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTACCCGGGGACCACGGTG	0.498		NA											44	150					1.3e-32	1.93e-32	1	0
SH3TC2	79628	broad.mit.edu	37	5	148427468	148427468	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:148427468C>G	uc003lpu.2	-	3	388	c.236G>C	c.(235-237)TGG>TCG	p.W79S	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.W79S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.W79S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	79							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGTGCCCAGAGCCGCCT	0.393		NA											40	139					0	0	0	0
IL12B	3593	broad.mit.edu	37	5	158750296	158750296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:158750296C>A	uc003lxr.1	-	3	172	c.130G>T	c.(130-132)GAA>TAA	p.E44*		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	44	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCATTTCTCCAGGGGCA	0.413		NA											13	35					1.58e-08	1.94e-08	1	0
NSD1	64324	broad.mit.edu	37	5	176638275	176638275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176638275G>T	uc003mfr.3	+	5	3013	c.2875G>T	c.(2875-2877)GGA>TGA	p.G959*	NSD1_uc003mft.3_Nonsense_Mutation_p.G690*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G856*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G607*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	959					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGGTTTCAGGAGGCTCCAC	0.512		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			12	39					6.4e-05	7.16e-05	1	0
NSD1	64324	broad.mit.edu	37	5	176707725	176707725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176707725G>T	uc003mfr.3	+	18	5920	c.5782G>T	c.(5782-5784)GGA>TGA	p.G1928*	NSD1_uc003mft.3_Nonsense_Mutation_p.G1659*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G1825*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G1576*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1928	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCTGCCGGAGGGCGCTG	0.512		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			17	63					3.41e-10	4.32e-10	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032089	26032089	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26032089G>C	uc003nfs.1	-	1	200	c.200C>G	c.(199-201)CCG>CGG	p.P67R		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	67					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						GCGCTGGAACGGCAGCTTCCG	0.617		NA											12	138					0	0	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451920	26451920	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26451920C>A	uc003nhz.2	+	11	1216	c.1036C>A	c.(1036-1038)CCA>ACA	p.P346T	BTN3A3_uc003nia.2_Missense_Mutation_p.P304T|BTN3A3_uc011dkn.1_Missense_Mutation_p.P297T	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	346	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						GATTCTGGATCCAGACACGGC	0.552		NA											24	43					2.89e-11	3.71e-11	1	0
ZNF192	7745	broad.mit.edu	37	6	28120855	28120855	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28120855A>G	uc003nkn.1	+	6	981	c.797A>G	c.(796-798)AAC>AGC	p.N266S	ZNF192_uc010jqx.1_Missense_Mutation_p.N266S|ZNF192_uc010jqy.1_Missense_Mutation_p.N79S|ZNF192_uc011dkz.1_Missense_Mutation_p.N79S	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	266	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGGAGTGAGAACAGGGAATTA	0.418		NA											17	112					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28547174	28547174	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28547174T>G	uc003nlo.2	-	2	1061	c.443A>C	c.(442-444)CAG>CCG	p.Q148P		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	148					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGAAACTTCCTGCCCATATGT	0.408		NA											20	136					0	0	0	0
OR14J1	442191	broad.mit.edu	37	6	29275361	29275361	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29275361C>A	uc011dln.1	+	1	895	c.895C>A	c.(895-897)CTG>ATG	p.L299M		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGGCAGCACTGAGGAAGAT	0.303		NA											83	97					4e-42	6.07e-42	1	0
OR10C1	442194	broad.mit.edu	37	6	29408401	29408401	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29408401C>A	uc011dlp.1	+	1	609	c.609C>A	c.(607-609)GCC>GCA	p.A203A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGCAACAGCCCTCCTCATCC	0.577		NA											121	238					2.75e-45	4.18e-45	1	0
TAP2	6891	broad.mit.edu	37	6	32805816	32805816	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:32805816C>G	uc003occ.2	-	1	226	c.195G>C	c.(193-195)CTG>CTC	p.L65L	TAP2_uc011dqf.1_Silent_p.L65L|TAP2_uc003ocb.1_Silent_p.L65L|TAP2_uc003ocd.2_Silent_p.L65L	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	65	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GCGGGAGCAGCAGTGTCCCCA	0.672		NA											24	98					0	0	0	0
PIM1	5292	broad.mit.edu	37	6	37138806	37138806	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:37138806T>C	uc003onk.2	+	3	669	c.239T>C	c.(238-240)CTG>CCG	p.L80P	PIM1_uc011dtw.1_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	171	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGGGAGAGCTGGTGAGTGCC	0.677		NA	T	BCL6	NHL								4	131					0	0	0	0
MEP1A	4224	broad.mit.edu	37	6	46800982	46800982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:46800982G>A	uc010jzh.1	+	11	1358	c.1316G>A	c.(1315-1317)CGG>CAG	p.R439Q	MEP1A_uc011dwg.1_Missense_Mutation_p.R161Q|MEP1A_uc011dwh.1_Missense_Mutation_p.R467Q|MEP1A_uc011dwi.1_Missense_Mutation_p.R339Q	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	439	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TGGACAGTCCGGAATTTCTCC	0.512		NA											32	103					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51732776	51732776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:51732776G>C	uc003pah.1	-	48	7894	c.7618C>G	c.(7618-7620)CTT>GTT	p.L2540V	PKHD1_uc010jzn.1_Missense_Mutation_p.L523V|PKHD1_uc003pai.2_Missense_Mutation_p.L2540V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2540	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATAGAAGCAAGAATGTGACTT	0.438		NA											12	78					0	0	0	0
DST	667	broad.mit.edu	37	6	56496758	56496758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:56496758G>A	uc003pdf.2	-	28	3815	c.3787C>T	c.(3787-3789)CGG>TGG	p.R1263W	DST_uc003pcz.3_Missense_Mutation_p.R1085W|DST_uc011dxj.1_Missense_Mutation_p.R1114W|DST_uc011dxk.1_Missense_Mutation_p.R1125W|DST_uc003pcy.3_Missense_Mutation_p.R759W|DST_uc003pdb.2_Missense_Mutation_p.R759W|DST_uc003pdc.3_Missense_Mutation_p.R759W|DST_uc003pdd.3_Missense_Mutation_p.R759W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1085					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAATCAGCCGATCTTCACAG	0.388		NA											35	103					0	0	0	0
BAI3	577	broad.mit.edu	37	6	69646437	69646438	+	Missense_Mutation	DNP	CA	CA	TC			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646437_69646438CA>TC	uc003pev.3	+	5	1343_1344	c.895_896CA>TC	c.(895-897)CAG>TCG	p.Q299S	BAI3_uc010kak.2_Missense_Mutation_p.Q299S	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGAGTGGTCCCAGTGGAGCACA	0.46		NA											19	26					0	0	0	0
