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
CDC42	998	broad.mit.edu	37	1	22413014	22413014	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:22413014A>G	uc001bfq.2	+	5	553	c.261A>G	c.(259-261)CCA>CCG	p.P87P	CDC42_uc009vqg.1_Silent_p.P87P|CDC42_uc001bfp.2_Silent_p.P87P|CDC42_uc001bfr.2_Silent_p.P87P|CDC42_uc010odr.1_Silent_p.P132P|CDC42_uc010ods.1_Silent_p.P129P|CDC42_uc009vqh.2_Silent_p.P46P	NM_001039802	NP_001034891	P60953	CDC42_HUMAN	cell division cycle 42 isoform 1	87					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			haematopoietic_and_lymphoid_tissue(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGGTCTCTCCATCTTCATTTG	0.358		NA											29	33					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34033207	34033207	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:34033207G>T	uc001bxn.1	-	54	8326	c.8297C>A	c.(8296-8298)ACC>AAC	p.T2766N	CSMD2_uc001bxm.1_Missense_Mutation_p.T2789N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2766	Sushi 18.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGAAAGGGGTCTTGCCCGA	0.527		NA											10	32					4.69e-08	5.29e-08	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52810541	52810541	+	Silent	SNP	C	C	G	rs145347233		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:52810541C>G	uc001cto.2	+	18	4213	c.4041C>G	c.(4039-4041)CTC>CTG	p.L1347L	ZFYVE9_uc001ctp.2_Silent_p.L1288L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1347					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GCCTTGCTCTCTGTCCTCACC	0.453		NA											33	70					0	0	0	0
SGIP1	84251	broad.mit.edu	37	1	67147692	67147692	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:67147692T>A	uc001dcr.2	+	15	1172	c.955T>A	c.(955-957)TCC>ACC	p.S319T	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.S86T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						TTCTGATACATCCCCGGAACA	0.507		NA											33	74					0	0	0	0
ZNF326	284695	broad.mit.edu	37	1	90484343	90484343	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:90484343G>T	uc001dnq.2	+	9	1313	c.1174G>T	c.(1174-1176)GGT>TGT	p.G392C	ZNF326_uc009wda.1_Missense_Mutation_p.G303C|ZNF326_uc001dnr.2_Missense_Mutation_p.G186C	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTATGGAAGGTAAGTATTT	0.254		NA											6	24					5.94e-07	6.61e-07	1	0
USH2A	7399	broad.mit.edu	37	1	216258090	216258090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:216258090C>T	uc001hku.1	-	25	5504	c.5117G>A	c.(5116-5118)TGG>TAG	p.W1706*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1706	Laminin G-like 1.|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)		ACATCCCTCCCAGCTGTTATA	0.408		NA								HNSCC(13;0.011)			8	57					0	0	0	0
DISP1	84976	broad.mit.edu	37	1	223178344	223178344	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:223178344G>C	uc001hnu.1	+	8	3752	c.3605G>C	c.(3604-3606)TGC>TCC	p.C1202S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1202					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCCCACAGCTGCACTGCCCCT	0.443		NA											8	43					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243388581	243388581	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:243388581A>G	uc001hzs.2	-	2	410	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CEP170_uc001hzt.2_Missense_Mutation_p.M1T|CEP170_uc001hzu.2_Missense_Mutation_p.M1T	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTAAGCTCATTTTCTGCTT	0.413		NA											3	10					0	0	0	0
OR2T11	127077	broad.mit.edu	37	1	248790244	248790244	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790244C>T	uc001ier.1	-	1	186	c.186G>A	c.(184-186)CAG>CAA	p.Q62Q		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGACAGCTGACTGAGCA	0.483		NA											12	32					0	0	0	0
NDST2	8509	broad.mit.edu	37	10	75567374	75567374	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:75567374C>T	uc001jvk.2	-	3	1577	c.773G>A	c.(772-774)CGT>CAT	p.R258H	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.R135H|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.R135H	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	258	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					CCGGGCCCGACGAAGAACTGG	0.562		NA											11	27					0	0	0	0
MYST4	23522	broad.mit.edu	37	10	76780360	76780360	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:76780360G>C	uc001jwn.1	+	14	3143	c.2650G>C	c.(2650-2652)GAA>CAA	p.E884Q	MYST4_uc001jwm.1_Missense_Mutation_p.E592Q|MYST4_uc001jwo.1_Missense_Mutation_p.E592Q|MYST4_uc001jwp.1_Missense_Mutation_p.E701Q	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	884	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TTCTAGAAGAGAAGGCCAAGC	0.478		NA	T	CREBBP	AML								15	25					0	0	0	0
TDRD1	56165	broad.mit.edu	37	10	115973760	115973760	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:115973760T>C	uc001lbg.1	+	16	2252	c.2099T>C	c.(2098-2100)GTA>GCA	p.V700A	TDRD1_uc001lbf.2_Missense_Mutation_p.V634A|TDRD1_uc001lbh.1_Missense_Mutation_p.V691A|TDRD1_uc001lbi.1_Missense_Mutation_p.V691A|TDRD1_uc010qsc.1_Missense_Mutation_p.V304A|TDRD1_uc001lbj.2_Missense_Mutation_p.V409A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	700					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGGAAAAGTAAATCCATTG	0.443		NA											12	39					0	0	0	0
