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	pox_cutoff	isArtifactMode	oxoGCut
ZBTB40	9923	broad.mit.edu	37	1	22843853	22843853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:22843853G>A	uc001bft.2	+	14	3240	c.2729G>A	c.(2728-2730)CGC>CAC	p.R910H	ZBTB40_uc001bfu.2_Missense_Mutation_p.R910H|ZBTB40_uc009vqi.1_Missense_Mutation_p.R798H	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	910	C2H2-type 4.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAGCTGTCCCGCCACGTGAGG	0.522000													4	220					0	0	0.021553	0	0
ARID1A	8289	broad.mit.edu	37	1	27106185	27106185	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:27106185C>T	uc001bmv.1	+	20	6169	c.5796C>T	c.(5794-5796)GCC>GCT	p.A1932A	ARID1A_uc001bmu.1_Silent_p.A1715A|ARID1A_uc001bmx.1_Silent_p.A778A|ARID1A_uc009vsm.1_Silent_p.A260A|ARID1A_uc009vsn.1_Silent_p.A174A	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1932					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTCAGAGGCCATCAAGGAGA	0.517000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								137	61					0	0	0.139131	0	0
TTLL7	79739	broad.mit.edu	37	1	84408199	84408199	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:84408199C>A	uc001djc.2	-	7	1066	c.670G>T	c.(670-672)GGG>TGG	p.G224W	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	224	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CGCACAAGCCCATCATGGTAG	0.368000													7	64					5.4927e-09	5.85888e-09	0.047766	1	0
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:248570073C>T	uc010pzm.1	+	1	778	c.778C>T	c.(778-780)CCT>TCT	p.P260S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	260	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507000													44	81					0	0	0.139131	0	0
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:864455C>G	uc001lsd.1	+	5	483	c.274C>G	c.(274-276)CTG>GTG	p.L92V	TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	92	Helical; (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672000													3	216					0	0	0.184627	0	0
PRPF19	27339	broad.mit.edu	37	11	60666698	60666698	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:60666698G>A	uc001nqf.2	-	11	1114	c.907C>T	c.(907-909)CGG>TGG	p.R303W		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	303					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						TCATGGGCCCGAACCACCTGT	0.567000											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	45					0	0	0.116897	0	0
TMEM138	51524	broad.mit.edu	37	11	61133677	61133677	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:61133677G>T	uc001nrl.1	+	3	465	c.289G>T	c.(289-291)GTC>TTC	p.V97F	TMEM138_uc010rli.1_Missense_Mutation_p.V97F|TMEM138_uc001nrm.2_Missense_Mutation_p.V97F	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	97	Helical; (Potential).					integral to membrane					0						CTCCCTTCATGTCTGGGTCAT	0.338000													5	124					0.000157383	0.000160732	0.038147	1	0
AHNAK	79026	broad.mit.edu	37	11	62294057	62294057	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:62294057G>A	uc001ntl.2	-	5	8132	c.7832C>T	c.(7831-7833)CCC>CTC	p.P2611L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2611					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCAACTTCGGGGCCCTTGAG	0.517000													89	154					0	0	0.139131	0	0
NOX4	50507	broad.mit.edu	37	11	89069013	89069013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:89069013C>T	uc001pct.2	-	17	1855	c.1616G>A	c.(1615-1617)GGA>GAA	p.G539E	NOX4_uc009yvr.2_Missense_Mutation_p.G514E|NOX4_uc001pcu.2_Missense_Mutation_p.G465E|NOX4_uc001pcw.2_Missense_Mutation_p.G232E|NOX4_uc001pcx.2_Missense_Mutation_p.G192E|NOX4_uc001pcv.2_Missense_Mutation_p.G499E|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.G352E|NOX4_uc009yvp.2_Missense_Mutation_p.G303E|NOX4_uc010rtv.1_Missense_Mutation_p.G475E|NOX4_uc009yvq.2_Missense_Mutation_p.G515E	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	539	Cytoplasmic (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TAGTACTTACCCTCTGTTATA	0.274000													29	51					0	0	0.153744	0	0
CD163	9332	broad.mit.edu	37	12	7651756	7651756	+	Silent	SNP	C	T	T	rs138586891		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:7651756C>T	uc001qsz.3	-	4	614	c.486G>A	c.(484-486)ACG>ACA	p.T162T	CD163_uc001qta.3_Silent_p.T162T|CD163_uc009zfw.2_Silent_p.T162T	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	162	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TCCCTCCACGCGTCAGCCTCA	0.408000													122	250					0	0	0.139131	0	0