C6orf221	154288	broad.mit.edu	37	6	74073333	74073333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:74073333G>A	uc003pgt.3	+	3	457	c.404G>A	c.(403-405)CGG>CAG	p.R135Q		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	135										skin(2)	2						GAGACCCAGCGGTCTTCAATA	0.637		NA											21	85					0	0	0	0
LCA5	167691	broad.mit.edu	37	6	80201313	80201313	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:80201313G>A	uc003pix.2	-	6	1525	c.1090C>T	c.(1090-1092)CTT>TTT	p.L364F	LCA5_uc003piy.2_Missense_Mutation_p.L364F|LCA5_uc011dyq.1_RNA	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	364					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCAAAGTAAGATGTCCTGGT	0.343		NA											40	197					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90472244	90472244	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:90472244T>G	uc003pnn.1	-	16	2266	c.2150A>C	c.(2149-2151)AAA>ACA	p.K717T	MDN1_uc003pno.1_Missense_Mutation_p.K135T	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	717					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCCACCGGTTTATAACTGAA	0.408		NA											17	72					0	0	0	0
FHL5	9457	broad.mit.edu	37	6	97051592	97051592	+	Missense_Mutation	SNP	C	C	A	rs138154376		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97051592C>A	uc003pos.1	+	3	508	c.103C>A	c.(103-105)CGT>AGT	p.R35S	FHL5_uc003pot.1_Missense_Mutation_p.R35S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	35						nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGTTATGATCGTGTATTTTC	0.368		NA											47	100					3.05e-18	4.25e-18	1	0
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97053872C>A	uc003pos.1	+	5	834	c.429C>A	c.(427-429)ATC>ATA	p.I143I	FHL5_uc003pot.1_Silent_p.I143I	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	143	LIM zinc-binding 2.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413		NA											34	72					3.11e-16	4.23e-16	1	0
KLHL32	114792	broad.mit.edu	37	6	97562024	97562024	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97562024C>A	uc010kcm.1	+	7	1465	c.993C>A	c.(991-993)CCC>CCA	p.P331P	KLHL32_uc003poy.2_Silent_p.P331P|KLHL32_uc011ead.1_Silent_p.P295P|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.P262P|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	331	Kelch 1.			P -> S (in Ref. 1; BAB70899).						ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGCTGGCTCCCATGCCTGTGG	0.567		NA											23	89					1.66e-10	2.11e-10	1	0
AIM1	202	broad.mit.edu	37	6	106987308	106987308	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:106987308G>A	uc003prh.2	+	7	4012	c.3525G>A	c.(3523-3525)CAG>CAA	p.Q1175Q	AIM1_uc003pri.2_5'Flank	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1175	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGGATTTCAGGGTGTTCCTT	0.453		NA											41	188					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:112469437G>T	uc003pvu.2	-	18	2584	c.2275C>A	c.(2275-2277)CTA>ATA	p.L759I	LAMA4_uc003pvv.2_Missense_Mutation_p.L752I|LAMA4_uc003pvt.2_Missense_Mutation_p.L752I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517		NA											27	108					4.78e-09	5.92e-09	1	0
C6orf174	387104	broad.mit.edu	37	6	127797032	127797032	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:127797032G>T	uc003qbd.2	-	6	3004	c.2139C>A	c.(2137-2139)AAC>AAA	p.N713K	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	713	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGCTGAGCTCGTTGATCTGCA	0.652		NA											31	139					1.07e-11	1.38e-11	1	0
EYA4	2070	broad.mit.edu	37	6	133769305	133769305	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:133769305T>A	uc003qec.3	+	5	723	c.265T>A	c.(265-267)TCT>ACT	p.S89T	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.S89T|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Missense_Mutation_p.S89T|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAACACCCCCTCTTCTGCAAC	0.453		NA											21	48					0	0	0	0
TBPL1	9519	broad.mit.edu	37	6	134305618	134305618	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:134305618G>A	uc010kgg.2	+	5	946	c.386_splice	c.e5+1	p.S129_splice	TBPL1_uc003qel.2_Splice_Site_p.S129_splice	NM_004865	NP_004856	P62380	TBPL1_HUMAN	TBP-like 1						regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		CTCATGCCAGGTAAGTCTTTG	0.318		NA											19	58					0	0	0	0
AHI1	54806	broad.mit.edu	37	6	135788738	135788738	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:135788738T>C	uc003qgi.2	-	6	554	c.170A>G	c.(169-171)AAA>AGA	p.K57R	AHI1_uc003qgh.2_Missense_Mutation_p.K57R|AHI1_uc003qgj.2_Missense_Mutation_p.K57R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K57R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	57						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTAGTTTCTTTCATATAGTG	0.343		NA											11	39					0	0	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596736	136596736	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:136596736G>T	uc003qgx.1	-	6	2039	c.1786C>A	c.(1786-1788)CAG>AAG	p.Q596K	BCLAF1_uc003qgw.1_Missense_Mutation_p.Q423K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q594K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q594K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	596					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCTGGCCTGTGGCAACTTA	0.398		NA											19	289					7.42e-09	9.12e-09	1	0
SHPRH	257218	broad.mit.edu	37	6	146244822	146244822	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146244822T>A	uc003qlf.2	-	18	3901	c.3502A>T	c.(3502-3504)AGC>TGC	p.S1168C	SHPRH_uc003qld.2_Missense_Mutation_p.S1177C|SHPRH_uc003qle.2_Missense_Mutation_p.S1177C|SHPRH_uc003qlg.1_Missense_Mutation_p.S724C|SHPRH_uc003qlh.2_Missense_Mutation_p.S93C|SHPRH_uc003qli.1_Missense_Mutation_p.S93C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1168					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGTAGTTGCTGGTTATTTCA	0.358		NA											65	114					0	0	0	0
RAB32	10981	broad.mit.edu	37	6	146865142	146865142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146865142C>G	uc003qln.1	+	1	315	c.135C>G	c.(133-135)TAC>TAG	p.Y45*		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.557		NA											17	75					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152640010	152640010	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152640010T>A	uc010kiw.2	-	85	16979	c.16377A>T	c.(16375-16377)AAA>AAT	p.K5459N	SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.K5388N|SYNE1_uc003qou.3_Missense_Mutation_p.K5459N|SYNE1_uc010kiz.2_Missense_Mutation_p.K1214N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5459	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGGTCAGTTTTAGCTTGAA	0.363		NA								HNSCC(10;0.0054)			10	50					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152702445	152702445	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152702445G>C	uc010kiw.2	-	56	9307	c.8705C>G	c.(8704-8706)TCG>TGG	p.S2902W	SYNE1_uc003qot.3_Missense_Mutation_p.S2909W|SYNE1_uc003qou.3_Missense_Mutation_p.S2902W|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.S2885W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2902	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGAGCCAGCGACTCCACTCT	0.542		NA								HNSCC(10;0.0054)			40	245					0	0	0	0