OR52E4	390081	broad.mit.edu	37	11	5905534	5905534	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:5905534C>G	uc010qzs.1	+	1	12	c.12C>G	c.(10-12)ATC>ATG	p.I4M	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTCTATCAATGACACCC	0.428		NA											19	77					0	0	0	0
OR52L1	338751	broad.mit.edu	37	11	6008146	6008146	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:6008146A>G	uc001mcd.2	-	1	70	c.15T>C	c.(13-15)TCT>TCC	p.S5S		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGAAAAAAGAAACCAAAG	0.423		NA											4	30					0	0	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670885	7670885	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:7670885G>A	uc001mfj.3	+	21	2509	c.2121G>A	c.(2119-2121)GAG>GAA	p.E707E	PPFIBP2_uc010rbb.1_Silent_p.E630E|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.E641E|PPFIBP2_uc010rbe.1_Silent_p.E595E|PPFIBP2_uc001mfl.3_Silent_p.E564E|PPFIBP2_uc009yfj.1_Silent_p.E351E	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	707					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	p.E707D(1)		ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGATGAGGTGAGACCAC	0.498		NA											20	180					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472445	66472445	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:66472445G>A	uc001ojd.2	-	14	2374	c.2302C>T	c.(2302-2304)CGC>TGC	p.R768C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	768	Spectrin 5.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GACACCAGGCGCAGTGCGTCA	0.682		NA											11	52					0	0	0	0
TPCN2	219931	broad.mit.edu	37	11	68846464	68846464	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:68846464C>T	uc001oos.2	+	16	1631	c.1515C>T	c.(1513-1515)GAC>GAT	p.D505D	TPCN2_uc001oor.2_Silent_p.D420D|TPCN2_uc010rqg.1_Silent_p.D505D|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	505	Helical; Name=S3 of repeat II; (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGTTTGACGGGCTCCTCA	0.612		NA											5	74					0	0	0	0
CACNA1C	775	broad.mit.edu	37	12	2717687	2717687	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:2717687C>T	uc009zdu.1	+	28	3740	c.3427C>T	c.(3427-3429)CGC>TGC	p.R1143C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1120C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1123C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1123C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qka.1_Missense_Mutation_p.R658C|CACNA1C_uc001qki.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R859C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1143	Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCTGCTGTACCGCTCCATCGA	0.493		NA											4	16					0	0	0	0
ACRBP	84519	broad.mit.edu	37	12	6753666	6753666	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:6753666T>A	uc001qpu.1	-	5	629	c.581A>T	c.(580-582)GAG>GTG	p.E194V	ACRBP_uc010sfg.1_Missense_Mutation_p.E161V	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	194						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						CTGCTTGTGCTCTGGCGCTTG	0.463		NA											9	99					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9334673	9334673	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:9334673G>A	uc001qvl.2	-	14	1616	c.1587C>T	c.(1585-1587)GAC>GAT	p.D529D	PZP_uc009zgl.2_Silent_p.D398D	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TGGGGGCAACGTCTGACTCCA	0.413		NA											11	37					0	0	0	0
PTPRO	5800	broad.mit.edu	37	12	15636952	15636952	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:15636952C>T	uc001rcv.1	+	2	294	c.120C>T	c.(118-120)ATC>ATT	p.I40I	PTPRO_uc001rcw.1_Silent_p.I40I|PTPRO_uc001rcu.1_Silent_p.I40I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	40	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				ATAATAACATCGTTGTCTCAT	0.348		NA											22	73					0	0	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169147	60169147	+	Silent	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:60169147T>G	uc001sqs.2	+	5	1370	c.1071T>G	c.(1069-1071)GTT>GTG	p.V357V	SLC16A7_uc001sqt.2_Silent_p.V357V|SLC16A7_uc001squ.2_Silent_p.V357V|SLC16A7_uc009zqi.2_Silent_p.V258V|SLC16A7_uc010ssi.1_Silent_p.V258V	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	357	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTAGCAGTGTTCTCTTTGAAA	0.498		NA											18	70					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124335520	124335520	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:124335520C>T	uc001uft.3	+	34	5859	c.5834C>T	c.(5833-5835)CCC>CTC	p.P1945L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGAGCTGCCCGAGTCGGTG	0.612		NA											24	35					0	0	0	0
FLT3	2322	broad.mit.edu	37	13	28589748	28589748	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:28589748G>A	uc001urw.2	-	21	2714	c.2632C>T	c.(2632-2634)CTG>TTG	p.L878L	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	878	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTCCCACAGTAATATTCCA	0.542		NA	Mis|O		AML|ALL								21	29					0	0	0	0
