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
TAS1R3	83756	broad.mit.edu	37	1	1269065	1269065	+	Missense_Mutation	SNP	C	C	T	rs149144084		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:1269065C>T	uc010nyk.1	+	6	1780	c.1780C>T	c.(1780-1782)CGG>TGG	p.R594W		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	594	Cytoplasmic (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)	CGTTCACCATCGGGACAGCCC	0.458		NA											4	22					0	0	0	0
SLC45A1	50651	broad.mit.edu	37	1	8386047	8386047	+	Missense_Mutation	SNP	C	C	A	rs144175783		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:8386047C>A	uc001apb.2	+	3	660	c.660C>A	c.(658-660)GAC>GAA	p.D220E		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	220					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGATGGACGTGTGCAGCC	0.657		NA											28	42					1.27e-14	1.61e-14	1	0
TCEB3	6924	broad.mit.edu	37	1	24077469	24077469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:24077469G>A	uc001bho.2	+	4	512	c.452G>A	c.(451-453)AGC>AAC	p.S151N		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	151					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGATCCTATAGCCCTGACCAC	0.552		NA											13	27					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39759235	39759235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:39759235G>A	uc010ois.1	+	19	2318	c.2113G>A	c.(2113-2115)GCA>ACA	p.A705T	MACF1_uc001cda.1_Missense_Mutation_p.A613T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	705					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGGAACTAGCATATGACTG	0.443		NA											12	51					0	0	0	0
KLF17	128209	broad.mit.edu	37	1	44596220	44596220	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:44596220C>G	uc001clp.2	+	3	1020	c.962C>G	c.(961-963)TCA>TGA	p.S321*		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	321	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GAAAGTTGTTCATGGTCTTTC	0.463		NA											3	76					0	0	0	0
FCRL1	115350	broad.mit.edu	37	1	157773638	157773638	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:157773638G>T	uc001frg.2	-	3	429	c.316C>A	c.(316-318)CAC>AAC	p.H106N	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.H106N|FCRL1_uc001fri.2_Missense_Mutation_p.H106N|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	106	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTCACTGTGCACATTTATC	0.522		NA											5	49					0.000602214	0.000642619	1	0
CD84	8832	broad.mit.edu	37	1	160523210	160523210	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:160523210G>A	uc001fwh.3	-	4	742	c.718C>T	c.(718-720)CTG>TTG	p.L240L	CD84_uc001fwf.3_Silent_p.L240L|CD84_uc001fwg.3_Silent_p.L240L|CD84_uc009wtn.2_Silent_p.L240L|CD84_uc001fwi.3_Silent_p.L126L|CD84_uc001fwj.2_Silent_p.L240L	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	240	Helical; (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468		NA											4	38					0	0	0	0
POGK	57645	broad.mit.edu	37	1	166818449	166818449	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:166818449T>C	uc001gdt.1	+	5	753	c.633T>C	c.(631-633)TAT>TAC	p.Y211Y	POGK_uc010ple.1_Silent_p.Y126Y|POGK_uc010plf.1_Silent_p.Y93Y	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	211					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TAGTGGAATATGCTGAGAGTA	0.527		NA											21	28					0	0	0	0
FAM129A	116496	broad.mit.edu	37	1	184764621	184764621	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:184764621G>A	uc001gra.2	-	14	2471	c.2277C>T	c.(2275-2277)CAC>CAT	p.H759H	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	759	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						AGTTGTCGGGGTGGATGGCAG	0.562		NA											70	159					0	0	0	0
NAV1	89796	broad.mit.edu	37	1	201618224	201618224	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:201618224A>G	uc001gwu.2	+	1	775	c.428A>G	c.(427-429)GAG>GGG	p.E143G		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	143					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TCCAAGTCGGAGCACTCGCTC	0.672		NA											5	10					0	0	0	0
LAMB3	3914	broad.mit.edu	37	1	209804074	209804074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:209804074C>T	uc001hhg.2	-	8	1219	c.829G>A	c.(829-831)GAT>AAT	p.D277N	LAMB3_uc009xco.2_Missense_Mutation_p.D277N|LAMB3_uc001hhh.2_Missense_Mutation_p.D277N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.D213N	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	277	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACACAGACATCGTGGACCTGG	0.562		NA											4	36					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215847915	215847915	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:215847915G>A	uc001hku.1	-	63	13725	c.13338C>T	c.(13336-13338)AAC>AAT	p.N4446N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4446	Fibronectin type-III 30.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGAGTCCATGTTCTCTGGCA	0.463		NA								HNSCC(13;0.011)			41	31					0	0	0	0
ZNF695	57116	broad.mit.edu	37	1	247162685	247162685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:247162685C>A	uc009xgu.2	-	3	369	c.224G>T	c.(223-225)TGG>TTG	p.W75L	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.W75L|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Missense_Mutation_p.W63L	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	75	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTCACGTTCCAGGGCTCTTT	0.468		NA											8	31					5.49e-09	6.53e-09	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24873384	24873384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24873384G>A	uc001isb.2	-	26	6321	c.5834C>T	c.(5833-5835)TCT>TTT	p.S1945F	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1944					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TGGGGTTTCAGACAGTTTATG	0.448		NA											41	99					0	0	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24955940	24955940	+	Splice_Site	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24955940T>A	uc001isb.2	-	4	731	c.244_splice	c.e4-1	p.D82_splice	ARHGAP21_uc009xkl.1_Splice_Site_p.D82_splice|ARHGAP21_uc001isc.1_Splice_Site_p.D82_splice|ARHGAP21_uc001isd.1_Splice_Site_p.D82_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TTCTTCATCCTACAAATGAAA	0.289		NA											3	13					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	rs149031179		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:48387849C>T	uc001jez.2	-	1	3143	c.3029G>A	c.(3028-3030)CGC>CAC	p.R1010H		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1010	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597		NA											4	116					0	0	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393603	49393603	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:49393603A>G	uc001jgi.2	-	18	2459	c.2352T>C	c.(2350-2352)CGT>CGC	p.R784R	FRMPD2_uc001jgh.2_Silent_p.R752R|FRMPD2_uc001jgj.2_Silent_p.R762R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TACCAAAACCACGATGTGGGT	0.507		NA											17	30					0	0	0	0