TIAM2	26230	broad.mit.edu	37	6	155578189	155578189	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155578189C>G	uc003qqb.2	+	29	6313	c.5040C>G	c.(5038-5040)GTC>GTG	p.V1680V	TIAM2_uc003qqe.2_Silent_p.V1680V|TIAM2_uc010kjj.2_Silent_p.V1242V|TIAM2_uc003qqf.2_Silent_p.V1056V|TIAM2_uc011efl.1_Silent_p.V1024V|TIAM2_uc003qqg.2_Silent_p.V992V|TIAM2_uc003qqh.2_Silent_p.V605V|uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATTCAGTGTCCAGAGTTTAA	0.428		NA											15	75					0	0	0	0
NOX3	50508	broad.mit.edu	37	6	155743931	155743931	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155743931C>T	uc003qqm.2	-	10	1308	c.1205G>A	c.(1204-1206)TGT>TAT	p.C402Y		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	402	Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AACGCACACACACACTGGGTA	0.532		NA											33	196					0	0	0	0
IGF2R	3482	broad.mit.edu	37	6	160511018	160511018	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:160511018A>G	uc003qta.2	+	44	6686	c.6538A>G	c.(6538-6540)ATC>GTC	p.I2180V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2180	15.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTTTCCTCCATCACAAGCTC	0.512		NA											61	92					0	0	0	0
PDE10A	10846	broad.mit.edu	37	6	165749685	165749685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:165749685C>G	uc003qun.2	-	22	2405	c.2164G>C	c.(2164-2166)GCC>CCC	p.A722P	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A652P|PDE10A_uc003quo.2_Missense_Mutation_p.A732P	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	722					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATGGCCACGGCATTGTAGAAC	0.453		NA											9	57					0	0	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585706	167585706	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:167585706G>T	uc010kkp.2	+	2	205	c.74G>T	c.(73-75)GGG>GTG	p.G25V		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	25											0						CCGGGAGCTGGGGCTGCCATG	0.652		NA											13	24					1.03e-11	1.33e-11	1	0
C6orf120	387263	broad.mit.edu	37	6	170102735	170102735	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:170102735C>A	uc003qxb.2	+	1	479	c.180C>A	c.(178-180)AAC>AAA	p.N60K	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.N79K	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263 precursor	60						extracellular region					0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		TGCGGCTGAACCACGAGGGCA	0.647		NA											36	60					8.74e-17	1.19e-16	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6066485	6066485	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:6066485C>A	uc003spp.2	-	14	1784	c.1638G>T	c.(1636-1638)CCG>CCT	p.P546P	EIF2AK1_uc003spq.2_Silent_p.P545P|EIF2AK1_uc011jwm.1_Silent_p.P422P	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	546	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGGGATTCCGGCAACTGAC	0.498		NA											66	122					2.19e-23	3.14e-23	1	0
COL28A1	340267	broad.mit.edu	37	7	7400084	7400084	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:7400084T>G	uc003src.1	-	34	3259	c.3142A>C	c.(3142-3144)ACC>CCC	p.T1048P	COL28A1_uc011jxe.1_Missense_Mutation_p.T731P	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	1048					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGATGAGGTAGTGGCAGGC	0.517		NA											50	79					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18975437	18975437	+	Missense_Mutation	SNP	G	G	T	rs78483718		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:18975437G>T	uc003suh.2	+	22	2841	c.2800G>T	c.(2800-2802)GGT>TGT	p.G934C	HDAC9_uc003sue.2_Missense_Mutation_p.G934C|HDAC9_uc003sui.2_Missense_Mutation_p.G937C|HDAC9_uc003suj.2_Missense_Mutation_p.G893C|HDAC9_uc003suk.2_Missense_Mutation_p.G182C	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	934	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTAGGTTTTGGTCATTTGAC	0.343		NA											86	155					3.01e-42	4.58e-42	1	0
MACC1	346389	broad.mit.edu	37	7	20198323	20198323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:20198323C>A	uc003sus.3	-	5	1970	c.1661G>T	c.(1660-1662)GGG>GTG	p.G554V	MACC1_uc010kug.2_Missense_Mutation_p.G554V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	554	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						CAGGGTTACCCCATAGTTGCT	0.378		NA											38	248					6.34e-27	9.21e-27	1	0
AMPH	273	broad.mit.edu	37	7	38431464	38431464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38431464T>A	uc003tgu.2	-	19	1832	c.1763A>T	c.(1762-1764)CAG>CTG	p.Q588L	AMPH_uc003tgv.2_Missense_Mutation_p.Q546L|AMPH_uc003tgt.2_Missense_Mutation_p.Q473L|AMPH_uc003tgw.1_Missense_Mutation_p.Q611L|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	588					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GATAGGCTTCTGCTCCGTAGC	0.622		NA											24	30					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38530704	38530704	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38530704C>G	uc003tgu.2	-	5	411	c.342G>C	c.(340-342)GTG>GTC	p.V114V	AMPH_uc003tgv.2_Silent_p.V114V	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	114	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AGGACCCATCCACGAGTTTTT	0.403		NA											140	211					0	0	0	0
GCK	2645	broad.mit.edu	37	7	44184836	44184836	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44184836T>A	uc003tkl.2	-	10	1767	c.1297A>T	c.(1297-1299)AGC>TGC	p.S433C	GCK_uc003tkh.1_Missense_Mutation_p.S106C|GCK_uc003tki.1_Missense_Mutation_p.S111C|GCK_uc003tkj.1_Missense_Mutation_p.S432C|GCK_uc003tkk.1_Missense_Mutation_p.S434C	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						ATCTCGCAGCTGGGCGTCAGC	0.657		NA											15	25					0	0	0	0
CAMK2B	816	broad.mit.edu	37	7	44259804	44259804	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44259804T>A	uc003tkq.2	-	23	2068	c.1858A>T	c.(1858-1860)ATC>TTC	p.I620F	CAMK2B_uc003tkp.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkx.2_Missense_Mutation_p.I456F|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I472F|CAMK2B_uc003tks.2_Missense_Mutation_p.I471F|CAMK2B_uc003tku.2_Missense_Mutation_p.I457F|CAMK2B_uc003tkv.2_Missense_Mutation_p.I433F|CAMK2B_uc003tkt.2_Missense_Mutation_p.I446F|CAMK2B_uc003tkw.2_Missense_Mutation_p.I403F|CAMK2B_uc010kyc.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkn.2_Missense_Mutation_p.I253F	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	620					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						GTGAGCCGGATGTAAGCGATG	0.642		NA											9	40					0	0	0	0
H2AFV	94239	broad.mit.edu	37	7	44880522	44880522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44880522C>A	uc003tma.2	-	3	326	c.171G>T	c.(169-171)GCG>GCT	p.A57A	H2AFV_uc003tlz.2_Silent_p.A57A|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.A57A|H2AFV_uc003tmd.2_Silent_p.A31A	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	57					nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACTCCAGAATCGCAGCACTGT	0.512		NA											9	47					7.48e-07	8.86e-07	1	0
PURB	5814	broad.mit.edu	37	7	44924479	44924479	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44924479A>T	uc003tme.2	-	1	482	c.469T>A	c.(469-471)TTC>ATC	p.F157I		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	157	Gly-rich.|By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						cccgcgccgAAGCCGCCACCG	0.577		NA											3	6					0	0	0	0