SPERT	220082	broad.mit.edu	37	13	46287473	46287473	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:46287473C>T	uc001van.1	+	3	393	c.313C>T	c.(313-315)CGC>TGC	p.R105C	SPERT_uc001vao.2_Missense_Mutation_p.R69C	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	105						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCATGGAGCGCCCCATGTC	0.667		NA											26	48					0	0	0	0
PCDH8	5100	broad.mit.edu	37	13	53421570	53421570	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:53421570G>A	uc001vhi.2	-	1	1205	c.1002C>T	c.(1000-1002)CGC>CGT	p.R334R	PCDH8_uc001vhj.2_Silent_p.R334R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	334	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGTGGCAGCGCGGGGCCCGG	0.721		NA											8	9					0	0	0	0
FNTB	2342	broad.mit.edu	37	14	65453708	65453708	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:65453708C>T	uc001xia.2	+	1	202	c.37C>T	c.(37-39)CCA>TCA	p.P13S	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|uc001xib.2_5'Flank	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	13					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTATTGCCCTCCATCTTCCTC	0.562		NA									OREG0022738	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	34					0	0	0	0
NDN	4692	broad.mit.edu	37	15	23931748	23931748	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:23931748C>G	uc001ywk.2	-	1	703	c.617G>C	c.(616-618)AGA>ACA	p.R206T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	206	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCGCTCTCTCTGGCGCCGCG	0.652		NA							Prader-Willi_syndrome				4	39					0	0	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776457	31776457	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:31776457C>T	uc001zfq.2	-	11	1914	c.1821G>A	c.(1819-1821)CCG>CCA	p.P607P	OTUD7A_uc001zfr.2_Silent_p.P614P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	607						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTCGCCCCGCGGCCCACCGC	0.697		NA											4	13					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44944131	44944131	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:44944131C>A	uc001ztx.2	-	6	1045	c.1014G>T	c.(1012-1014)TGG>TGT	p.W338C	SPG11_uc010ueh.1_Missense_Mutation_p.W338C|SPG11_uc010uei.1_Missense_Mutation_p.W338C|SPG11_uc001zua.1_Missense_Mutation_p.W338C	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	338	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTGGGCTTTCCAAGACCTGG	0.373		NA											4	24					0.00024832	0.00026567	1	0
CREBBP	1387	broad.mit.edu	37	16	3801777	3801777	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:3801777C>G	uc002cvv.2	-	20	3933	c.3729G>C	c.(3727-3729)GAG>GAC	p.E1243D	CREBBP_uc002cvw.2_Missense_Mutation_p.E1205D	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1243	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCTGGATCTCTGTGAAAC	0.522		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				7	24					0	0	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730126	53730126	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:53730126C>T	uc002ehp.2	-	3	231	c.167G>A	c.(166-168)CGT>CAT	p.R56H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R56H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R56H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	56					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATCATGCAAACGCAAAAATCT	0.398		NA											61	78					0	0	0	0
GNAO1	2775	broad.mit.edu	37	16	56309938	56309938	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:56309938G>A	uc002eit.3	+	3	1154	c.257G>A	c.(256-258)CGG>CAG	p.R86Q	GNAO1_uc002eiu.3_Missense_Mutation_p.R86Q	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	86					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GCCATCGTCCGGGCCATGGAC	0.517		NA											15	35					0	0	0	0
CNGB1	1258	broad.mit.edu	37	16	57953017	57953017	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:57953017A>G	uc002emt.2	-	20	2008	c.1943T>C	c.(1942-1944)ATT>ACT	p.I648T	CNGB1_uc010cdh.2_Missense_Mutation_p.I642T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	648	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGCGGGTCAATGCTCTGGGG	0.577		NA											17	34					0	0	0	0
CES2	8824	broad.mit.edu	37	16	66969411	66969411	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:66969411T>C	uc002eqr.2	+	1	1065	c.65T>C	c.(64-66)CTG>CCG	p.L22P	CES2_uc002eqq.2_Missense_Mutation_p.L22P|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	Error:Variant_position_missing_in_O00748_after_alignment					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGCACCCCGCTGACTCCCTGC	0.667		NA											61	71					0	0	0	0