USP54	159195	broad.mit.edu	37	10	75335341	75335341	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:75335341A>T	uc001juo.2	-	1	93	c.76T>A	c.(76-78)TCC>ACC	p.S26T	USP54_uc001jup.2_Missense_Mutation_p.S26T|USP54_uc010qkl.1_Missense_Mutation_p.S26T	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	26					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GGGGCTATGGAGGTTGAGCTT	0.458		NA											22	37					0	0	0	0
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:12379876G>T	uc001mkg.1	+	9	2229	c.1938G>T	c.(1936-1938)GAG>GAT	p.E646D		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473		NA											31	94					5.46e-16	7.04e-16	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136107	40136107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:40136107G>T	uc001mxa.1	-	2	3700	c.1736C>A	c.(1735-1737)ACA>AAA	p.T579K	LRRC4C_uc001mxc.1_Missense_Mutation_p.T575K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T575K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T575K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	579					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCCATGGGTGTGTCTCCCGT	0.448		NA											31	73					1.56e-20	2.04e-20	1	0
OR8J1	219477	broad.mit.edu	37	11	56128169	56128169	+	Silent	SNP	C	C	T	rs141638344		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:56128169C>T	uc010rjh.1	+	1	447	c.447C>T	c.(445-447)TAC>TAT	p.Y149Y		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CCCTCACATACCTCTATGGCT	0.433		NA											28	45					0	0	0	0
PC	5091	broad.mit.edu	37	11	66617739	66617739	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:66617739G>T	uc001ojn.1	-	17	2719	c.2670C>A	c.(2668-2670)GTC>GTA	p.V890V	PC_uc001ojo.1_Silent_p.V890V|PC_uc001ojp.1_Silent_p.V890V|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	890					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTTCTTGACCTCCTTGA	0.597		NA											8	36					2.18e-05	2.43e-05	1	0
FOLH1B	219595	broad.mit.edu	37	11	89421766	89421766	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:89421766G>C	uc001pda.2	+	10	1149	c.623G>C	c.(622-624)GGA>GCA	p.G208A		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	208					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						AGCAAATTGGGATCTGGAAAT	0.333		NA											24	52					0	0	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923992	105923992	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:105923992C>A	uc001pja.2	-	4	2064	c.1424G>T	c.(1423-1425)TGC>TTC	p.C475F	KBTBD3_uc001pjb.2_Missense_Mutation_p.C475F|KBTBD3_uc009yxm.2_Missense_Mutation_p.C396F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	471	Kelch 4.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTAAAAAAGCAATCAAGTGA	0.358		NA											12	28					5.51e-06	6.2e-06	1	0
USP28	57646	broad.mit.edu	37	11	113711431	113711431	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:113711431G>A	uc001poh.2	-	5	456	c.423C>T	c.(421-423)CGC>CGT	p.R141R	USP28_uc010rwy.1_Silent_p.R16R|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.R141R|USP28_uc010rwz.1_Silent_p.R141R	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	141					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACTTCACAGCGTTTTCTCT	0.428		NA											17	36					0	0	0	0
CEP164	22897	broad.mit.edu	37	11	117280412	117280412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:117280412G>T	uc001prc.2	+	30	3974	c.3827G>T	c.(3826-3828)AGC>ATC	p.S1276I	CEP164_uc001prb.2_Missense_Mutation_p.S1271I|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.S701I	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1276					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCAGCTGAGCAGTGTCCTC	0.642		NA											52	100					1.54e-34	2.05e-34	1	0
SIAE	54414	broad.mit.edu	37	11	124519604	124519604	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:124519604G>T	uc001qan.2	-	5	746	c.633C>A	c.(631-633)ATC>ATA	p.I211I		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor	211						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGATCAGCCCGATGGGATACT	0.522		NA											34	84					1.37e-20	1.8e-20	1	0
FEZ1	9638	broad.mit.edu	37	11	125359582	125359582	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:125359582T>C	uc001qbx.2	-	2	244	c.92A>G	c.(91-93)TAT>TGT	p.Y31C	FEZ1_uc010sbc.1_Missense_Mutation_p.Y31C|FEZ1_uc001qby.1_Missense_Mutation_p.Y31C	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	31					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AGATGAACCATAGAAACACTG	0.532		NA											23	71					0	0	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781856	128781856	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:128781856G>A	uc001qet.2	+	2	1002	c.688G>A	c.(688-690)GTG>ATG	p.V230M	KCNJ5_uc009zck.2_Missense_Mutation_p.V230M|KCNJ5_uc001qew.2_Missense_Mutation_p.V230M	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	230	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTCCCACATCGTGGAGGCCTC	0.592		NA											16	65					0	0	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3763444	3763444	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:3763444T>A	uc001qmj.2	-	10	1552	c.980A>T	c.(979-981)CAG>CTG	p.Q327L	EFCAB4B_uc010sen.1_Missense_Mutation_p.Q327L|EFCAB4B_uc010seo.1_Missense_Mutation_p.Q327L|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	327	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGAGCATCCTGGAGCTCCCA	0.557		NA											17	34					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12337036	12337036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:12337036G>A	uc001rah.3	-	5	996	c.854C>T	c.(853-855)CCA>CTA	p.P285L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P285L	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	285	Extracellular (Potential).|EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				AATTCCACATGGATTTGTGGC	0.393		NA											10	38					0	0	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103494	15103494	+	Silent	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:15103494C>A	uc001rcq.1	-	2	257	c.153G>T	c.(151-153)ACG>ACT	p.T51T	ARHGDIB_uc001rcp.1_5'Flank	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	51					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						CTCCCAGCAGCGTTTTCTTGT	0.483		NA											21	85					1.11e-09	1.34e-09	1	0
MGST1	4257	broad.mit.edu	37	12	16516968	16516968	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:16516968A>G	uc001rdf.2	+	4	526	c.461A>G	c.(460-462)TAC>TGC	p.Y154C	MGST1_uc001rdg.2_Missense_Mutation_p.Y154C|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.Y154C|MGST1_uc001rdi.2_Missense_Mutation_p.Y154C	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	154	Lumenal (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGTAAATTGTACCTGTAAAGA	0.358		NA											14	29					0	0	0	0