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:11506566C>T	uc001qzw.1	-	4	508	c.471G>A	c.(469-471)AAG>AAA	p.K157K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	218	9.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597000													4	74					0	0	0.029380	0	0
KRT4	3851	broad.mit.edu	37	12	53202507	53202507	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53202507C>T	uc001saz.2	-	5	1455	c.1184G>A	c.(1183-1185)AGG>AAG	p.R395K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	321						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						AGCCTTGCTCCTCTGGGCAAT	0.582000													39	86					0	0	0.139131	0	0
TBX5	6910	broad.mit.edu	37	12	114803975	114803975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:114803975C>T	uc001tvo.2	-	8	1472	c.977G>A	c.(976-978)AGG>AAG	p.R326K	TBX5_uc001tvp.2_Missense_Mutation_p.R326K|TBX5_uc001tvq.2_Missense_Mutation_p.R276K|TBX5_uc010syv.1_Missense_Mutation_p.R326K	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	326					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCACCTTTCCTCTTGGTACA	0.507000													26	18					0	0	0.116897	0	0
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	A	A	rs148056282		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:122492809G>A	uc001ubp.2	+	5	675	c.538G>A	c.(538-540)GCA>ACA	p.A180T	BCL7A_uc001ubo.2_Missense_Mutation_p.A180T	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	180					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0.115264	0	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:44974297C>A	uc001wvn.2	-	1	2203	c.1894G>T	c.(1894-1896)GCT>TCT	p.A632S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	632	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000													3	17					5.9392e-07	6.13079e-07	0.021553	1	0
NIN	51199	broad.mit.edu	37	14	51192630	51192630	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:51192630G>C	uc001wym.2	-	30	6424	c.6233C>G	c.(6232-6234)TCC>TGC	p.S2078C	NIN_uc001wyi.2_Intron|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Missense_Mutation_p.S1365C|NIN_uc010tqp.1_Missense_Mutation_p.S2084C	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	2078					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTAAAGCTGGAATGTGAGGT	0.373000			T	PDGFRB	MPD								3	231					0	0	0.184627	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75373755	75373755	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:75373755A>G	uc010tux.1	-	11	2140	c.1612T>C	c.(1612-1614)TTT>CTT	p.F538L	RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc001xqw.2_Missense_Mutation_p.F507L|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	538	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTACTGAAAAAGGGATGGGAC	0.612000													5	417					0	0	0.029380	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr14:95081348G>A	uc001ydp.2	+	2	649	c.570G>A	c.(568-570)GGG>GGA	p.G190G	SERPINA3_uc001ydo.3_Silent_p.G215G|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.G190G|SERPINA3_uc001yds.2_Silent_p.G190G|SERPINA3_uc010avg.2_Silent_p.G190G	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000													54	117					0	0	0.139131	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473267	78473267	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr15:78473267C>T	uc002bdh.2	-	9	1139	c.1083G>A	c.(1081-1083)GTG>GTA	p.V361V	ACSBG1_uc010umw.1_Silent_p.V357V|ACSBG1_uc010umx.1_Silent_p.V119V|ACSBG1_uc010umy.1_Silent_p.V254V	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	361					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						GCAGCGTGTTCACCAGGCTCC	0.657000													34	47					0	0	0.124865	0	0
ELMO3	79767	broad.mit.edu	37	16	67233292	67233292	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr16:67233292C>T	uc002esa.2	+	1	265	c.222C>T	c.(220-222)CTC>CTT	p.L74L	ELMO3_uc002esb.2_Silent_p.L74L|ELMO3_uc002esc.2_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	21					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCCGCAGCTCATCCAGCTGG	0.701000													64	129					0	0	0.139131	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364768	6364768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:6364768C>T	uc002gdd.3	-	18	2566	c.2415G>A	c.(2413-2415)ATG>ATA	p.M805I	PITPNM3_uc010cln.2_Missense_Mutation_p.M769I|PITPNM3_uc010clm.2_Missense_Mutation_p.M288I|PITPNM3_uc002gdc.3_Missense_Mutation_p.M396I	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	805					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGAAGAAGATCATGCCCTGTG	0.607000													102	238					0	0	0.139131	0	0