PKD1L1	168507	broad.mit.edu	37	7	47870817	47870817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:47870817G>C	uc003tny.1	-	42	6471	c.6471C>G	c.(6469-6471)TAC>TAG	p.Y2157*	C7orf69_uc003toa.1_RNA	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2157	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CAGCTCACCTGTAGGCTAGAA	0.507		NA											58	84					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48356867	48356867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:48356867C>T	uc003toq.2	+	27	9998	c.9973C>T	c.(9973-9975)CCA>TCA	p.P3325S	ABCA13_uc010kys.1_Missense_Mutation_p.P399S|ABCA13_uc003tos.1_Missense_Mutation_p.P151S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3325					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ACCAAACACTCCAGAAATTAA	0.333		NA											8	50					0	0	0	0
HIP1	3092	broad.mit.edu	37	7	75174442	75174442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:75174442C>T	uc003uds.1	-	26	2645	c.2604G>A	c.(2602-2604)TGG>TGA	p.W868*	HIP1_uc011kfz.1_Nonsense_Mutation_p.W694*	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	868	Important for actin binding (By similarity).|I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GTCCTTCTGTCCATCGAGAGT	0.393		NA	T	PDGFRB	CMML								72	215					0	0	0	0
PTPN12	5782	broad.mit.edu	37	7	77256227	77256227	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:77256227A>C	uc003ugh.2	+	13	1322	c.1231A>C	c.(1231-1233)AAA>CAA	p.K411Q	PTPN12_uc011kgp.1_Missense_Mutation_p.K292Q|PTPN12_uc011kgq.1_Missense_Mutation_p.K281Q|PTPN12_uc010lds.2_Missense_Mutation_p.K143Q	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	411	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						AAACTATAGTAAATCAACAGA	0.368		NA											14	82					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620521	81620521	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:81620521A>T	uc003uhr.1	-	21	2032	c.1776T>A	c.(1774-1776)CCT>CCA	p.P592P		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	611	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCATTGACAGGTGTCCATG	0.303		NA											16	105					0	0	0	0
CALCR	799	broad.mit.edu	37	7	93106955	93106955	+	Silent	SNP	A	A	G	rs139631014	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93106955A>G	uc003umv.1	-	5	546	c.285T>C	c.(283-285)GAT>GAC	p.D95D	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.D77D|CALCR_uc003umw.2_Silent_p.D77D	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	77	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACAGCCATCCATCCCAGGTGC	0.428		NA											29	63					0	0	0	0
BET1	10282	broad.mit.edu	37	7	93628607	93628607	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93628607C>A	uc003unf.1	-	2	182	c.20_splice	c.e2-1	p.G7_splice	BET1_uc003une.3_Splice_Site	NM_005868	NP_005859	O15155	BET1_HUMAN	blocked early in transport 1						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding				0	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			ACTCCTTCACCTGCAAGGATC	0.458		NA											33	66					5.83e-16	7.89e-16	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519481	113519481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:113519481C>T	uc010ljy.1	-	4	1697	c.1666G>A	c.(1666-1668)GGA>AGA	p.G556R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	556					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TTACTAGCTCCAATCCCTGCC	0.418		NA											64	136					0	0	0	0
C7orf58	79974	broad.mit.edu	37	7	120764512	120764512	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:120764512C>A	uc003vjq.3	+	8	1493	c.1046C>A	c.(1045-1047)CCA>CAA	p.P349Q	C7orf58_uc003vjr.1_Missense_Mutation_p.P349Q|C7orf58_uc003vjs.3_Missense_Mutation_p.P349Q|C7orf58_uc003vjt.3_Missense_Mutation_p.P129Q|C7orf58_uc010lkk.1_Missense_Mutation_p.P129Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	349						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					ACTCTGGGACCAAAGACCTTC	0.338		NA											23	79					6.33e-13	8.31e-13	1	0
DGKI	9162	broad.mit.edu	37	7	137206698	137206698	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:137206698G>C	uc003vtt.2	-	21	2163	c.2162C>G	c.(2161-2163)CCA>CGA	p.P721R	DGKI_uc003vtu.2_Missense_Mutation_p.P421R	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	721					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CAGACGATCTGGGACAGACTG	0.458		NA											15	46					0	0	0	0
TRPV5	56302	broad.mit.edu	37	7	142605970	142605970	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142605970C>T	uc003wby.1	-	15	2164	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	634	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TTGTGGTTCTCAACCCTGATA	0.502		NA											33	82					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844745	147844745	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:147844745G>C	uc003weu.1	+	17	3233	c.2717G>C	c.(2716-2718)CGC>CCC	p.R906P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	906	Laminin G-like 3.|Extracellular (Potential).		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCAGATCCGCAAGGCCCCA	0.557		NA								HNSCC(39;0.1)			35	79					0	0	0	0
DPP6	1804	broad.mit.edu	37	7	154519576	154519576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:154519576C>T	uc003wlk.2	+	8	991	c.862C>T	c.(862-864)CTC>TTC	p.L288F	DPP6_uc003wli.2_Missense_Mutation_p.L224F|DPP6_uc003wlm.2_Missense_Mutation_p.L226F|DPP6_uc011kvq.1_Missense_Mutation_p.L181F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	288	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACAATGGCCTCAGTGACTG	0.428		NA											26	61					0	0	0	0
NCAPG2	54892	broad.mit.edu	37	7	158445168	158445168	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:158445168C>T	uc003wnv.1	-	23	2896	c.2751G>A	c.(2749-2751)AAG>AAA	p.K917K	NCAPG2_uc010lqu.1_Silent_p.K709K|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.K917K|NCAPG2_uc011kwe.1_Silent_p.K917K|NCAPG2_uc011kwc.1_Silent_p.K418K|NCAPG2_uc011kwd.1_Silent_p.K360K	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	917					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATCCCTTCACTAGAA	0.303		NA											18	53					0	0	0	0
RP1L1	94137	broad.mit.edu	37	8	10465328	10465328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:10465328C>T	uc003wtc.2	-	4	6509	c.6280G>A	c.(6280-6282)GCC>ACC	p.A2094T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2094					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGCTGGGCCTCCCCTTCT	0.627		NA											171	177					0	0	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733170	52733170	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:52733170G>C	uc003xqx.3	-	6	1156	c.815C>G	c.(814-816)GCT>GGT	p.A272G	PCMTD1_uc011ldm.1_Missense_Mutation_p.A142G|PCMTD1_uc003xqw.3_Missense_Mutation_p.A272G|PCMTD1_uc011ldn.1_Missense_Mutation_p.A84G|PCMTD1_uc010lya.2_Missense_Mutation_p.A196G	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTTGGGTGGAGCCCTTTGAGG	0.403		NA											37	320					0	0	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54669197	54669197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:54669197C>A	uc003xrl.2	-	12	1347	c.1195G>T	c.(1195-1197)GAA>TAA	p.E399*	ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.E359*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.E399*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.E381*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.E319*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.E335*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	399					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCTGACACTTCCAAAAGTTTT	0.378		NA											9	53					0.000274275	0.000299902	1	0