FHOD1	29109	broad.mit.edu	37	16	67267888	67267888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:67267888G>T	uc002esl.2	-	13	1830	c.1718C>A	c.(1717-1719)TCA>TAA	p.S573*	FHOD1_uc010ced.2_Nonsense_Mutation_p.S380*|FHOD1_uc010vjh.1_Nonsense_Mutation_p.S233*	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	573	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGTGGGGGTGAGGGAGCTGG	0.602		NA											7	53					0.000157383	0.000169118	1	0
CD68	968	broad.mit.edu	37	17	7483866	7483866	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7483866C>T	uc002ghv.2	+	3	841	c.650C>T	c.(649-651)TCA>TTA	p.S217L	CD68_uc002ghu.2_Missense_Mutation_p.S190L	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	217	Extracellular (Potential).					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						CTGCTTCTCTCATTCCCCTAT	0.577		NA											9	80					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577575	7577575	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7577575A>C	uc002gim.2	-	7	900	c.706T>G	c.(706-708)TAC>GAC	p.Y236D	TP53_uc002gig.1_Missense_Mutation_p.Y236D|TP53_uc002gih.2_Missense_Mutation_p.Y236D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104D|TP53_uc010cng.1_Missense_Mutation_p.Y104D|TP53_uc002gii.1_Missense_Mutation_p.Y104D|TP53_uc010cnh.1_Missense_Mutation_p.Y236D|TP53_uc010cni.1_Missense_Mutation_p.Y236D|TP53_uc002gij.2_Missense_Mutation_p.Y236D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143D|TP53_uc002gio.2_Missense_Mutation_p.Y104D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	236	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (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.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236fs*4(2)|p.Y236Y(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		TTACACATGTAGTTGTAGTGG	0.577		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)			23	15					0	0	0	0
CUEDC1	404093	broad.mit.edu	37	17	55957093	55957093	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:55957093C>G	uc002ivd.1	-	3	1062	c.343G>C	c.(343-345)GAA>CAA	p.E115Q	CUEDC1_uc002ive.1_Missense_Mutation_p.E115Q	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	115	Pro-rich.									skin(2)	2						AAAGTCCTTTCCAAGATCTAA	0.343		NA											3	59					0	0	0	0
ROCK1	6093	broad.mit.edu	37	18	18629142	18629142	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr18:18629142T>C	uc002kte.2	-	4	1266	c.325A>G	c.(325-327)AAA>GAA	p.K109E		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	109	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					ATTTCAAATTTGCTGAGAAGC	0.363		NA											12	75					0	0	0	0
UBXN6	80700	broad.mit.edu	37	19	4446549	4446549	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:4446549C>A	uc002man.1	-	8	964	c.868G>T	c.(868-870)GGG>TGG	p.G290W	UBXN6_uc010dty.1_Missense_Mutation_p.G194W|UBXN6_uc002mam.1_Missense_Mutation_p.G237W	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	290						microtubule organizing center|nucleus	protein binding				0						AAGAAGTCCCCAGGCAGTTCG	0.682		NA											6	25					2.01e-06	2.23e-06	1	0
LONP1	9361	broad.mit.edu	37	19	5700888	5700888	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:5700888T>C	uc002mcx.2	-	9	1451	c.1418A>G	c.(1417-1419)TAC>TGC	p.Y473C	LONP1_uc002mcy.2_Missense_Mutation_p.Y409C|LONP1_uc010duh.2_Missense_Mutation_p.Y214C|LONP1_uc010dui.2_Missense_Mutation_p.Y457C|LONP1_uc002mcz.2_Missense_Mutation_p.Y277C	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	473					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CTCGTTGCTGTACTTGCCCCA	0.607		NA											24	73					0	0	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719340	45719340	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:45719340G>T	uc002pay.1	-	9	973	c.932C>A	c.(931-933)CCA>CAA	p.P311Q		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	311										ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCTGATGTCTGGGTAGTCGCG	0.657		NA											15	35					6.32e-08	7.1e-08	1	0
CCDC8	83987	broad.mit.edu	37	19	46915759	46915759	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46915759G>A	uc002pep.2	-	1	1161	c.309C>T	c.(307-309)AGC>AGT	p.S103S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	103						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACTCGCTGTCGCTGGCGTTGC	0.652		NA											17	122					0	0	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998417	46998417	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46998417G>A	uc002pes.2	-	1	753	c.306C>T	c.(304-306)GTC>GTT	p.V102V	uc002peu.1_Silent_p.R176R	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	102										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTGCCTCAGGACCCTCGTGT	0.478		NA											27	169					0	0	0	0
ZNF134	7693	broad.mit.edu	37	19	58131571	58131571	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:58131571G>A	uc002qpn.2	+	3	183	c.84G>A	c.(82-84)CAG>CAA	p.Q28Q	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	28						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTCTGAACAGAGCATTTCTA	0.453		NA											34	49					0	0	0	0