TTLL6	284076	broad.mit.edu	37	17	46868902	46868902	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr17:46868902C>T	uc010wlo.1	-	10	1097	c.1062G>A	c.(1060-1062)AGG>AGA	p.R354R	TTLL6_uc002iob.2_Silent_p.R47R|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.R107R|TTLL6_uc002iod.2_Silent_p.R201R	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	306	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CCTCAATATCCCTCCATATCT	0.552000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	98					0	0	0.139131	0	0
MYL12B	103910	broad.mit.edu	37	18	3272945	3272945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:3272945C>T	uc010dkl.2	+	2	208	c.49C>T	c.(49-51)CGT>TGT	p.R17C	MYL12B_uc002klt.3_Intron|MYL12B_uc010wyv.1_Missense_Mutation_p.R17C	NM_001144944	NP_001138416	O14950	ML12B_HUMAN	myosin regulatory light chain MRCL2 isoform A	17					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0						GCGCCCTCAGCGTGCAACATC	0.388000													57	126					0	0	0.139131	0	0
RIOK3	8780	broad.mit.edu	37	18	21057195	21057195	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:21057195T>C	uc002kui.3	+	11	1924	c.1307T>C	c.(1306-1308)CTG>CCG	p.L436P	RIOK3_uc010dls.2_Missense_Mutation_p.L436P|RIOK3_uc010xas.1_Missense_Mutation_p.L420P|RIOK3_uc010xat.1_Missense_Mutation_p.L180P	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	436	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCACGGCCTGGAGTTCTTG	0.418000													4	214					0	0	0.021553	0	0
LAMA3	3909	broad.mit.edu	37	18	21487847	21487847	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:21487847G>A	uc002kuq.2	+	54	7049	c.6963G>A	c.(6961-6963)GGG>GGA	p.G2321G	LAMA3_uc002kur.2_Silent_p.G2265G|LAMA3_uc002kus.3_Silent_p.G712G|LAMA3_uc002kut.3_Silent_p.G656G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2321	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTATGGGAGGACACAGA	0.488000													35	89					0	0	0.104719	0	0
MOCOS	55034	broad.mit.edu	37	18	33795595	33795595	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:33795595C>T	uc002kzq.3	+	8	1475	c.1452C>T	c.(1450-1452)TTC>TTT	p.F484F		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	484					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TTCTTAGGTTCATCATAGACA	0.562000													4	47					0	0	0.184627	0	0
MBD1	4152	broad.mit.edu	37	18	47800100	47800100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:47800100G>A	uc010dow.1	-	12	1717	c.1280C>T	c.(1279-1281)ACA>ATA	p.T427I	MBD1_uc002lef.2_Missense_Mutation_p.T178I|MBD1_uc002leg.2_Missense_Mutation_p.T377I|MBD1_uc010xdi.1_Missense_Mutation_p.T478I|MBD1_uc002leh.3_Missense_Mutation_p.T371I|MBD1_uc002len.2_Missense_Mutation_p.T427I|MBD1_uc002lei.3_Missense_Mutation_p.T427I|MBD1_uc002lej.3_Missense_Mutation_p.T371I|MBD1_uc002lek.3_Missense_Mutation_p.T378I|MBD1_uc002lel.3_Missense_Mutation_p.T404I|MBD1_uc002lem.3_Missense_Mutation_p.T427I|MBD1_uc010xdj.1_Missense_Mutation_p.T371I|MBD1_uc010xdk.1_Missense_Mutation_p.T452I|MBD1_uc010dox.1_Missense_Mutation_p.T404I|MBD1_uc002leo.2_Missense_Mutation_p.T427I	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	427					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCTGTGCGTGTAGCCAAGGT	0.622000													4	188					0	0	0.184627	0	0
C19orf21	126353	broad.mit.edu	37	19	758679	758679	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:758679C>T	uc002lpo.2	+	2	1816	c.1733C>T	c.(1732-1734)CCA>CTA	p.P578L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	578										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TCCCCAACGCCAGATGAGAAC	0.607000													26	34					0	0	0.163468	0	0
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	T	T	rs148390269		TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:2917857C>T	uc002lwr.2	+	4	1386	c.1238C>T	c.(1237-1239)ACG>ATG	p.T413M	ZNF57_uc010xha.1_Missense_Mutation_p.T381M	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438000													4	103					0	0	0.069234	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171822	4171822	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:4171822G>A	uc002lzl.2	+	10	1358	c.1242G>A	c.(1240-1242)TCG>TCA	p.S414S	CREB3L3_uc002lzm.2_Silent_p.S404S|CREB3L3_uc010xib.1_Silent_p.S403S|CREB3L3_uc010xic.1_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	414	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCAATTCGACGGAGGAGC	0.677000													17	37					0	0	0.076483	0	0