KCNH3	23416	broad.mit.edu	37	12	49943928	49943928	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:49943928G>A	uc001ruh.1	+	10	1994	c.1734G>A	c.(1732-1734)CTG>CTA	p.L578L	KCNH3_uc010smj.1_Silent_p.L518L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	578	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AGGAGGTCCTGCAGCTGCCAC	0.701		NA											13	23					0	0	0	0
KRT77	374454	broad.mit.edu	37	12	53086203	53086203	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:53086203A>G	uc001saw.2	-	7	1456	c.1427_splice	c.e7+1	p.R476_splice	KRT77_uc009zmi.2_Splice_Site_p.R234_splice	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77							keratin filament	structural molecule activity			ovary(1)	1						TGCCAGACCCACCTGCTCTCC	0.592		NA											9	30					0	0	0	0
ITGA7	3679	broad.mit.edu	37	12	56089326	56089326	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56089326C>T	uc001shh.2	-	14	2215	c.1995G>A	c.(1993-1995)ACG>ACA	p.T665T	ITGA7_uc001shg.2_Silent_p.T661T|ITGA7_uc010sps.1_Silent_p.T568T|ITGA7_uc009znw.2_5'UTR|ITGA7_uc009znx.2_Silent_p.T542T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	705	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GTTGGAATTCCGTGTCGCTGA	0.597		NA											14	85					0	0	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827878	56827878	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56827878T>A	uc001slf.2	-	2	245	c.77A>T	c.(76-78)CAT>CTT	p.H26L	TIMELESS_uc001slg.2_Missense_Mutation_p.H26L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	26					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TGGTTCCTTATGGTAAGTGTC	0.438		NA											14	36					0	0	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774536	100774536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:100774536G>T	uc010svi.1	+	2	472	c.159G>T	c.(157-159)AGG>AGT	p.R53S	SLC17A8_uc009ztx.2_Missense_Mutation_p.R53S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	53	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						AAGAAGGAAGGCCGGTGCAGA	0.502		NA											17	128					2.94e-08	3.44e-08	1	0
ASCL1	429	broad.mit.edu	37	12	103352676	103352676	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:103352676T>C	uc001tjr.3	+	1	1225	c.654T>C	c.(652-654)TCT>TCC	p.S218S		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	218					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						ACGAGGGCTCTTACGACCCGC	0.627		NA											13	36					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110246113	110246113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:110246113C>A	uc001tpj.1	-	2	642	c.547G>T	c.(547-549)GAG>TAG	p.E183*	TRPV4_uc001tpg.1_Nonsense_Mutation_p.E149*|TRPV4_uc001tph.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpi.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpk.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpl.1_Nonsense_Mutation_p.E183*	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	183	Cytoplasmic (Potential).		E -> K (found in a patient with spondyloepiphyseal dysplasia Maroteaux type).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CGAAACTCCTCATCAGTTAGG	0.612		NA											6	24					2.01e-06	2.28e-06	1	0
MRPL52	122704	broad.mit.edu	37	14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:23299461C>T	uc001wgw.3	+	3	185	c.155C>T	c.(154-156)GCG>GTG	p.A52V	MRPL52_uc001wgx.3_Missense_Mutation_p.A51V|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Missense_Mutation_p.A52V	NM_178336	NP_848026	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52 isoform a	52					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602		NA											5	98					0	0	0	0
DACT1	51339	broad.mit.edu	37	14	59112773	59112773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:59112773A>G	uc001xdw.2	+	4	1596	c.1432A>G	c.(1432-1434)AGC>GGC	p.S478G	DACT1_uc010trv.1_Missense_Mutation_p.S197G|DACT1_uc001xdx.2_Missense_Mutation_p.S441G|DACT1_uc010trw.1_Missense_Mutation_p.S197G	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	478					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCTAAGGAAAGCGCTCAGCT	0.577		NA											100	47					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:24921169G>T	uc001ywo.2	+	1	629	c.155G>T	c.(154-156)CGC>CTC	p.R52L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	52					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)		GGCCTGTTCCGCCGGAACGCC	0.756		NA											6	21					0.00198382	0.00210348	1	0
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:33895352G>A	uc001zhi.2	+	18	2021	c.1951G>A	c.(1951-1953)GCG>ACG	p.A651T	RYR3_uc010bar.2_Missense_Mutation_p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527		NA											19	105					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54786889	54786889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:54786889C>T	uc002ack.2	+	18	5017	c.5017C>T	c.(5017-5019)CGT>TGT	p.R1673C		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1673	MHD1.				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)		TGAATATGTGCGTGAACTTCC	0.338		NA											6	104					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85405961	85405961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:85405961G>A	uc002ble.2	+	10	4998	c.4831G>A	c.(4831-4833)GAG>AAG	p.E1611K	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1611	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGGTAAGCGAGGAGCTCCG	0.597		NA											18	20					0	0	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857484	9857484	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:9857484C>A	uc002czo.3	-	13	4465	c.3917G>T	c.(3916-3918)AGG>ATG	p.R1306M	GRIN2A_uc010uym.1_Missense_Mutation_p.R1306M|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1306	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGGGAGGGCCTGCTAAGGTC	0.493		NA											39	101					6.24e-21	8.23e-21	1	0
NLRC5	84166	broad.mit.edu	37	16	57111883	57111883	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:57111883A>T	uc002ekk.1	+	43	5257	c.5032A>T	c.(5032-5034)ACA>TCA	p.T1678S	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.T220S|NLRC5_uc002ekr.1_Missense_Mutation_p.T565S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1678	LRR 22.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GGGGGATCCCACAGCCCTGGG	0.672		NA											7	30					0	0	0	0
CDH3	1001	broad.mit.edu	37	16	68716358	68716358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:68716358G>T	uc002ewf.2	+	9	2282	c.1150G>T	c.(1150-1152)GAG>TAG	p.E384*	CDH3_uc010vli.1_Nonsense_Mutation_p.E329*	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	384	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCACCCTGAGAGCAACCA	0.592		NA											19	52					3.62e-10	4.42e-10	1	0
ATP2C2	9914	broad.mit.edu	37	16	84438840	84438840	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:84438840A>G	uc002fhx.2	+	3	406	c.317A>G	c.(316-318)TAC>TGC	p.Y106C	ATP2C2_uc010chj.2_Missense_Mutation_p.Y106C|ATP2C2_uc002fhy.2_Missense_Mutation_p.Y123C|ATP2C2_uc002fhz.2_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	106	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TGGAAGAAATACCTGGATCAG	0.527		NA											6	28					0	0	0	0