DTNB	1838	broad.mit.edu	37	2	25803661	25803661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:25803661A>C	uc002rgh.2	-	7	888	c.638T>G	c.(637-639)ATG>AGG	p.M213R	DTNB_uc010yko.1_Missense_Mutation_p.M156R|DTNB_uc010ykp.1_Missense_Mutation_p.M9R|DTNB_uc002rgo.2_Missense_Mutation_p.M34R|DTNB_uc002rgi.2_Missense_Mutation_p.M213R|DTNB_uc002rgj.2_Missense_Mutation_p.M213R|DTNB_uc002rgk.2_Missense_Mutation_p.M213R|DTNB_uc002rgl.2_Missense_Mutation_p.M213R|DTNB_uc002rgq.2_Missense_Mutation_p.M213R|DTNB_uc002rgm.2_Missense_Mutation_p.M213R|DTNB_uc002rgn.2_Missense_Mutation_p.M9R|DTNB_uc002rgr.1_Missense_Mutation_p.M202R|DTNB_uc010ykq.1_Missense_Mutation_p.M66R	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	213						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCATTGTGTCTAA	0.383		NA											5	53					0	0	0	0
ACOXL	55289	broad.mit.edu	37	2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:111666433C>T	uc002tgr.3	+	11	1080	c.856C>T	c.(856-858)CGG>TGG	p.R286W	ACOXL_uc010fkc.2_Missense_Mutation_p.R286W|ACOXL_uc010yxk.1_Missense_Mutation_p.R286W	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						ACAGACCCTGCGGCTGATGCC	0.547		NA											9	49					0	0	0	0
MAP2	4133	broad.mit.edu	37	2	210559034	210559034	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:210559034C>G	uc002vde.1	+	7	2388	c.2140C>G	c.(2140-2142)CTT>GTT	p.L714V	MAP2_uc002vdc.1_Missense_Mutation_p.L714V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L710V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	714					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCCATAGCCCTTGGATTTAA	0.443		NA											46	75					0	0	0	0
RBCK1	10616	broad.mit.edu	37	20	398533	398533	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:398533C>G	uc002wdp.3	+	4	1112	c.419C>G	c.(418-420)CCT>CGT	p.P140R	RBCK1_uc010zpl.1_Missense_Mutation_p.P140R|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.P98R|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L24V	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	140	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCCCTCAACCCTCAGGAGCTG	0.672		NA											8	24					0	0	0	0
BPI	671	broad.mit.edu	37	20	36932638	36932638	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:36932638C>A	uc002xib.2	+	1	87	c.25C>A	c.(25-27)CCT>ACT	p.P9T		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	9					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				GGCCAGGGGCCCTTGCAACGC	0.607		NA											33	73					1.22e-17	1.41e-17	1	0
ZNF831	128611	broad.mit.edu	37	20	57769698	57769698	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:57769698G>A	uc002yan.2	+	1	3624	c.3624G>A	c.(3622-3624)GCG>GCA	p.A1208A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1208						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGTACTTGGCGGTGCACTTTC	0.642		NA											10	18					0	0	0	0
C22orf28	51493	broad.mit.edu	37	22	32784017	32784017	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:32784017C>T	uc003amm.2	-	12	1611	c.1480G>A	c.(1480-1482)GCC>ACC	p.A494T		NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	494					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						AGTTTAATGGCTTTCTTGCTG	0.463		NA											4	23					0	0	0	0
TCF20	6942	broad.mit.edu	37	22	42605941	42605941	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:42605941G>A	uc003bcj.1	-	1	5505	c.5371C>T	c.(5371-5373)CGC>TGC	p.R1791C	TCF20_uc003bck.1_Missense_Mutation_p.R1791C|TCF20_uc003bnt.2_Missense_Mutation_p.R1791C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1791	Nuclear localization signal (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TCTTCCGAGCGGTGGCGCCGC	0.597		NA											16	46					0	0	0	0
CCBP2	1238	broad.mit.edu	37	3	42906038	42906038	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:42906038C>T	uc003cme.2	+	3	223	c.44C>T	c.(43-45)GCC>GTC	p.A15V	CCBP2_uc003cmd.1_Missense_Mutation_p.A15V|CCBP2_uc003cmf.2_Missense_Mutation_p.A15V|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	15	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACTGAGGATGCCGATTCTGAG	0.542		NA											3	27					0	0	0	0
RBM5	10181	broad.mit.edu	37	3	50144992	50144992	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:50144992C>T	uc003cyg.2	+	12	1179	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	RBM5_uc011bdj.1_Missense_Mutation_p.S288L|RBM5_uc011bdk.1_Missense_Mutation_p.S172L	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	344	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCAGTGGTCATCCACCCAG	0.512		NA											14	18					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492402	107492402	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:107492402G>A	uc010hpr.2	+	11	2161	c.1834G>A	c.(1834-1836)GAG>AAG	p.E612K	BBX_uc003dwk.3_Missense_Mutation_p.E612K|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E633K|BBX_uc003dwm.3_Missense_Mutation_p.E612K|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGGAAATCCGAGAGGTCTTG	0.483		NA											13	50					0	0	0	0