MUC16	94025	broad.mit.edu	37	19	9065614	9065614	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:9065614T>C	uc002mkp.2	-	3	22036	c.21832A>G	c.(21832-21834)ATC>GTC	p.I7278V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7280	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCCTGGAGATCTCAGTAGTA	0.468000													4	128					0	0	0.150653	0	0
NWD1	284434	broad.mit.edu	37	19	16870083	16870083	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:16870083A>C	uc002neu.3	+	7	2239	c.1817A>C	c.(1816-1818)GAC>GCC	p.D606A	NWD1_uc002net.3_Missense_Mutation_p.D471A|NWD1_uc002nev.3_Missense_Mutation_p.D400A			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	606	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TCCCTGGACGACGAGGTCCTG	0.612000													25	58					0	0	0.125774	0	0
NCAN	1463	broad.mit.edu	37	19	19334907	19334907	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:19334907A>G	uc002nlz.2	+	4	652	c.553A>G	c.(553-555)AGC>GGC	p.S185G	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	185	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CTGCCGTCTCAGCTCAGCCAT	0.602000													30	49					0	0	0.134883	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48603074	48603074	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:48603074G>A	uc002phx.2	-	5	699	c.301C>T	c.(301-303)CTC>TTC	p.L101F	PLA2G4C_uc002phw.2_Missense_Mutation_p.L36F|PLA2G4C_uc010elr.2_Missense_Mutation_p.L101F|PLA2G4C_uc010xzd.1_Missense_Mutation_p.L111F|PLA2G4C_uc002phy.3_Missense_Mutation_p.L101F	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	101	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCAGCCTCGAGAGCTTCCATG	0.488000													97	171					0	0	0.139131	0	0
ZNF578	147660	broad.mit.edu	37	19	53014542	53014542	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:53014542C>G	uc002pzp.3	+	6	1152	c.908C>G	c.(907-909)ACA>AGA	p.T303R		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	78	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTGACATGCCATCGT	0.433000													3	136					0	0	0.150653	0	0
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:53014565G>A	uc002pzp.3	+	6	1175	c.931G>A	c.(931-933)GGT>AGT	p.G311S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418000													3	140					0	0	0.115264	0	0
ZNF761	388561	broad.mit.edu	37	19	53958820	53958820	+	Silent	SNP	T	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:53958820T>C	uc010eqp.2	+	7	1517	c.1059T>C	c.(1057-1059)CCT>CCC	p.P353P	ZNF761_uc010ydy.1_Silent_p.P299P|ZNF761_uc002qbt.1_Silent_p.P299P	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408000													4	265					0	0	0.047766	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:56539808C>T	uc002qmj.2	+	7	2209	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	NLRP5_uc002qmi.2_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	737	LRR 2.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000													91	196					0	0	0.139131	0	0
ZNF814	730051	broad.mit.edu	37	19	58384331	58384331	+	Silent	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr19:58384331A>G	uc002qqo.2	-	3	2699	c.2427T>C	c.(2425-2427)TTT>TTC	p.F809F	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	809	C2H2-type 22.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AGCTTTCAGCAAAAGATTTTC	0.383000													4	35					0	0	0.150653	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698954	17698954	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:17698954C>T	uc002rcl.1	-	1	753	c.729G>A	c.(727-729)TTG>TTA	p.L243L	RAD51AP2_uc010exn.1_Silent_p.L234L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	243										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCAATTTCCAAGCTGGGCT	0.353000													26	55					0	0	0.183431	0	0
VIT	5212	broad.mit.edu	37	2	36956612	36956612	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:36956612G>A	uc002rpl.2	+	3	317	c.96G>A	c.(94-96)AAG>AAA	p.K32K	VIT_uc002rpk.2_Silent_p.K25K|VIT_uc010ynf.1_Silent_p.K25K|VIT_uc002rpm.2_Silent_p.K25K|VIT_uc010ezv.2_Silent_p.K25K|VIT_uc010ezw.2_Silent_p.K25K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	32						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				AAACGGCAAAGAAGATTAAAA	0.299000													41	71					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179510746	179510746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:179510746C>T	uc010zfg.1	-	166	32829	c.32605G>A	c.(32605-32607)GAA>AAA	p.E10869K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_Missense_Mutation_p.E136K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACCTTTTCAGGTTCAGGT	0.348000													9	11					0	0	0.080935	0	0