MYH3	4621	broad.mit.edu	37	17	10555773	10555773	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:10555773G>A	uc002gmq.1	-	3	389	c.312C>T	c.(310-312)TAC>TAT	p.Y104Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	104	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						CCTTCAGGTTGTACAGCACGG	0.557		NA											28	23					0	0	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458334	42458334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:42458334G>T	uc002igt.1	-	13	1338	c.1306C>A	c.(1306-1308)CAG>AAG	p.Q436K	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	436	Extracellular (Potential).|FG-GAP 7.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCCAGGACCTGGGAGGGACGT	0.642		NA											30	66					3e-07	3.46e-07	1	0
KIF2B	84643	broad.mit.edu	37	17	51901024	51901024	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:51901024A>T	uc002iua.2	+	1	786	c.630A>T	c.(628-630)CAA>CAT	p.Q210H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AGCCCCCGCAAGAACATCGCA	0.537		NA											12	23					0	0	0	0
ABCA9	10350	broad.mit.edu	37	17	67031933	67031933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:67031933C>T	uc002jhu.2	-	7	953	c.810G>A	c.(808-810)TGG>TGA	p.W270*	ABCA9_uc010dez.2_Nonsense_Mutation_p.W270*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	270	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ACATCAAACCCCAGGAAAGCC	0.343		NA											10	14					0	0	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233901	2233901	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:2233901G>C	uc002lvf.1	-	6	469	c.388C>G	c.(388-390)CCC>GCC	p.P130A	SF3A2_uc002lvg.2_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J	130							protein binding				0				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)		TGTTCCAGGGGGTCCTGTGGG	0.692		NA											8	29					0	0	0	0
ZNF561	93134	broad.mit.edu	37	19	9721791	9721791	+	Silent	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721791T>A	uc002mlu.2	-	6	751	c.546A>T	c.(544-546)CCA>CCT	p.P182P	ZNF561_uc010dwu.2_Silent_p.P113P|ZNF561_uc010xkr.1_Silent_p.P46P	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	182	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGCAAGACCTGGAGTTAGAG	0.388		NA											11	42					0	0	0	0
ZNF561	93134	broad.mit.edu	37	19	9721793	9721793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721793G>A	uc002mlu.2	-	6	749	c.544C>T	c.(544-546)CCA>TCA	p.P182S	ZNF561_uc010dwu.2_Missense_Mutation_p.P113S|ZNF561_uc010xkr.1_Missense_Mutation_p.P46S	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	182	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCAAGACCTGGAGTTAGAGTA	0.388		NA											11	43					0	0	0	0
DCAF15	90379	broad.mit.edu	37	19	14069909	14069909	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:14069909G>A	uc002mxt.2	+	7	843	c.837G>A	c.(835-837)GCG>GCA	p.A279A	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	279										central_nervous_system(1)	1						GCCCCCTGGCGCCTGCCAGCC	0.657		NA											142	40					0	0	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003194	16003194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:16003194C>T	uc002nbs.1	-	5	500	c.450G>A	c.(448-450)ATG>ATA	p.M150I	CYP4F2_uc010xot.1_Missense_Mutation_p.M1I|CYP4F2_uc010xou.1_Missense_Mutation_p.M1I	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	150					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						CAGGCGTCAGCATCCGACGGT	0.562		NA											35	46					0	0	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726931	18726931	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:18726931G>T	uc002njy.3	+	4	642	c.555G>T	c.(553-555)GTG>GTT	p.V185V	TMEM59L_uc010ebu.1_Silent_p.V185V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	185						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						AAGTGGTGGTGTTTCAGGTGA	0.488		NA											39	52					1.76e-25	2.33e-25	1	0
ZNF536	9745	broad.mit.edu	37	19	30935385	30935385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:30935385G>C	uc002nsu.1	+	2	1054	c.916G>C	c.(916-918)GAC>CAC	p.D306H	ZNF536_uc010edd.1_Missense_Mutation_p.D306H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	306	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CACGTTGTGCGACTTCGCGGC	0.642		NA											44	67					0	0	0	0
FFAR3	2865	broad.mit.edu	37	19	35849960	35849960	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:35849960C>T	uc002nzd.2	+	2	243	c.168C>T	c.(166-168)AAC>AAT	p.N56N	FFAR3_uc010xsu.1_RNA	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	56	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCTGCTCAACCTGACCGCCT	0.667		NA											9	81					0	0	0	0
TMEM145	284339	broad.mit.edu	37	19	42820842	42820842	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:42820842C>T	uc002otk.1	+	10	808	c.756C>T	c.(754-756)CTC>CTT	p.L252L		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	252	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				CCAGCTTCCTCATCTTCCTGC	0.662		NA											5	57					0	0	0	0
LILRB1	10859	broad.mit.edu	37	19	55144499	55144499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:55144499C>A	uc002qgj.2	+	8	1331	c.991C>A	c.(991-993)CAG>AAG	p.Q331K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q331K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q331K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q331K|LILRB1_uc010erq.2_Missense_Mutation_p.Q331K|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	331	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCGGTGCAGCCGGGCCC	0.612		NA								HNSCC(37;0.09)			15	38					1.34e-09	1.61e-09	1	0
TTC15	51112	broad.mit.edu	37	2	3469400	3469400	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:3469400G>T	uc002qxm.1	+	9	1916	c.1710G>T	c.(1708-1710)TCG>TCT	p.S570S	TTC15_uc002qxn.1_Silent_p.S570S|TTC15_uc010ewm.1_Silent_p.S576S	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	570	TPR 1.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CGTATCATTCGGTTATCAAGT	0.532		NA											24	51					4.78e-09	5.7e-09	1	0
APOB	338	broad.mit.edu	37	2	21234136	21234136	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21234136G>T	uc002red.2	-	26	5732	c.5604C>A	c.(5602-5604)CTC>CTA	p.L1868L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1868					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTCTGTGTTGAGCCGATGGC	0.458		NA											29	83					3.74e-18	4.86e-18	1	0
APOB	338	broad.mit.edu	37	2	21255430	21255430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21255430A>G	uc002red.2	-	10	1276	c.1148T>C	c.(1147-1149)GTT>GCT	p.V383A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	383	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCACACTGAACCAAGGCTTG	0.502		NA											11	21					0	0	0	0