LRRC58	116064	broad.mit.edu	37	3	120053938	120053938	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120053938A>C	uc003edr.2	-	3	774	c.678T>G	c.(676-678)TAT>TAG	p.Y226*		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	226	LRR 8.										0				GBM - Glioblastoma multiforme(114;0.147)		CTCGAGGCAGATATGTCAGCA	0.363		NA											7	37					0	0	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495328	120495328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120495328G>T	uc003edz.3	+	4	823	c.709G>T	c.(709-711)GAA>TAA	p.E237*		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	237					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GCACCACCGGGAAGCATGGGC	0.458		NA											25	66					2.01e-23	2.32e-23	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181534	128181534	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:128181534G>A	uc003ekk.1	-	3	2216	c.555C>T	c.(553-555)TCC>TCT	p.S185S	uc003ekl.1_5'Flank	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	185					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)		TCATCTCGGTGGACGACATCA	0.627		NA											15	39					0	0	0	0
BFSP2	8419	broad.mit.edu	37	3	133119364	133119364	+	Missense_Mutation	SNP	G	G	T	rs148759360		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:133119364G>T	uc003epn.1	+	1	575	c.437G>T	c.(436-438)CGC>CTC	p.R146L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	146	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						AAAGCCACACGCTCGGGAAAC	0.617		NA											6	18					5.94e-07	6.61e-07	1	0
SGEF	26084	broad.mit.edu	37	3	153905593	153905593	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:153905593A>T	uc011bog.1	+	7	1818	c.1607A>T	c.(1606-1608)GAA>GTA	p.E536V	SGEF_uc011boh.1_Missense_Mutation_p.E536V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	536	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGCACAAATGAAGTCTACCAA	0.343		NA											4	18					0	0	0	0
RGS12	6002	broad.mit.edu	37	4	3424168	3424168	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:3424168C>T	uc003ggw.2	+	11	3808	c.2904C>T	c.(2902-2904)CTC>CTT	p.L968L	RGS12_uc003ggv.2_Silent_p.L968L|RGS12_uc003ggy.1_Silent_p.L366L|RGS12_uc003ggz.2_Silent_p.L320L|RGS12_uc010icu.1_Silent_p.L167L|RGS12_uc011bvs.1_Silent_p.L310L|RGS12_uc003gha.2_Silent_p.L310L|RGS12_uc010icv.2_Silent_p.L167L|RGS12_uc003ghb.2_Silent_p.L167L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	968	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCATTCATCTCCCGGATGGGA	0.627		NA											10	17					0	0	0	0
DRD5	1816	broad.mit.edu	37	4	9785061	9785061	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:9785061C>G	uc003gmb.3	+	1	1804	c.1408C>G	c.(1408-1410)CCT>GCT	p.P470A		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	470	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAAATAACACCTTTCACCCC	0.483		NA											7	37					0	0	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460413	70460413	+	Silent	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:70460413T>C	uc003hem.3	-	5	1149	c.1086A>G	c.(1084-1086)GGA>GGG	p.G362G	UGT2A1_uc011caq.1_Silent_p.G528G|UGT2A1_uc010ihu.2_Silent_p.G362G|UGT2A1_uc010iht.2_Silent_p.G318G|UGT2A1_uc010ihs.2_Silent_p.G363G	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	362	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TTTTGGGATGTCCTAATTTGA	0.418		NA											2	8					0	0	0	0
CMBL	134147	broad.mit.edu	37	5	10280584	10280584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:10280584C>T	uc003jes.2	-	6	1170	c.719G>A	c.(718-720)TGG>TAG	p.W240*		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase	240						cytosol	hydrolase activity|protein binding			skin(1)	1						CTTGTTCAGCCACTCAATTAA	0.418		NA											7	87					0	0	0	0
TRIM36	55521	broad.mit.edu	37	5	114462268	114462268	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:114462268C>T	uc003kqs.2	-	10	2628	c.2119G>A	c.(2119-2121)GGC>AGC	p.G707S	TRIM36_uc011cwc.1_Missense_Mutation_p.G695S|TRIM36_uc003kqt.2_Missense_Mutation_p.G552S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	707	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCTCCACTGCCCATTAATGCA	0.393		NA											7	14					0	0	0	0
TIMD4	91937	broad.mit.edu	37	5	156381757	156381757	+	Silent	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:156381757A>C	uc003lwh.2	-	2	126	c.69T>G	c.(67-69)ACT>ACG	p.T23T	TIMD4_uc010jii.2_Silent_p.T23T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	23						integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCTGAAGTGACTGGTG	0.473		NA											4	8					0	0	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806706	27806706	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:27806706C>T	uc003njv.2	+	1	267	c.267C>T	c.(265-267)ACC>ACT	p.T89T	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.T89T	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	89					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGCGCTCGACCATCACCTCCA	0.637		NA											20	94					0	0	0	0
CLIC5	53405	broad.mit.edu	37	6	45882035	45882035	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:45882035C>T	uc003oxv.3	-	5	1101	c.995G>A	c.(994-996)CGC>CAC	p.R332H	CLIC5_uc003oxu.3_Missense_Mutation_p.R173H|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R173H	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	332	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						CAGGAACTTGCGCCGGGACCC	0.557		NA											13	48					0	0	0	0