XKR4	114786	broad.mit.edu	37	8	56015496	56015496	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:56015496T>C	uc003xsf.2	+	1	480	c.448T>C	c.(448-450)TTC>CTC	p.F150L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	150	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCACGCTCTTCTTCGTGGT	0.662		NA											13	59					0	0	0	0
CLVS1	157807	broad.mit.edu	37	8	62212769	62212769	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:62212769G>C	uc003xuh.2	+	2	707	c.383G>C	c.(382-384)GGG>GCG	p.G128A	CLVS1_uc003xug.2_Missense_Mutation_p.G128A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.G128A	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	128	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						GGGTTCCCCGGGGTGCTGGAA	0.478		NA											33	56					0	0	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029586	93029586	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:93029586T>A	uc003yfd.2	-	2	178	c.94A>T	c.(94-96)ACT>TCT	p.T32S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.T5S|RUNX1T1_uc003yfe.1_5'UTR|RUNX1T1_uc010mao.2_Missense_Mutation_p.T5S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T43S|RUNX1T1_uc003yfh.1_5'UTR|RUNX1T1_uc003yfb.1_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.1_5'UTR	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	32					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)			TGCTTCTCAGTACGATCTGGA	0.458		NA											13	92					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448575	110448575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110448575C>G	uc003yne.2	+	30	3618	c.3514C>G	c.(3514-3516)CTA>GTA	p.L1172V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1172	Extracellular (Potential).|IPT/TIG 5.				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)			AGGTGGTACTCTACTGACTTT	0.308		NA								HNSCC(38;0.096)			10	89					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535590	110535590	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110535590C>T	uc003yne.2	+	76	12563	c.12459C>T	c.(12457-12459)TAC>TAT	p.Y4153Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4153	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)			GGGCCAACTACACAGACCTTA	0.393		NA								HNSCC(38;0.096)			58	75					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113599296	113599296	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:113599296T>A	uc003ynu.2	-	23	4043	c.3884A>T	c.(3883-3885)AAG>ATG	p.K1295M	CSMD3_uc003yns.2_Missense_Mutation_p.K567M|CSMD3_uc003ynt.2_Missense_Mutation_p.K1255M|CSMD3_uc011lhx.1_Missense_Mutation_p.K1191M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1295	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCACCTACCTTAAGAACATC	0.249		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			67	57					0	0	0	0
EIF3H	8667	broad.mit.edu	37	8	117658759	117658759	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:117658759G>C	uc003yoa.2	-	7	938	c.912C>G	c.(910-912)CTC>CTG	p.L304L	EIF3H_uc003yob.2_Silent_p.L318L	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	304					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GTGGTTTGAAGAGTTTGGACA	0.542		NA											54	357					0	0	0	0
SNTB1	6641	broad.mit.edu	37	8	121823957	121823957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:121823957C>A	uc010mdg.2	-	1	353	c.127G>T	c.(127-129)GAG>TAG	p.E43*	SNTB1_uc003ype.2_Nonsense_Mutation_p.E43*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	43	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGGCGTCCTCGCTCAAGTTC	0.607		NA											3	60					0.00024832	0.000272669	1	0
TG	7038	broad.mit.edu	37	8	134031938	134031938	+	Missense_Mutation	SNP	G	G	A	rs114404536	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:134031938G>A	uc003ytw.2	+	39	6915	c.6874G>A	c.(6874-6876)GTG>ATG	p.V2292M	TG_uc010mdw.2_Missense_Mutation_p.V1051M|TG_uc011ljb.1_Missense_Mutation_p.V661M|TG_uc011ljc.1_Missense_Mutation_p.V425M	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2292					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTCAGAATGTGGTGAGTTC	0.512		NA											14	96					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139158221	139158221	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139158221A>G	uc003yuy.2	-	15	3692	c.3521T>C	c.(3520-3522)CTA>CCA	p.L1174P	FAM135B_uc003yux.2_Missense_Mutation_p.L1075P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L736P|FAM135B_uc003yvb.2_Silent_p.P701P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1174										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAGACATTAGGAAGTCCAG	0.433		NA								HNSCC(54;0.14)			42	132					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139833581	139833581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139833581C>A	uc003yvd.2	-	7	1490	c.1043G>T	c.(1042-1044)AGG>ATG	p.R348M		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	348	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGACCACCCTGACAGCATC	0.572		NA								HNSCC(7;0.00092)			44	240					1.97e-11	2.54e-11	1	0
PUF60	22827	broad.mit.edu	37	8	144900183	144900183	+	Silent	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144900183T>G	uc003yzs.2	-	8	730	c.666A>C	c.(664-666)GCA>GCC	p.A222A	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.A162A|PUF60_uc003yzt.2_Silent_p.A205A|PUF60_uc003yzq.2_Silent_p.A179A|PUF60_uc003yzu.1_Silent_p.A211A	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	222	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAAGGCCCGTGCCTCCTCAG	0.587		NA											5	43					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144994359	144994359	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144994359C>G	uc003zaf.1	-	32	10211	c.10041G>C	c.(10039-10041)CTG>CTC	p.L3347L	PLEC_uc003zab.1_Silent_p.L3210L|PLEC_uc003zac.1_Silent_p.L3214L|PLEC_uc003zad.2_Silent_p.L3210L|PLEC_uc003zae.1_Silent_p.L3178L|PLEC_uc003zag.1_Silent_p.L3188L|PLEC_uc003zah.2_Silent_p.L3196L|PLEC_uc003zaj.2_Silent_p.L3237L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3347	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGAGAGCGGCAGCAGGCTCA	0.682		NA											5	45					0	0	0	0
PARP10	84875	broad.mit.edu	37	8	145058522	145058522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145058522C>A	uc003zal.3	-	6	1644	c.1536G>T	c.(1534-1536)GTG>GTT	p.V512V	PARP10_uc003zak.3_Silent_p.V218V|PARP10_uc011lku.1_Silent_p.V524V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.V512V	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	512						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCACAACACATGGCAGC	0.637		NA											30	88					2.61e-14	3.47e-14	1	0