BRE	9577	broad.mit.edu	37	2	28117398	28117398	+	Splice_Site	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:28117398A>T	uc002rlr.2	+	3	295	c.-23_splice	c.e3-2		BRE_uc002rlp.1_Splice_Site|BRE_uc002rlq.2_Splice_Site|BRE_uc002rls.2_Splice_Site|BRE_uc002rlt.2_Splice_Site|BRE_uc002rlu.2_Splice_Site	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTCTGCTTTCAGTGGTGATTT	0.438		NA											44	107					0	0	0	0
POLR1A	25885	broad.mit.edu	37	2	86327213	86327213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:86327213C>T	uc002sqs.2	-	2	539	c.160G>A	c.(160-162)GCT>ACT	p.A54T	POLR1A_uc002sqv.2_Missense_Mutation_p.A54T	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	54					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GGGCCCAAAGCTAAATCGTAC	0.517		NA											14	30					0	0	0	0
FABP1	2168	broad.mit.edu	37	2	88427526	88427526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:88427526G>A	uc002sst.1	-	1	53	c.11C>T	c.(10-12)TCC>TTC	p.S4F	FABP1_uc002ssu.2_Missense_Mutation_p.S4F	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	4					organ morphogenesis						0						GTACTTGCCGGAGAAACTCAT	0.537		NA											31	51					0	0	0	0
AFF3	3899	broad.mit.edu	37	2	100203709	100203709	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:100203709T>C	uc002tag.2	-	15	2734	c.2498A>G	c.(2497-2499)AAG>AGG	p.K833R	AFF3_uc002taf.2_Missense_Mutation_p.K858R|AFF3_uc010fiq.1_Missense_Mutation_p.K833R|AFF3_uc010yvr.1_Missense_Mutation_p.K986R|AFF3_uc002tah.1_Missense_Mutation_p.K858R	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	833					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						CTGGGACTTCTTGATCTCCCT	0.463		NA											50	110					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284860	125284860	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:125284860A>G	uc002tno.2	+	10	1839	c.1475_splice	c.e10-2	p.G492_splice	CNTNAP5_uc010flu.2_Splice_Site_p.G493_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTCCCACAGGGTGCCCCG	0.453		NA											3	21					0	0	0	0
YSK4	80122	broad.mit.edu	37	2	135756434	135756434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:135756434T>A	uc002tue.1	-	5	479	c.448A>T	c.(448-450)AGG>TGG	p.R150W	YSK4_uc010fne.1_Missense_Mutation_p.R122W|YSK4_uc002tuf.1_Missense_Mutation_p.R150W|YSK4_uc010fnc.1_Missense_Mutation_p.R150W|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.R150W|YSK4_uc002tui.3_Missense_Mutation_p.R167W	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	150							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGAGCTCCCTGGAACTTTCC	0.428		NA											22	37					0	0	0	0
ABCA12	26154	broad.mit.edu	37	2	215840653	215840653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:215840653C>T	uc002vew.2	-	34	5457	c.5237G>A	c.(5236-5238)GGT>GAT	p.G1746D	ABCA12_uc002vev.2_Missense_Mutation_p.G1428D|ABCA12_uc010zjn.1_Missense_Mutation_p.G673D	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1746					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAATGAGACCTTTCCAGTT	0.498		NA											14	30					0	0	0	0
PLCD4	84812	broad.mit.edu	37	2	219494358	219494358	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:219494358T>C	uc002vij.1	+	8	1286	c.1091T>C	c.(1090-1092)GTG>GCG	p.V364A	PLCD4_uc002vik.1_3'UTR|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	364	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGATGTCGTGGCCACAGTA	0.592		NA											10	22					0	0	0	0
PCSK2	5126	broad.mit.edu	37	20	17446068	17446068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:17446068G>A	uc002wpm.2	+	11	1620	c.1300G>A	c.(1300-1302)GTC>ATC	p.V434I	PCSK2_uc002wpl.2_Missense_Mutation_p.V415I|PCSK2_uc010zrm.1_Missense_Mutation_p.V399I|PCSK2_uc002wpn.2_Missense_Mutation_p.V88I	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	434					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCGCAATGGGGTCGGCCTGGA	0.562		NA											16	25					0	0	0	0
CLTCL1	8218	broad.mit.edu	37	22	19195770	19195770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:19195770C>T	uc002zpb.2	-	22	3569	c.3494G>A	c.(3493-3495)CGT>CAT	p.R1165H	CLTCL1_uc011agv.1_Missense_Mutation_p.R1165H|CLTCL1_uc011agw.1_Missense_Mutation_p.R1165H|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.R125H|CLTCL1_uc002zpd.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1165	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATAGGACTCACGGCCCTTTTT	0.398		NA	T	?	ALCL								21	45					0	0	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061758	38061758	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:38061758G>T	uc003atj.1	+	17	2585	c.1698G>T	c.(1696-1698)ACG>ACT	p.T566T	PDXP_uc003atm.1_Silent_p.T257T			Q9Y3L3	3BP1_HUMAN	SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);	Error:Variant_position_missing_in_Q9Y3L3_after_alignment					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CTGTGCTCACGCTCACAGGAG	0.622		NA											24	76					8.25e-16	1.06e-15	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655440	46655440	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:46655440G>A	uc003bhh.2	-	1	3780	c.3780C>T	c.(3778-3780)ACC>ACT	p.T1260T		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1260	Cytoplasmic (Potential).|PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCACGTCGCTGGTACTCACAG	0.458		NA											28	56					0	0	0	0
TRANK1	9881	broad.mit.edu	37	3	36897366	36897366	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:36897366A>T	uc003cgj.2	-	3	2367	c.2065T>A	c.(2065-2067)TCA>ACA	p.S689T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1239					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GGAATGGTTGACTCTTCCTGT	0.473		NA											46	43					0	0	0	0
HYAL1	3373	broad.mit.edu	37	3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:50338477G>A	uc003czp.2	-	3	1064	c.932C>T	c.(931-933)GCG>GTG	p.A311V	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.A129V|HYAL1_uc003czo.2_Missense_Mutation_p.A52V|HYAL1_uc003czq.2_Intron|HYAL1_uc003czr.2_Missense_Mutation_p.A311V|HYAL1_uc003czn.2_5'UTR|HYAL1_uc003czs.2_Missense_Mutation_p.A311V|HYAL1_uc003czt.2_Missense_Mutation_p.A311V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	311						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CCCCTGGGCCGCACTCTCCCC	0.627		NA											3	26					0	0	0	0
SAMD7	344658	broad.mit.edu	37	3	169642876	169642876	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:169642876A>T	uc003fgd.2	+	5	509	c.242A>T	c.(241-243)AAG>ATG	p.K81M	SAMD7_uc003fge.2_Missense_Mutation_p.K81M|SAMD7_uc011bpo.1_Translation_Start_Site	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	81										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAATCCATAAAGGCAGTGGCC	0.343		NA											5	66					0	0	0	0