CALCRL	10203	broad.mit.edu	37	2	188243710	188243710	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:188243710T>A	uc002upv.3	-	8	1005	c.457A>T	c.(457-459)ATT>TTT	p.I153F	CALCRL_uc010frt.2_Missense_Mutation_p.I153F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	153	Helical; Name=1; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGTGATGCAATAGACAATCCG	0.299000													9	270					0	0	0.080935	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:207025358A>G	uc002vbf.1	+	3	285	c.127A>G	c.(127-129)AGC>GGC	p.S43G	NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGCCGTGTCCAGCCCACCGCC	0.468000													4	165					0	0	0.150653	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:207025366G>A	uc002vbf.1	+	3	293	c.135G>A	c.(133-135)CCG>CCA	p.P45P	NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						CCAGCCCACCGCCTGCCGACT	0.448000													4	157					0	0	0.150653	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669382	234669382	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:234669382C>T	uc002vvb.2	+	1	464	c.449C>T	c.(448-450)ACG>ATG	p.T150M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.T150M	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	150					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTCATGCTGACGGACCCTTTC	0.527000													4	161					0	0	0.150653	0	0
C20orf7	79133	broad.mit.edu	37	20	13782265	13782265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:13782265C>T	uc002wom.2	+	7	686	c.653C>T	c.(652-654)CCT>CTT	p.P218L	C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.P190L|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	218					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				CACATTTCTCCTTTCACTGCT	0.453000													30	72					0	0	0.098360	0	0
PTPRT	11122	broad.mit.edu	37	20	40790007	40790007	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:40790007G>A	uc002xkg.2	-	17	2851	c.2667C>T	c.(2665-2667)TTC>TTT	p.F889F	PTPRT_uc010ggj.2_Silent_p.F908F|PTPRT_uc010ggi.2_Silent_p.F92F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	889	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCCTCCTTGAACCCGTAGC	0.493000													37	75					0	0	0.104719	0	0
EYA2	2139	broad.mit.edu	37	20	45630102	45630102	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr20:45630102C>T	uc002xsm.2	+	3	519	c.145C>T	c.(145-147)CTC>TTC	p.L49F	EYA2_uc010ghp.2_Missense_Mutation_p.L49F|EYA2_uc002xsn.2_Missense_Mutation_p.L54F|EYA2_uc002xso.2_Missense_Mutation_p.L49F|EYA2_uc002xsp.2_Missense_Mutation_p.L49F|EYA2_uc002xsq.2_Missense_Mutation_p.L49F	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	49					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				AGTGTCCCAGCTCTTCTCCAG	0.423000													29	56					0	0	0.098360	0	0
UMODL1	89766	broad.mit.edu	37	21	43531067	43531067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr21:43531067G>A	uc002zaf.1	+	11	1735	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T	UMODL1_uc002zad.1_Missense_Mutation_p.A507T|UMODL1_uc002zae.1_Missense_Mutation_p.A507T|UMODL1_uc002zag.1_Missense_Mutation_p.A579T|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	579	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACGGGAACAGCAGCCCTCGG	0.652000													4	23					0	0	0.150653	0	0
SGSM1	129049	broad.mit.edu	37	22	25294110	25294110	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25294110C>A	uc003abg.2	+	20	2516	c.2359C>A	c.(2359-2361)CTG>ATG	p.L787M	SGSM1_uc003abh.2_Missense_Mutation_p.L726M|SGSM1_uc010guu.1_Missense_Mutation_p.L732M|SGSM1_uc003abj.2_Missense_Mutation_p.L671M|SGSM1_uc003abi.1_Missense_Mutation_p.L707M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	787	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AGAGCCCAGTCTGAGCACAGA	0.612000													53	85					3.28884e-47	3.62907e-47	0.139131	1	0
CRYBB2	1415	broad.mit.edu	37	22	25623935	25623935	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:25623935C>A	uc003abp.1	+	4	337	c.289C>A	c.(289-291)CTG>ATG	p.L97M		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	97	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens				0						CCTCAGCTCCCTGAGGCCCAT	0.597000													30	69					5.91797e-21	6.45596e-21	0.163468	1	0
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Silent	SNP	A	G	G	rs143130815	by1000genomes	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr22:43870650A>G	uc011apv.1	+	4	664	c.441A>G	c.(439-441)GCA>GCG	p.A147A	MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562000													7	268					0	0	0.047766	0	0