RECQL4	9401	broad.mit.edu	37	8	145738813	145738813	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145738813C>A	uc003zdj.2	-	14	2284	c.2252G>T	c.(2251-2253)CGG>CTG	p.R751L		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	751	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCGCCGTTCCCGGCTGCACAT	0.672		NA	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				16	30					4.97e-08	6.02e-08	1	0
C9orf93	203238	broad.mit.edu	37	9	15695323	15695323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:15695323C>A	uc003zmd.2	+	11	1621	c.1306C>A	c.(1306-1308)CAG>AAG	p.Q436K	C9orf93_uc010mih.1_Missense_Mutation_p.Q436K|C9orf93_uc003zme.2_Missense_Mutation_p.Q343K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q436K	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	436											0				GBM - Glioblastoma multiforme(50;4.84e-07)		TGTGTCGGGCCAGTGGACATC	0.413		NA											58	47					6.27e-30	9.2e-30	1	0
PGM5	5239	broad.mit.edu	37	9	71094402	71094402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:71094402C>T	uc004agr.2	+	8	1457	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.R410Q(1)		ovary(1)|pancreas(1)	2						TATTGCTGCCCGGAAGCAGAG	0.527		NA											43	250					0	0	0	0
TMEM2	23670	broad.mit.edu	37	9	74332976	74332976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:74332976C>A	uc011lsa.1	-	13	2827	c.2287G>T	c.(2287-2289)GCA>TCA	p.A763S	TMEM2_uc010mos.2_Missense_Mutation_p.A700S|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	763						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCGGGGTTTGCATCCTGATGA	0.348		NA											100	94					1.07e-64	1.64e-64	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325172	79325172	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:79325172G>T	uc010mpk.2	-	8	2142	c.2018C>A	c.(2017-2019)TCC>TAC	p.S673Y		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	673					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTGTTCACTGGAACTCCACGC	0.493		NA											72	57					2.85e-26	4.13e-26	1	0
FLJ46321	389763	broad.mit.edu	37	9	84607717	84607717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:84607717G>T	uc004amn.2	+	4	2379	c.2332G>T	c.(2332-2334)GAG>TAG	p.E778*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	778						integral to membrane					0						ATACAGCCAGGAGACTGTCCC	0.468		NA											28	156					6.07e-21	8.54e-21	1	0
DAPK1	1612	broad.mit.edu	37	9	90317991	90317991	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90317991G>T	uc004apc.2	+	25	3057	c.2919G>T	c.(2917-2919)CTG>CTT	p.L973L	DAPK1_uc004apd.2_Silent_p.L973L|DAPK1_uc011ltg.1_Silent_p.L907L|DAPK1_uc011lth.1_Silent_p.L710L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	973					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TCTCCACGCTGCCTTCCTGGA	0.597		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				33	127					1.22e-17	1.69e-17	1	0
FAM75C1	441452	broad.mit.edu	37	9	90535265	90535265	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90535265G>A	uc010mqi.2	+	4	472	c.443G>A	c.(442-444)CGG>CAG	p.R148Q	FAM75C1_uc004apq.3_Missense_Mutation_p.R131Q	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						GGAGCCTCCCGGTCCTCTCAT	0.587		NA											179	143					0	0	0	0
SHC3	53358	broad.mit.edu	37	9	91656972	91656972	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:91656972C>A	uc004aqg.2	-	10	1636	c.1329G>T	c.(1327-1329)GAG>GAT	p.E443D		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	443	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						TTGGGCTGCTCTCAGCACTGC	0.517		NA											26	140					1.08e-15	1.46e-15	1	0
ZNF484	83744	broad.mit.edu	37	9	95609023	95609023	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:95609023A>T	uc004asu.1	-	5	2195	c.2046T>A	c.(2044-2046)CAT>CAA	p.H682Q	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H684Q|ZNF484_uc010mrb.1_Missense_Mutation_p.H646Q|ZNF484_uc004asv.1_Missense_Mutation_p.H646Q	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	682	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGATTGCTGATGTATATGGA	0.398		NA											155	101					0	0	0	0
GALNT12	79695	broad.mit.edu	37	9	101608273	101608273	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:101608273G>A	uc004ayz.2	+	9	1473	c.1473G>A	c.(1471-1473)ACG>ACA	p.T491T		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	491	Ricin B-type lectin.|Lumenal (Potential).		T -> M (in CRCS1; germline mutation; loss of activity).			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TCGAGTACACGTCCCAGAAAG	0.473		NA											18	54					0	0	0	0
DBC1	1620	broad.mit.edu	37	9	122004402	122004402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:122004402C>T	uc004bkc.2	-	4	958	c.502G>A	c.(502-504)GCA>ACA	p.A168T	DBC1_uc004bkd.2_Missense_Mutation_p.A168T	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	168	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TAGGATGATGCGAGCTGGTGC	0.512		NA											28	189					0	0	0	0
CEL	1056	broad.mit.edu	37	9	135947074	135947074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:135947074G>T	uc010naa.1	+	11	2210	c.2194G>T	c.(2194-2196)GGT>TGT	p.G732C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	729	16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCCCCCACGGGTGACTCTGA	0.682		NA											15	82					2.32e-09	2.9e-09	1	0
DDX53	168400	broad.mit.edu	37	X	23019337	23019337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:23019337C>T	uc004daj.2	+	1	1251	c.1163C>T	c.(1162-1164)CCC>CTC	p.P388L		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	388	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						GAATTTGAACCCCAGATAAGG	0.403		NA											44	84					0	0	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157130	26157130	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:26157130C>A	uc004dbq.1	+	2	215	c.28C>A	c.(28-30)CGT>AGT	p.R10S		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	10							protein binding			central_nervous_system(1)	1						GAGTAAGCTCCGTGCCCGTGA	0.542		NA											8	8					5.49e-09	6.8e-09	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938141	29938141	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:29938141G>T	uc004dby.2	+	8	1495	c.987G>T	c.(985-987)TTG>TTT	p.L329F		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	329	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						AAGGTGACTTGGGAAATTACT	0.418		NA											48	38					1.62e-15	2.18e-15	1	0
NR0B1	190	broad.mit.edu	37	X	30326412	30326412	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:30326412G>T	uc004dcf.3	-	1	1084	c.1069C>A	c.(1069-1071)CAG>AAG	p.Q357K		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	357	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTTGGACCTGGGAGGCGGAG	0.637		NA									OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					2.71e-06	3.14e-06	1	0
ELK1	2002	broad.mit.edu	37	X	47497248	47497248	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:47497248C>A	uc004dik.3	-	5	1310	c.988G>T	c.(988-990)GGG>TGG	p.G330W	ELK1_uc010nhv.2_Missense_Mutation_p.G330W|ELK1_uc010nhw.2_Missense_Mutation_p.G220W|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	330					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GGTCCCGGCCCACCTAGCAGG	0.701		NA											3	2					0.004672	0.00490617	1	0