TNIK	23043	broad.mit.edu	37	3	170819325	170819325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:170819325T>C	uc003fhh.2	-	22	2849	c.2504A>G	c.(2503-2505)GAG>GGG	p.E835G	TNIK_uc003fhi.2_Missense_Mutation_p.E780G|TNIK_uc003fhj.2_Missense_Mutation_p.E806G|TNIK_uc003fhk.2_Missense_Mutation_p.E827G|TNIK_uc003fhl.2_Missense_Mutation_p.E751G|TNIK_uc003fhm.2_Missense_Mutation_p.E772G|TNIK_uc003fhn.2_Missense_Mutation_p.E798G|TNIK_uc003fho.2_Missense_Mutation_p.E743G|TNIK_uc003fhg.2_Missense_Mutation_p.E13G	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	835	Mediates interaction with NEDD4.				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)			ACTTTCTGACTCCTCACTGGA	0.493		NA											128	144					0	0	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6082004	6082004	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:6082004C>T	uc003giu.3	-	7	1413	c.1137G>A	c.(1135-1137)CGG>CGA	p.R379R	JAKMIP1_uc010idb.1_Silent_p.R379R|JAKMIP1_uc010idc.1_Silent_p.R214R|JAKMIP1_uc010idd.1_Silent_p.R379R|JAKMIP1_uc011bwc.1_Silent_p.R214R|JAKMIP1_uc003giv.3_Silent_p.R379R|JAKMIP1_uc010ide.2_Silent_p.R379R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	379	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AGGAGGTATGCCGCTTCAGAG	0.572		NA											3	42					0	0	0	0
TERT	7015	broad.mit.edu	37	5	1268652	1268652	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:1268652C>T	uc003jcb.1	-	9	2623	c.2565G>A	c.(2563-2565)GCG>GCA	p.A855A	TERT_uc003jbz.1_Silent_p.A51A|TERT_uc003jca.1_Silent_p.A843A|TERT_uc003jcc.1_Silent_p.A855A|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	855	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCGAATCCCCGCAAACAGCT	0.602		NA							TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				5	43					0	0	0	0
CDH9	1007	broad.mit.edu	37	5	26885961	26885961	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:26885961T>C	uc003jgs.1	-	11	1813	c.1644A>G	c.(1642-1644)GGA>GGG	p.G548G	CDH9_uc011cnv.1_Silent_p.G141G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	548	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GAGTCATGATTCCTGCTGTAT	0.328		NA											3	82					0	0	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637800	33637800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:33637800C>A	uc003jia.1	-	12	1933	c.1770G>T	c.(1768-1770)TTG>TTT	p.L590F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L590F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	590	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGACGTTGCACAAGCGATAGC	0.468		NA								HNSCC(64;0.19)			20	48					4.35e-09	5.21e-09	1	0
HSPB3	8988	broad.mit.edu	37	5	53751689	53751689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:53751689G>A	uc003jph.1	+	1	245	c.70G>A	c.(70-72)GGT>AGT	p.G24S		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	24					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				TGAAGCTCGAGGTCTAGAAGA	0.507		NA											8	91					0	0	0	0
PDE8B	8622	broad.mit.edu	37	5	76624877	76624877	+	Silent	SNP	G	G	T	rs142671242		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:76624877G>T	uc003kfa.2	+	4	690	c.645G>T	c.(643-645)TCG>TCT	p.S215S	PDE8B_uc003kfb.2_Silent_p.S195S|PDE8B_uc003kfc.2_Silent_p.S215S|PDE8B_uc003kfd.2_Silent_p.S215S|PDE8B_uc003kfe.2_Silent_p.S215S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	215					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CAGTGGTTTCGCGAGTGTAAG	0.488		NA											14	12					9.05e-12	1.13e-11	1	0
GDF9	2661	broad.mit.edu	37	5	132197721	132197721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:132197721C>T	uc003kxz.1	-	2	1177	c.925G>A	c.(925-927)GAT>AAT	p.D309N	GDF9_uc011cxj.1_Missense_Mutation_p.D221N	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	309					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCTCCCATCCTCAGCAGCC	0.522		NA											14	35					0	0	0	0
SEC24A	10802	broad.mit.edu	37	5	134033663	134033663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:134033663G>A	uc003kzs.2	+	15	2470	c.2182G>A	c.(2182-2184)GTA>ATA	p.V728I	SEC24A_uc011cxu.1_Missense_Mutation_p.V492I	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTCCAAGTACAGAAATT	0.413		NA											4	136					0	0	0	0
RANBP9	10048	broad.mit.edu	37	6	13642754	13642754	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:13642754G>A	uc003nbb.2	-	7	1241	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	RANBP9_uc003nba.2_Silent_p.D53D	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	394	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAACGGTCTGGTCTGTAGATC	0.373		NA											15	38					0	0	0	0
NUP153	9972	broad.mit.edu	37	6	17649453	17649453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:17649453G>A	uc003ncd.1	-	12	1674	c.1474C>T	c.(1474-1476)CCT>TCT	p.P492S	NUP153_uc011dje.1_Missense_Mutation_p.P523S|NUP153_uc010jpl.1_Missense_Mutation_p.P492S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	492					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGATCTCAGGGGAACTAAAA	0.373		NA											21	53					0	0	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423586	33423586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:33423586C>T	uc003oeq.2	+	2	977	c.709C>T	c.(709-711)CCC>TCC	p.P237S		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	237	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GACTCCTCAGCCCCAGAGAGT	0.453		NA											22	29					0	0	0	0
TCTE1	202500	broad.mit.edu	37	6	44247986	44247986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:44247986G>A	uc003oxi.2	-	5	1594	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	480										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCAGGGCCCGCTGGCGGGCT	0.577		NA											6	62					0	0	0	0
BAI3	577	broad.mit.edu	37	6	70071099	70071099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:70071099C>T	uc003pev.3	+	29	4382	c.3934C>T	c.(3934-3936)CCC>TCC	p.P1312S	BAI3_uc010kak.2_Missense_Mutation_p.P1312S|BAI3_uc011dxx.1_Missense_Mutation_p.P518S	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312	Cytoplasmic (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)				TATTGTGATGCCCAGAAGTTC	0.398		NA											10	36					0	0	0	0
RIMS1	22999	broad.mit.edu	37	6	72960961	72960961	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:72960961A>T	uc003pga.2	+	15	2665	c.2588A>T	c.(2587-2589)CAT>CTT	p.H863L	RIMS1_uc011dyb.1_Missense_Mutation_p.H489L|RIMS1_uc003pgc.2_Missense_Mutation_p.H489L|RIMS1_uc010kaq.2_Missense_Mutation_p.H337L|RIMS1_uc011dyc.1_Missense_Mutation_p.H337L|RIMS1_uc010kar.2_Missense_Mutation_p.H256L|RIMS1_uc011dyd.1_Missense_Mutation_p.H322L|RIMS1_uc003pgf.2_Missense_Mutation_p.H80L|RIMS1_uc003pgg.2_Missense_Mutation_p.H80L|RIMS1_uc003pgi.2_Missense_Mutation_p.H80L|RIMS1_uc003pgh.2_Missense_Mutation_p.H80L|RIMS1_uc003pgd.2_Missense_Mutation_p.H80L|RIMS1_uc003pge.2_Missense_Mutation_p.H80L|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.H489L|RIMS1_uc010kas.1_Missense_Mutation_p.H322L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	863					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGAACCGCATTGGTATAAA	0.393		NA											4	7					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152554995	152554995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:152554995C>A	uc010kiw.2	-	112	21235	c.20633G>T	c.(20632-20634)CGC>CTC	p.R6878L	SYNE1_uc010kiv.2_Missense_Mutation_p.R1402L|SYNE1_uc003qos.3_Missense_Mutation_p.R1402L|SYNE1_uc003qot.3_Missense_Mutation_p.R6807L|SYNE1_uc003qou.3_Missense_Mutation_p.R6878L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6878	Spectrin 21.|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)		CAGCTCAGAGCGCAGCGTGGC	0.498		NA								HNSCC(10;0.0054)			17	34					9.17e-09	1.09e-08	1	0