FBXL4	26235	broad.mit.edu	37	6	99353453	99353453	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:99353453G>A	uc003ppf.1	-	5	1310	c.952C>T	c.(952-954)CTG>TTG	p.L318L	FBXL4_uc003ppg.1_Silent_p.L318L|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.2_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	318	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGTATTGCAGAGGATCACAG	0.433		NA											12	42					0	0	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222184	131222184	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:131222184T>C	uc003qch.2	-	7	1248	c.1066A>G	c.(1066-1068)ATC>GTC	p.I356V	EPB41L2_uc003qcg.1_Missense_Mutation_p.I356V|EPB41L2_uc011eby.1_Missense_Mutation_p.I356V|EPB41L2_uc003qci.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfk.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfl.1_Missense_Mutation_p.I356V	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	356	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAGGTCGATGCTGCCATGT	0.542		NA											19	94					0	0	0	0
PEX3	8504	broad.mit.edu	37	6	143793311	143793311	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:143793311A>G	uc003qjl.2	+	8	855	c.593A>G	c.(592-594)CAT>CGT	p.H198R	PEX3_uc011edx.1_Missense_Mutation_p.H198R	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	198	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTTAAACATTCTTTGTCC	0.333		NA											19	20					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4874238	4874238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:4874238C>T	uc003snj.1	-	4	1589	c.1416G>A	c.(1414-1416)TGG>TGA	p.W472*	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Nonsense_Mutation_p.W232*|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	472					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCACACTGACCCAGACAGTCT	0.682		NA											3	10					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21934574	21934574	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:21934574T>G	uc003svc.2	+	80	13058	c.13027T>G	c.(13027-13029)TGG>GGG	p.W4343G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4343					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACCAGACACTTGGAGCAAACT	0.522		NA							Kartagener_syndrome				6	41					0	0	0	0
GPNMB	10457	broad.mit.edu	37	7	23306162	23306162	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:23306162C>T	uc003swc.2	+	7	1242	c.1081C>T	c.(1081-1083)CTG>TTG	p.L361L	GPNMB_uc003swb.2_Silent_p.L349L|GPNMB_uc011jyy.1_Silent_p.L303L|GPNMB_uc011jyz.1_Silent_p.L250L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	361	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CCCCCTGGAGCTGAGTAGGAT	0.413		NA											9	43					0	0	0	0
FKBP6	8468	broad.mit.edu	37	7	72754700	72754700	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:72754700G>A	uc003tya.2	+	6	781	c.649G>A	c.(649-651)GCC>ACC	p.A217T	FKBP6_uc003twz.2_Missense_Mutation_p.A187T|FKBP6_uc011kew.1_Missense_Mutation_p.A212T|FKBP6_uc010lbe.1_RNA	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	217					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTGGAGGCCGCCAAGCTTCC	0.567		NA											13	42					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885018	88885018	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr8:88885018G>A	uc003ydz.2	-	1	1279	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	394										ovary(1)	1						AGAATTAACCGTAGGAGAAAC	0.502		NA											19	22					0	0	0	0
LRRC19	64922	broad.mit.edu	37	9	26997861	26997861	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:26997861C>A	uc003zqh.2	-	3	571	c.460G>T	c.(460-462)GGC>TGC	p.G154C	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	154	LRR 5.|Extracellular (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATCAAATTGCCTTGCAGATTC	0.323		NA											16	36					4.15e-12	4.75e-12	1	0
TRPM3	80036	broad.mit.edu	37	9	73152300	73152300	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:73152300C>T	uc004aid.2	-	25	3937	c.3693G>A	c.(3691-3693)CGG>CGA	p.R1231R	TRPM3_uc004ahu.2_Silent_p.R1073R|TRPM3_uc004ahv.2_Silent_p.R1033R|TRPM3_uc004ahw.2_Silent_p.R1103R|TRPM3_uc004ahx.2_Silent_p.R1090R|TRPM3_uc004ahy.2_Silent_p.R1093R|TRPM3_uc004ahz.2_Silent_p.R1080R|TRPM3_uc004aia.2_Silent_p.R1078R|TRPM3_uc004aib.2_Silent_p.R1068R|TRPM3_uc004aic.2_Silent_p.R1231R	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1256	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTTCCTCCAGCCGCATAGACA	0.572		NA											4	32					0	0	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705030	112705030	+	Silent	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:112705030T>C	uc004bei.2	+	7	753	c.561T>C	c.(559-561)TCT>TCC	p.S187S	PALM2_uc004bef.2_Silent_p.S189S|PALM2_uc004beg.2_Silent_p.S155S|PALM2_uc004beh.3_Silent_p.S187S|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGATTCTCTCTACATCTACCA	0.453		NA											6	21					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	119976807	119976807	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:119976807A>T	uc004bjs.1	-	3	946	c.845T>A	c.