ZNF619	285267	broad.mit.edu	37	3	40529490	40529490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:40529490C>T	uc011azb.1	+	6	1887	c.1609C>T	c.(1609-1611)CCC>TCC	p.P537S	ZNF619_uc010hhz.2_Missense_Mutation_p.P488S|ZNF619_uc003ckj.2_Missense_Mutation_p.P481S|ZNF619_uc011azc.1_Missense_Mutation_p.P497S|ZNF619_uc011azd.1_Missense_Mutation_p.P453S|ZNF619_uc011aza.1_Missense_Mutation_p.P439S	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	537					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCTACTGTCCCTGCGCCAT	0.532000													20	49					0	0	0.069288	0	0
CCDC12	151903	broad.mit.edu	37	3	46964898	46964898	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:46964898G>A	uc011baq.1	-	4	553	c.544C>T	c.(544-546)CTG>TTG	p.L182L	CCDC12_uc003cqo.2_Intron	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	Error:Variant_position_missing_in_Q8WUD4_after_alignment											0		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		GGCCACCCCaggacaaggggg	0.328000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	0.175082	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272124	186272124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:186272124G>A	uc003fqg.2	-	6	1592	c.1463C>T	c.(1462-1464)TCT>TTT	p.S488F	TBCCD1_uc011bry.1_Missense_Mutation_p.S488F|TBCCD1_uc003fqh.2_Missense_Mutation_p.S392F	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	488					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CTGATATACAGATGGAAGACC	0.403000													43	86					0	0	0.139131	0	0
TNK2	10188	broad.mit.edu	37	3	195609137	195609137	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:195609137G>A	uc003fvu.1	-	6	1215	c.672C>T	c.(670-672)TTC>TTT	p.F224F	TNK2_uc003fvs.1_Silent_p.F256F|TNK2_uc003fvt.1_Silent_p.F287F|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.F54F|TNK2_uc010hzx.1_Intron	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	224	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCCCAGGAGGAAGTGGCCCT	0.627000													21	59					0	0	0.099896	0	0
NHEDC1	150159	broad.mit.edu	37	4	103822465	103822465	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr4:103822465C>A	uc003hww.2	-	12	1479	c.1357G>T	c.(1357-1359)GAA>TAA	p.E453*	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Nonsense_Mutation_p.E226*	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	453						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		CTTGCTGTTTCTAGAGCCAGA	0.418000													15	182					4.4004e-07	4.59172e-07	0.083992	1	0
ARSJ	79642	broad.mit.edu	37	4	114824057	114824057	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr4:114824057C>T	uc003ibq.1	-	2	2061	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q	ARSJ_uc010imu.1_Silent_p.Q391Q|ARSJ_uc010imv.1_Silent_p.Q219Q	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	391						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCTCATCAATCTGTCCTTCAG	0.458000													95	77					0	0	0.139131	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592108	67592108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr5:67592108C>T	uc003jva.2	+	15	2484	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.R642*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.R342*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.R372*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.R321*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	642	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R642*(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GCGAGGGAAGCGAGATGGCAC	0.458000			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			9	184					0	0	0.069234	0	0
PRPH2	5961	broad.mit.edu	37	6	42689977	42689977	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:42689977G>A	uc003osk.2	-	1	382	c.96C>T	c.(94-96)ATC>ATT	p.I32I		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	32	Helical; (Potential).		I -> V (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGAAGATGATGATGCCAGCCA	0.488000													59	94					0	0	0.139131	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604623	62604623	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:62604623G>A	uc003peg.2	-	6	974	c.727C>T	c.(727-729)CCT>TCT	p.P243S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGAGGGGTAGGGACACCTCTT	0.582000													27	37					0	0	0.153744	0	0