LPA	4018	broad.mit.edu	37	6	160969605	160969605	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:160969605T>A	uc003qtl.2	-	32	5180	c.5060A>T	c.(5059-5061)TAC>TTC	p.Y1687F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4195	Kringle 37.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGGTTGCAGTACTCCCACCT	0.537		NA											20	48					0	0	0	0
CYP2W1	54905	broad.mit.edu	37	7	1027134	1027134	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:1027134C>G	uc003sjq.1	+	7	1123	c.1110C>G	c.(1108-1110)GCC>GCG	p.A370A	CYP2W1_uc003sjr.1_Silent_p.A370A	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	370					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCACCGCGGCCGACACACAGC	0.711		NA											3	1					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38433623	38433623	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38433623G>T	uc003tgu.2	-	18	1659	c.1590C>A	c.(1588-1590)CTC>CTA	p.L530L	AMPH_uc003tgv.2_Silent_p.L488L|AMPH_uc003tgt.2_Silent_p.L415L|AMPH_uc003tgw.1_Silent_p.L553L|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	530					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CTGTTGCTTCGAGCTCCTCTG	0.562		NA											40	61					1.59e-14	2.02e-14	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963462	88963462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:88963462C>T	uc011khi.1	+	4	1704	c.1166C>T	c.(1165-1167)TCA>TTA	p.S389L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	389						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGTTTTCATCACTGGAGCCA	0.393		NA								HNSCC(36;0.09)			10	44					0	0	0	0
SERPINE1	5054	broad.mit.edu	37	7	100778862	100778862	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:100778862C>T	uc003uxt.2	+	6	1135	c.987C>T	c.(985-987)TTC>TTT	p.F329F	SERPINE1_uc011kkj.1_Silent_p.F314F|SERPINE1_uc003uxu.1_3'UTR	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	329					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGACTTCACGAGTCTTT	0.527		NA											33	68					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61655163	61655163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:61655163C>T	uc003xue.2	+	2	1649	c.1172C>T	c.(1171-1173)GCC>GTC	p.A391V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	391	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAACTTATGCCTCTCCACCT	0.522		NA											19	49					0	0	0	0
XKR9	389668	broad.mit.edu	37	8	71619348	71619348	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:71619348C>G	uc003xyq.2	+	4	987	c.453C>G	c.(451-453)CTC>CTG	p.L151L	XKR9_uc010lze.2_Silent_p.L151L|XKR9_uc010lzd.2_Silent_p.L19L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	151						integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTCTTCAACTCTACATTCTTC	0.393		NA											3	70					0	0	0	0
TERF1	7013	broad.mit.edu	37	8	73942569	73942569	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:73942569A>G	uc003xzd.2	+	7	913	c.888_splice	c.e7-2	p.S296_splice	TERF1_uc003xze.2_Intron	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1						age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			CTTCTTTTAAAGTGTTAGTGA	0.299		NA											4	18					0	0	0	0
NCALD	83988	broad.mit.edu	37	8	102731518	102731518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:102731518C>A	uc003yke.2	-	2	709	c.340G>T	c.(340-342)GGC>TGC	p.G114C	NCALD_uc003ykf.2_Missense_Mutation_p.G114C|NCALD_uc003ykg.2_Missense_Mutation_p.G114C|NCALD_uc003ykh.2_Missense_Mutation_p.G114C|NCALD_uc003yki.2_Missense_Mutation_p.G114C|NCALD_uc003ykj.2_Missense_Mutation_p.G114C|NCALD_uc003ykk.2_Missense_Mutation_p.G114C|NCALD_uc003ykl.2_Missense_Mutation_p.G114C	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	114	EF-hand 3.|2 (Potential).				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGATATAGCCATTTCCGTCC	0.468		NA											41	80					9.63e-15	1.23e-14	1	0
NOV	4856	broad.mit.edu	37	8	120435311	120435311	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:120435311C>A	uc003yoq.2	+	5	1234	c.1013C>A	c.(1012-1014)CCT>CAT	p.P338H		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	338	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCAACTGTCCTAAGAACAAT	0.507		NA											52	117					2.48e-18	3.24e-18	1	0
APBA1	320	broad.mit.edu	37	9	72071296	72071296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:72071296C>T	uc004ahh.2	-	8	1931	c.1655G>A	c.(1654-1656)GGG>GAG	p.G552E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	552	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AACGATGTTCCCAATGTCCGC	0.577		NA											170	269					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84605871	84605871	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:84605871G>A	uc004amn.2	+	4	533	c.486G>A	c.(484-486)TCG>TCA	p.S162S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	162						integral to membrane					0						TGGCTTCTTCGGCTTCTGCGA	0.562		NA											6	83					0	0	0	0
HABP4	22927	broad.mit.edu	37	9	99227713	99227713	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:99227713A>G	uc010msg.2	+	3	755	c.607A>G	c.(607-609)AGA>GGA	p.R203G	HABP4_uc010msh.2_Intron	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	203					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCCTGGGAACAGAGTTTTTGA	0.478		NA											63	96					0	0	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335733	104335733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:104335733C>T	uc004bbp.1	-	9	3672	c.3071G>A	c.(3070-3072)CGA>CAA	p.R1024Q	GRIN3A_uc004bbo.1_Missense_Mutation_p.R99Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1024	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTATTTCCGTCGGTTGTCATG	0.483		NA											66	99					0	0	0	0
ZFP37	7539	broad.mit.edu	37	9	115805240	115805240	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:115805240G>T	uc004bgm.1	-	4	1686	c.1658C>A	c.(1657-1659)GCC>GAC	p.A553D	ZFP37_uc011lwz.1_Missense_Mutation_p.A568D|ZFP37_uc011lxa.1_Missense_Mutation_p.A554D	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	553	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TTGGCTAAAGGCTTTCCCACA	0.383		NA											22	92					1.5e-11	1.86e-11	1	0