GSPT2	23708	broad.mit.edu	37	X	51488354	51488354	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51488354C>A	uc004dpl.2	+	1	1858	c.1632C>A	c.(1630-1632)CAC>CAA	p.H544Q		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	544					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					CGGTGCTGCACATTCATACTT	0.423		NA											47	47					2.02e-29	2.96e-29	1	0
KLF8	11279	broad.mit.edu	37	X	56296753	56296753	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:56296753A>T	uc004dur.2	+	5	1843	c.897A>T	c.(895-897)ACA>ACT	p.T299T	KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAATCCATACAGGTCTGCCCA	0.318		NA											9	6					0	0	0	0
CYLC1	1538	broad.mit.edu	37	X	83128538	83128538	+	Silent	SNP	G	G	A	rs148140928		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83128538G>A	uc004eei.1	+	4	843	c.822G>A	c.(820-822)AAG>AAA	p.K274K	CYLC1_uc004eeh.1_Silent_p.K273K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	274					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ATAATTCAAAGAATTATTCTT	0.318		NA											6	17					0	0	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351277	83351277	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83351277C>T	uc004eej.1	-	20	1973	c.1896G>A	c.(1894-1896)GAG>GAA	p.E632E	RPS6KA6_uc011mqt.1_Silent_p.E632E|RPS6KA6_uc011mqu.1_Silent_p.E529E	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	632	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						GCAGCAGTATCTCTTCAGGAG	0.358		NA											21	20					0	0	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011320	105011320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105011320G>T	uc004elz.1	+	11	2483	c.1727G>T	c.(1726-1728)GGA>GTA	p.G576V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	576	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GCAGAACAAGGACTTTTTGGA	0.438		NA											29	38					7.38e-10	9.29e-10	1	0
CXorf57	55086	broad.mit.edu	37	X	105855463	105855463	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105855463G>A	uc004emi.3	+	1	304	c.153G>A	c.(151-153)GAG>GAA	p.E51E	CXorf57_uc004emj.3_Silent_p.E51E|CXorf57_uc004emh.2_Silent_p.E51E	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	51										ovary(1)|lung(1)|breast(1)	3						AGGTTCTTGAGCAGATTATGG	0.607		NA											48	43					0	0	0	0
STAG2	10735	broad.mit.edu	37	X	123217393	123217393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:123217393G>A	uc004etz.3	+	28	3386	c.3047G>A	c.(3046-3048)AGA>AAA	p.R1016K	STAG2_uc004eua.2_Missense_Mutation_p.R1016K|STAG2_uc004eub.2_Missense_Mutation_p.R1016K|STAG2_uc004euc.2_Missense_Mutation_p.R1016K|STAG2_uc004eud.2_Missense_Mutation_p.R1016K|STAG2_uc004eue.2_Missense_Mutation_p.R1016K	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1016					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CAAGACAAAAGAACAGTGTAT	0.358		NA											25	30					0	0	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717166	142717166	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:142717166G>T	uc004fbx.2	-	2	2135	c.1759C>A	c.(1759-1761)CCG>ACG	p.P587T	SLITRK4_uc004fby.2_Missense_Mutation_p.P587T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	587	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGACGGCTTATTTAAA	0.453		NA											37	47					2.1e-21	2.96e-21	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905021	144905021	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:144905021C>G	uc004fcd.2	+	5	2068	c.1078C>G	c.(1078-1080)CAA>GAA	p.Q360E	SLITRK2_uc010nsp.2_Missense_Mutation_p.Q360E|SLITRK2_uc010nso.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwq.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mwr.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mws.1_Missense_Mutation_p.Q360E|SLITRK2_uc004fcg.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwt.1_Missense_Mutation_p.Q360E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	360	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAACTGCCAAGAAAGGAA	0.473		NA											31	22					0	0	0	0
PNMA3	29944	broad.mit.edu	37	X	152225666	152225666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:152225666A>G	uc004fhc.2	+	2	590	c.254A>G	c.(253-255)AAG>AGG	p.K85R	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0		NA											13	23					0	0	0	0
SPRY3	10251	broad.mit.edu	37	X	155004162	155004162	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155004162C>T	uc004fnq.1	+	2	1083	c.629C>T	c.(628-630)CCC>CTC	p.P210L	SPRY3_uc010nvl.1_Missense_Mutation_p.P111L	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	210	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGATGAGCCCTGCTCTTGT	0.562		NA											90	198					0	0	0	0
IL9R	3581	broad.mit.edu	37	X	155233355	155233355	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155233355G>A	uc004fnv.1	+	4	447	c.268G>A	c.(268-270)GGC>AGC	p.G90S	IL9R_uc010nvn.2_Missense_Mutation_p.G69S|IL9R_uc004fnu.1_Silent_p.L134L	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	90	Extracellular (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTCCTGGCGGCACACA	0.577		NA											7	18					0	0	0	0
KIAA0494	9813	broad.mit.edu	37	1	47154099	47154100	+	Frame_Shift_Ins	INS	-	-	CTGGGTAAGATTA			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:47154099_47154100insCTGGGTAAGATTA	uc001cqk.3	-	7	1889_1890	c.912_913insTAATCTTACCCAG	c.(910-915)CAGAGAfs	p.Q304fs	KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Frame_Shift_Ins_p.Q304fs	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	304_305							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGGTTGACTCTCTGGGTAAGAT	0.441		NA											19	331	---	---	---	---	NA	NA	NA	NA
DBT	1629	broad.mit.edu	37	1	100672035	100672035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:100672035delG	uc001dta.2	-	9	1208	c.1175delC	c.(1174-1176)ACAfs	p.T392fs	DBT_uc010oug.1_Frame_Shift_Del_p.T211fs	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	392					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTTCCTCCTGTAAGATCAGT	0.378		NA											77	398	---	---	---	---	NA	NA	NA	NA
COL11A1	1301	broad.mit.edu	37	1	103480115	103480115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103480115delG	uc001dul.2	-	13	1842	c.1524delC	c.(1522-1524)ACCfs	p.T508fs	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.T520fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.T469fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.T392fs	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	508	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGCAGAGATGGTTGGTCCTT	0.418		NA											60	105	---	---	---	---	NA	NA	NA	NA
C1orf114	57821	broad.mit.edu	37	1	169394069	169394069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:169394069delT	uc001gga.1	-	2	265	c.97delA	c.(97-99)AGTfs	p.S33fs	C1orf114_uc001gfz.1_Frame_Shift_Del_p.S33fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggb.2_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggc.1_Frame_Shift_Del_p.S33fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	33											0	all_hematologic(923;0.208)					CTGGCATCACTTTTTTCATTT	0.224		NA											53	125	---	---	---	---	NA	NA	NA	NA