BAI3	577	broad.mit.edu	37	6	69944934	69944934	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:69944934C>T	uc003pev.3	+	19	3066	c.2618C>T	c.(2617-2619)TCC>TTC	p.S873F	BAI3_uc010kak.2_Missense_Mutation_p.S873F|BAI3_uc011dxx.1_Missense_Mutation_p.S79F|BAI3_uc003pex.1_Missense_Mutation_p.S3F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	873	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATCATGGAATCCTCTGGCACA	0.363000													65	138					0	0	0.139131	0	0
PGM3	5238	broad.mit.edu	37	6	83878963	83878964	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:83878963_83878964GG>AC	uc003pjv.2	-	13	1658_1659	c.1618_1619CC>GT	c.(1618-1620)CCA>GTA	p.P540V	PGM3_uc003pjw.2_3'UTR|PGM3_uc011dyz.1_Missense_Mutation_p.P568V|DOPEY1_uc003pjt.2_Intron|uc003pju.1_5'Flank	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	540					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TCAGAAACCTGGTTGGGGCCTT	0.376000													16	41					0	0	0.115264	0	0
EYA4	2070	broad.mit.edu	37	6	133802688	133802688	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr6:133802688G>A	uc003qec.3	+	12	1516	c.1058G>A	c.(1057-1059)GGA>GAA	p.G353E	EYA4_uc011ecq.1_Missense_Mutation_p.G299E|EYA4_uc011ecr.1_Missense_Mutation_p.G305E|EYA4_uc003qed.3_Missense_Mutation_p.G353E|EYA4_uc003qee.3_Missense_Mutation_p.G330E|EYA4_uc011ecs.1_Missense_Mutation_p.G359E|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	353					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGTCCAGAGGAAGAGGCCGG	0.453000													68	144					0	0	0.139131	0	0
INTS1	26173	broad.mit.edu	37	7	1535823	1535823	+	Silent	SNP	G	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:1535823G>T	uc003skn.2	-	12	1781	c.1680C>A	c.(1678-1680)GCC>GCA	p.A560A	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	560					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGATGCCGGCCTCCTTCA	0.657000													41	72					1.1241e-08	1.18586e-08	0.139131	1	0
ELN	2006	broad.mit.edu	37	7	73477984	73477984	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:73477984G>C	uc003tzw.2	+	29	2061	c.1970G>C	c.(1969-1971)GGA>GCA	p.G657A	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.G651A|ELN_uc003tzz.2_Missense_Mutation_p.G570A|ELN_uc003tzo.2_Missense_Mutation_p.G603A|ELN_uc003tzp.2_Missense_Mutation_p.G562A|ELN_uc003tzq.2_Missense_Mutation_p.G515A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.G632A|ELN_uc003tzt.2_Missense_Mutation_p.G656A|ELN_uc003tzu.2_Missense_Mutation_p.G637A|ELN_uc003tzv.2_Missense_Mutation_p.G622A|ELN_uc003tzx.2_Missense_Mutation_p.G641A|ELN_uc011kff.1_Missense_Mutation_p.G651A|ELN_uc003tzy.2_Missense_Mutation_p.G627A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	713	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGGACTCGGAGTCGGAGGG	0.552000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						61	150					0	0	0.139131	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130895	75130895	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:75130895C>T	uc011kfy.1	+	6	906	c.770C>T	c.(769-771)CCG>CTG	p.P257L		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	257	Arg-rich.										0						TCCATGAACCCGAGGGCCAGG	0.592000													11	457					0	0	0.146539	0	0
MAGI2	9863	broad.mit.edu	37	7	78131051	78131051	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:78131051G>T	uc003ugx.2	-	5	1062	c.808C>A	c.(808-810)CAG>AAG	p.Q270K	MAGI2_uc003ugy.2_Missense_Mutation_p.Q270K|MAGI2_uc011kgr.1_Missense_Mutation_p.Q102K|MAGI2_uc011kgs.1_Missense_Mutation_p.Q107K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	270	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATAAGGCTGGGAGGGCATC	0.502000													21	62					4.26978e-12	4.6056e-12	0.083992	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:140453136A>T	uc003vwc.3	-	15	1860	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				68	71					0	0	0.139131	0	0
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr7:148512600T>C	uc003wfd.1	-	13	1695	c.1529A>G	c.(1528-1530)AAG>AGG	p.K510R	EZH2_uc011kug.1_Missense_Mutation_p.K501R|EZH2_uc003wfb.1_Missense_Mutation_p.K515R|EZH2_uc003wfc.1_Missense_Mutation_p.K471R|EZH2_uc011kuh.1_Missense_Mutation_p.K501R	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368000			Mis		DLBCL								3	209					0	0	0.184627	0	0
OC90	729330	broad.mit.edu	37	8	133044208	133044208	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr8:133044208G>A	uc003ytg.2	-	11	951	c.951C>T	c.(949-951)TCC>TCT	p.S317S	OC90_uc011lix.1_Silent_p.S317S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	333	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCGGGCACCGGGATGTCAGAC	0.537000													50	81					0	0	0.139131	0	0