MEGF9	1955	broad.mit.edu	37	9	123384920	123384920	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384920C>A	uc004bkj.1	-	5	1028	c.1028G>T	c.(1027-1029)CGG>CTG	p.R343L	MEGF9_uc011lyb.1_Missense_Mutation_p.R298L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Extracellular (Potential).|Laminin EGF-like 3.					integral to membrane	calcium ion binding				0						ACTGGCAGACCGATTATTGCA	0.423		NA											12	29					3.41e-10	4.18e-10	1	0
MEGF9	1955	broad.mit.edu	37	9	123384926	123384926	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384926T>G	uc004bkj.1	-	5	1022	c.1022A>C	c.(1021-1023)AAT>ACT	p.N341T	MEGF9_uc011lyb.1_Missense_Mutation_p.N296T	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	304	Extracellular (Potential).|Laminin EGF-like 3.					integral to membrane	calcium ion binding				0						AGACCGATTATTGCATTGGCA	0.423		NA											12	28					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418287	139418287	+	Silent	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418287C>A	uc004chz.2	-	3	285	c.285G>T	c.(283-285)GGG>GGT	p.G95G		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	95	Extracellular (Potential).|EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGAGGGGCCCAGAGAAGC	0.672		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			10	19					3.86e-05	4.26e-05	1	0
MAN1B1	11253	broad.mit.edu	37	9	139981560	139981560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139981560A>G	uc004cld.2	+	1	144	c.109A>G	c.(109-111)ATG>GTG	p.M37V	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.M37V|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	37	Cytoplasmic (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CACTGTAGTCATGTACCCACC	0.662		NA											7	9					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34149650	34149650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:34149650G>T	uc004ddg.2	-	1	779	c.746C>A	c.(745-747)CCG>CAG	p.P249Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	249	Pro-rich.									ovary(4)|central_nervous_system(1)	5						GGGAGGCCCCGGGCGGATATG	0.632		NA											12	11					2.27e-07	2.62e-07	1	0
ATRX	546	broad.mit.edu	37	X	76875969	76875969	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:76875969A>G	uc004ecp.3	-	20	5398	c.5166T>C	c.(5164-5166)CAT>CAC	p.H1722H	ATRX_uc004ecq.3_Silent_p.H1684H|ATRX_uc004eco.3_Silent_p.H1507H	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1722	Helicase ATP-binding.|DEGH box.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTTTAGAATATGGCCTTCAT	0.294		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						15	3					0	0	0	0
ATP7A	538	broad.mit.edu	37	X	77301812	77301812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:77301812G>C	uc004ecx.3	+	23	4408	c.4248G>C	c.(4246-4248)GAG>GAC	p.E1416D		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1416	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						CAACTTACGAGAGTTATGAAC	0.408		NA											7	80					0	0	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008503	88008503	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:88008503G>C	uc004efd.3	+	3	347	c.88G>C	c.(88-90)GAC>CAC	p.D30H	CPXCR1_uc004efc.3_Missense_Mutation_p.D30H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	30						intracellular	zinc ion binding			ovary(3)	3						CTGTAGTACAGACATAGAGTC	0.428		NA											14	1					0	0	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819677	50819677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:50819677delG	uc001jhw.2	+	1	1331	c.891delG	c.(889-891)GCGfs	p.A297fs	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	297	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						TGGCCGGCGCGCTCACCACCT	0.642		NA											23	58	---	---	---	---	NA	NA	NA	NA
STK33	65975	broad.mit.edu	37	11	8474394	8474394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:8474394delG	uc001mgi.1	-	7	1765	c.846delC	c.(844-846)GCCfs	p.A282fs	STK33_uc001mgj.1_Frame_Shift_Del_p.A282fs|STK33_uc001mgk.1_Frame_Shift_Del_p.A282fs|STK33_uc010rbn.1_Frame_Shift_Del_p.A241fs|STK33_uc001mgl.3_Frame_Shift_Del_p.A95fs|STK33_uc009yfp.2_Frame_Shift_Del_p.A4fs	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	282	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCCACATGTGGCCTGCAGCA	0.328		NA											49	98	---	---	---	---	NA	NA	NA	NA
KIAA0430	9665	broad.mit.edu	37	16	15729832	15729832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:15729832delC	uc002ddr.2	-	3	705	c.512delG	c.(511-513)GGCfs	p.G171fs	KIAA0430_uc002ddq.2_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzv.1_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzw.1_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzx.1_Frame_Shift_Del_p.G170fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	170						peroxisome	nucleotide binding|RNA binding				0						ACTTGCAATGCCTGCCAAATT	0.498		NA											60	110	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7576896	7576897	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:7576896_7576897insG	uc002gim.2	-	9	1143_1144	c.949_950insC	c.(949-951)CAGfs	p.Q317fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.Q317fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cng.1_Frame_Shift_Ins_p.Q185fs|TP53_uc002gii.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.Q317fs|TP53_uc010cni.1_Frame_Shift_Ins_p.Q317fs|TP53_uc002gij.2_Frame_Shift_Ins_p.Q317fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	317	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(19)|p.0?(7)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)|p.Q317fs*19(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)		CTTCTTTGGCTGGGGAGAGGAG	0.47		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)			17	34	---	---	---	---	NA	NA	NA	NA
ASXL1	171023	broad.mit.edu	37	20	31022483	31022483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:31022483delT	uc002wxs.2	+	12	2394	c.1968delT	c.(1966-1968)GATfs	p.D656fs	ASXL1_uc010geb.2_Frame_Shift_Del_p.D547fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	656	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GGGCCACCGATGAGGGAGGTG	0.701		NA	F|N|Mis		MDS|CMML								10	9	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187629538	187629538	+	Frame_Shift_Del	DEL	C	C	-	rs3733413	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:187629538delC	uc003izf.2	-	2	1632	c.1444delG	c.(1444-1446)GTCfs	p.V482fs	FAT1_uc010iso.1_Frame_Shift_Del_p.V482fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	482	Extracellular (Potential).|Cadherin 4.			V -> I (in Ref. 1; CAA60685).	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGGCTCATGACAGTAGTACCA	0.468		NA								HNSCC(5;0.00058)			38	48	---	---	---	---	NA	NA	NA	NA
MAGEC1	9947	broad.mit.edu	37	X	140994291	140994291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:140994291delT	uc004fbt.2	+	4	1387	c.1101delT	c.(1099-1101)GGTfs	p.G367fs	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	367							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTGAGGGTTTTCCCCAGT	0.478		NA								HNSCC(15;0.026)			104	45	---	---	---	---	NA	NA	NA	NA