RGS1	5996	broad.mit.edu	37	1	192547358	192547358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:192547358delA	uc001gsi.1	+	4	353	c.287delA	c.(286-288)CAAfs	p.Q96fs	RGS1_uc010pou.1_Frame_Shift_Del_p.Q96fs	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	96	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				TTAGCTGGTCAAAATGTCTTT	0.338		NA											123	254	---	---	---	---	NA	NA	NA	NA
CHRM3	1131	broad.mit.edu	37	1	240070839	240070839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240070839delC	uc001hyp.2	+	5	867	c.88delC	c.(88-90)CCCfs	p.P30fs		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	30	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCAGGGCTGCCCCCGGGAAC	0.542		NA											66	190	---	---	---	---	NA	NA	NA	NA
PPFIA2	8499	broad.mit.edu	37	12	81839439	81839439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81839439delC	uc001szo.1	-	6	627	c.466delG	c.(466-468)GTGfs	p.V156fs	PPFIA2_uc010sue.1_Frame_Shift_Del_p.V56fs|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	82										ovary(3)|lung(2)|pancreas(1)	6						CGTTTTACCACCGTCATTCTT	0.428		NA											27	45	---	---	---	---	NA	NA	NA	NA
RASGRF1	5923	broad.mit.edu	37	15	79292140	79292140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79292140delG	uc002beq.2	-	18	3114	c.2739delC	c.(2737-2739)GCCfs	p.A913fs	RASGRF1_uc002bep.2_Frame_Shift_Del_p.A897fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.A822fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.A897fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.A308fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.A129fs	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	915					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TGCCCTCGTTGGCCCCGGCGG	0.582		NA											30	187	---	---	---	---	NA	NA	NA	NA
MPP2	4355	broad.mit.edu	37	17	41959835	41959836	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:41959835_41959836delGC	uc010wip.1	-	6	689_690	c.632_633delGC	c.(631-633)CGCfs	p.R211fs	MPP2_uc002ien.1_Frame_Shift_Del_p.R183fs|MPP2_uc010wim.1_Frame_Shift_Del_p.R155fs|MPP2_uc002ieo.1_Frame_Shift_Del_p.R166fs|MPP2_uc010win.1_Frame_Shift_Del_p.R27fs|MPP2_uc010wio.1_Frame_Shift_Del_p.R155fs|MPP2_uc010czm.1_Frame_Shift_Del_p.R149fs	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	190	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CATGCAGAATGCGCGCGATCAC	0.609		NA											44	77	---	---	---	---	NA	NA	NA	NA
ZNF224	7767	broad.mit.edu	37	19	44610618	44610618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:44610618delA	uc002oyh.1	+	6	607	c.305delA	c.(304-306)CAAfs	p.Q102fs	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	102					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TCCTTCCAGCAAATCTGGGAA	0.418		NA											44	75	---	---	---	---	NA	NA	NA	NA
PEX13	5194	broad.mit.edu	37	2	61275876	61275876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:61275876delG	uc002sau.3	+	4	1266	c.1183delG	c.(1183-1185)GGGfs	p.G395fs		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	395	Cytoplasmic (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TGATTCCATTGGGAAAGATGG	0.358		NA											33	121	---	---	---	---	NA	NA	NA	NA
GAD1	2571	broad.mit.edu	37	2	171702239	171702240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:171702239_171702240insG	uc002ugi.2	+	9	1313_1314	c.891_892insG	c.(889-894)GCTGGGfs	p.A297fs		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	297_298					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAAGAAAGCTGGGGCTGCACT	0.426		NA											57	131	---	---	---	---	NA	NA	NA	NA
DSCAM	1826	broad.mit.edu	37	21	41516604	41516604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:41516604delG	uc002yyq.1	-	17	3525	c.3073delC	c.(3073-3075)CGAfs	p.R1025fs	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1025	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTCGGTAACCTATT	0.453		NA											39	82	---	---	---	---	NA	NA	NA	NA
RFC4	5984	broad.mit.edu	37	3	186512478	186512478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:186512478delC	uc003fqz.2	-	5	602	c.379delG	c.(379-381)GCTfs	p.A127fs	RFC4_uc011bsc.1_Frame_Shift_Del_p.A127fs|RFC4_uc011bsd.1_Frame_Shift_Del_p.A127fs	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	127					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTAATTGAGCAAAATTTTTC	0.348		NA											19	155	---	---	---	---	NA	NA	NA	NA
GABRG1	2565	broad.mit.edu	37	4	46060593	46060593	+	Frame_Shift_Del	DEL	G	G	-	rs139684526	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:46060593delG	uc003gxb.2	-	6	824	c.672delC	c.(670-672)TCCfs	p.S224fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	224	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCACTTCTACGGAGGGCTTTT	0.353		NA											30	62	---	---	---	---	NA	NA	NA	NA
OTUD4	54726	broad.mit.edu	37	4	146071685	146071685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:146071685delC	uc003ika.3	-	13	1182	c.1044delG	c.(1042-1044)CGGfs	p.R348fs	OTUD4_uc003ijz.3_Frame_Shift_Del_p.R347fs	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	412							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GTGAAGGTGTCCGGCTAAGAT	0.398		NA											20	241	---	---	---	---	NA	NA	NA	NA
PARK2	5071	broad.mit.edu	37	6	162683695	162683695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:162683695delC	uc003qtx.3	-	3	408	c.274delG	c.(274-276)GCGfs	p.A92fs	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Frame_Shift_Del_p.A92fs|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Frame_Shift_Del_p.A92fs	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	92			A -> V (in PARK2).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCCTCCCGCCGCGTTTCTG	0.582		NA											29	139	---	---	---	---	NA	NA	NA	NA
WRN	7486	broad.mit.edu	37	8	30958449	30958449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:30958449delC	uc003xio.3	+	18	2854	c.2066delC	c.(2065-2067)TCCfs	p.S689fs	WRN_uc010lvk.2_Frame_Shift_Del_p.S156fs	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	689	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTTGGGCTCCCTAAAGACA	0.433		NA	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				23	23	---	---	---	---	NA	NA	NA	NA
PREX2	80243	broad.mit.edu	37	8	69129909	69129909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:69129909delC	uc003xxv.1	+	38	4690	c.4663delC	c.(4663-4665)CCAfs	p.P1555fs		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1555					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CCACGGACTGCCACCTCGTTA	0.552		NA											19	82	---	---	---	---	NA	NA	NA	NA
FAM75C1	441452	broad.mit.edu	37	9	90536403	90536403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90536403delG	uc010mqi.2	+	4	1610	c.1581delG	c.(1579-1581)CTGfs	p.L527fs	FAM75C1_uc004apq.3_Frame_Shift_Del_p.L510fs	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						GGCAAATTCTGGGTGAGACCC	0.577		NA											62	62	---	---	---	---	NA	NA	NA	NA
UPF3B	65109	broad.mit.edu	37	X	118979179	118979180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:118979179_118979180insT	uc004erz.1	-	4	527_528	c.450_451insA	c.(448-453)AAAGTCfs	p.K150fs	UPF3B_uc004esa.1_Frame_Shift_Ins_p.K150fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	150_151	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						ATAGTCCCGACTTTGGTATCTC	0.342		NA											37	66	---	---	---	---	NA	NA	NA	NA