ZBED1	9189	broad.mit.edu	37	X	2406764	2406764	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:2406764T>C	uc004cqg.2	-	2	2198	c.1997A>G	c.(1996-1998)GAG>GGG	p.E666G	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E666G	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCCACTCCCCCTCGTC	0.647000													3	138					0	0	0.115264	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	G	G	rs145580328	byFrequency	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:37028425A>G	uc004ddl.1	+	1	1956	c.1942A>G	c.(1942-1944)AAT>GAT	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	648										ovary(3)	3						GGAGCCTCCCAATACTGGAGT	0.642000													4	89					0	0	0.184627	0	0
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	T	T			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:66937441C>T	uc004dwu.1	+	5	3410	c.2295C>T	c.(2293-2295)TTC>TTT	p.F765F	AR_uc004dwv.1_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	764	Ligand-binding.|Interaction with MYST2.		F -> L (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542000									Androgen_Insensitivity_Syndrome				20	3					0	0	0.116897	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	A	A			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chrX:140994960G>A	uc004fbt.2	+	4	2056	c.1770G>A	c.(1768-1770)CTG>CTA	p.L590L	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			7	336					0	0	0.029380	0	0
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr1:151773603delA	uc001ezf.1	-	2	1768	c.1578delT	c.(1576-1578)TTTfs	p.F526fs		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	276	---	---	---	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:864443_864445delCTG	uc001lsd.1	+	5	471_473	c.262_264delCTG	c.(262-264)CTGdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	92	Helical; (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													13	300	---	---	---	---					
Unknown	0	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr11:43283606delA	uc001mxe.1	-	2		c.1330delT								Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																		AAGCAAATGTAAAAAAAAAAA	0.388													3	3	---	---	---	---					
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	-	-	rs142692092	by1000genomes	TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.2	-	1	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)GGAGGGGCTGGTGGCTTTGGT>GGT	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	132_138	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						accaggaccaccaaagccaccagcccctccaaagccac	0.183													3	4	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr12:55615114_55615116delCTT	uc010spf.1	+	1	306_308	c.306_308delCTT	c.(304-309)TACTTC>TAC	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						CCCAGATGTACTTCTTCTTCTTC	0.414													7	267	---	---	---	---					
PIGN	23556	broad.mit.edu	37	18	59752471	59752471	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr18:59752471delA	uc002lii.3	-	27	2845	c.2397delT	c.(2395-2397)TTTfs	p.F799fs	PIGN_uc002lij.3_Frame_Shift_Del_p.F799fs	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	799	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TTCCAGTTCCAAAAAATGCTG	0.303													2	4	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr2:96992793_96992795delGAG	uc002svx.2	+	3	759_761	c.424_426delGAG	c.(424-426)GAGdel	p.E147del	ITPRIPL1_uc010yuk.1_In_Frame_Del_p.E139del|ITPRIPL1_uc002svy.2_In_Frame_Del_p.E155del|ITPRIPL1_uc010yul.1_In_Frame_Del_p.E139del	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	147	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	130	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:43647213delT	uc003cmv.2	-	2	303	c.132delA	c.(130-132)AAAfs	p.K44fs	ANO10_uc011azs.1_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.2_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.2_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.1_Frame_Shift_Del_p.K44fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	44	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						CACCTCCATCTTTTTTTTTAG	0.408													8	115	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-EB-A3HV-01A-11D-A21A-08	TCGA-EB-A3HV-10B-01D-A21A-08									Somatic	Phase_I	Capture				Illumina GAIIx	121bc196-0cbe-4456-a252-a7d09b6c2ecc	e48363b4-76d3-4c24-986c-ec9599c2bf94	g.chr3:53529193_53529195delGAT	uc003dgv.3	+	1					CACNA1D_uc003dgu.3_Translation_Start_Site|CACNA1D_uc003dgy.3_Translation_Start_Site	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.246													8	244	---	---	---	---					