(844-846)GTG>GAG	p.V282E	ASTN2_uc004bjr.1_Missense_Mutation_p.V282E|ASTN2_uc004bjt.1_Missense_Mutation_p.V282E	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	282	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCGGATGGGCACGCCAATGAC	0.602		NA											7	36					0	0	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843487	131843487	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:131843487G>C	uc004bxc.2	+	1	104	c.76_splice	c.e1+1	p.G26_splice	DOLPP1_uc004bxd.2_Splice_Site_p.G26_splice|DOLPP1_uc004bxe.2_Splice_Site	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a						dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						TATCCTGCAGGTAAAAGGCGG	0.706		NA											8	44					0	0	0	0
FAM46D	169966	broad.mit.edu	37	X	79698533	79698533	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chrX:79698533C>T	uc004edl.1	+	5	829	c.495C>T	c.(493-495)CTC>CTT	p.L165L	FAM46D_uc004edm.1_Silent_p.L165L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	165										lung(2)	2						TGAGTTCACTCAGACGGCAGT	0.368		NA											15	29					0	0	0	0
TMEM206	55248	broad.mit.edu	37	1	212583778	212583778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:212583778delC	uc001hjc.3	-	2	290	c.122delG	c.(121-123)GGTfs	p.G41fs	TMEM206_uc010pte.1_Frame_Shift_Del_p.G102fs	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	41	Cytoplasmic (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGTAAGATACCCGGACCTTG	0.582		NA											34	218	---	---	---	---	NA	NA	NA	NA
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G	rs35708848		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:31809832_31809833insG	uc001ivs.3	+	7	1632_1633	c.1569_1570insG	c.(1567-1572)GAAGGGfs	p.E523fs	ZEB1_uc001ivr.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qee.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qef.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc009xlj.1_Frame_Shift_Ins_p.E449fs|ZEB1_uc010qeg.1_Frame_Shift_Ins_p.E382fs|ZEB1_uc009xlk.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivt.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivu.3_Frame_Shift_Ins_p.E524fs|ZEB1_uc001ivv.3_Frame_Shift_Ins_p.E503fs|ZEB1_uc010qeh.1_Frame_Shift_Ins_p.E456fs|ZEB1_uc009xlo.1_Frame_Shift_Ins_p.E506fs|ZEB1_uc009xlp.2_Frame_Shift_Ins_p.E507fs	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	523_524					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371		NA											12	40	---	---	---	---	NA	NA	NA	NA
AGPS	8540	broad.mit.edu	37	2	178326624	178326624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:178326624delA	uc002ull.2	+	9	921	c.874delA	c.(874-876)AAAfs	p.K292fs	AGPS_uc010zfb.1_Frame_Shift_Del_p.K202fs	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	292	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGCTTAAAGAAAGTGG	0.383		NA											30	32	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187531028	187531029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:187531028_187531029insT	uc003izf.2	-	15	10182_10183	c.9994_9995insA	c.(9994-9996)ACCfs	p.T3332fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3332	Extracellular (Potential).|Cadherin 30.				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						GAACACAGGGGTATTATCGTTG	0.465		NA								HNSCC(5;0.00058)			9	17	---	---	---	---	NA	NA	NA	NA
HCN1	348980	broad.mit.edu	37	5	45262631	45262631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:45262631delG	uc003jok.2	-	8	2090	c.2065delC	c.(2065-2067)CAGfs	p.Q689fs		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	689	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTGATGGCTGGGGGGTCTGT	0.637		NA											7	59	---	---	---	---	NA	NA	NA	NA
ESR1	2099	broad.mit.edu	37	6	152129337	152129338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:152129337_152129338insC	uc003qom.3	+	3	660_661	c.290_291insC	c.(289-291)TTCfs	p.F97fs	ESR1_uc010kin.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kio.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kip.2_Frame_Shift_Ins_p.F97fs|ESR1_uc003qon.3_Frame_Shift_Ins_p.F97fs|ESR1_uc003qoo.3_Frame_Shift_Ins_p.F97fs|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Frame_Shift_Ins_p.F97fs	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	97	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTGGGGGGTTTCCCCCCACTCA	0.723		NA											2	4	---	---	---	---	NA	NA	NA	NA
TTF1	7270	broad.mit.edu	37	9	135271848	135271850	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:135271848_135271850delTCT	uc004cbl.2	-	5	1878_1880	c.1826_1828delAGA	c.(1825-1830)AAGATG>ATG	p.K609del	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_In_Frame_Del_p.K94del	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	609					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACATCGAACATCTTCTTTGCTCG	0.389		NA											10	43	---	---	---	---	NA	NA	NA	NA
