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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
MFN2	9927	broad.mit.edu	37	1	12065806	12065806	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:12065806C>G	uc001atn.3	+	15	1987	c.1534C>G	c.(1534-1536)CAG>GAG	p.Q512E	MFN2_uc009vni.2_Missense_Mutation_p.Q512E	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	512	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCGGAGTCAGATAGACAT	0.512		NaN											0	0	0	0.00361	0	78	287				
EYA3	2140	broad.mit.edu	37	1	28362171	28362171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28362171G>C	uc001bpi.1	-	6	410	c.245C>G	c.(244-246)TCA>TGA	p.S82*	EYA3_uc010ofs.1_Nonsense_Mutation_p.S29*|EYA3_uc010oft.1_Nonsense_Mutation_p.S82*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S82*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	82					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGGAACTGAGAGAATATG	0.398		NaN											0	0	0	0.001984	0	7	134				
PHACTR4	65979	broad.mit.edu	37	1	28817515	28817515	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28817515C>G	uc001bpw.2	+	11	2151	c.1869C>G	c.(1867-1869)CTC>CTG	p.L623L	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.L607L|PHACTR4_uc001bpy.2_Silent_p.L633L|PHACTR4_uc001bpz.2_5'Flank	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	623	RPEL 3.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AACGTCGGCTCACTAGAAAGG	0.333		NaN											0	0	0	0.004482	0	9	74				
KDM4A	9682	broad.mit.edu	37	1	44156655	44156655	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:44156655A>T	uc001cjx.2	+	14	2343	c.2177A>T	c.(2176-2178)TAT>TTT	p.Y726F	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	726	PHD-type 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TCTACTCCTTATCTTGAGGAG	0.532		NaN											0	0	0	0.00361	0	60	379				
DENND2C	163259	broad.mit.edu	37	1	115168392	115168392	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:115168392C>T	uc001efd.1	-	4	916	c.214G>A	c.(214-216)GAT>AAT	p.D72N	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D72N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	72										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTTACATCCAAGTTTTTG	0.363		NaN											0	0	0	0.003954	0	26	171				
FLG2	388698	broad.mit.edu	37	1	152323576	152323576	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152323576G>A	uc001ezw.3	-	3	6759	c.6686C>T	c.(6685-6687)ACC>ATC	p.T2229I	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2229							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTAGTGGTATCTCCTGT	0.527		NaN											0	0	0	0.00361	0	203	475				
FLG2	388698	broad.mit.edu	37	1	152325626	152325626	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152325626G>T	uc001ezw.3	-	3	4709	c.4636C>A	c.(4636-4638)CAG>AAG	p.Q1546K	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1546							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGTCTGTCCATGAGTA	0.483		NaN											1	0	7.82978e-24	0.00361	8.90638e-24	65	434				
PBXIP1	57326	broad.mit.edu	37	1	154920741	154920741	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154920741G>C	uc001ffr.2	-	6	570	c.511C>G	c.(511-513)CAG>GAG	p.Q171E	PBXIP1_uc001ffs.2_Missense_Mutation_p.Q142E|PBXIP1_uc010pep.1_Missense_Mutation_p.Q16E	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	171					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATGGGCTGAGGTGGGCCG	0.692		NaN											0	0	0	0.001168	0	5	13				
ZBTB7B	51043	broad.mit.edu	37	1	154988787	154988787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154988787G>A	uc001fgk.3	+	4	1404	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	ZBTB7B_uc009wpa.2_Missense_Mutation_p.D416N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D450N|ZBTB7B_uc010peq.1_Missense_Mutation_p.D450N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D416N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	416	C2H2-type 3.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCTACGACCTCAAGAA	0.627		NaN											0	0	0	0.008361	0	32	91				
DPM3	54344	broad.mit.edu	37	1	155112686	155112686	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:155112686G>A	uc001fhn.2	-	2	66	c.31C>T	c.(31-33)CTA>TTA	p.L11L	RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.L41L	NM_153741	NP_714963	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase	11	Helical; (Potential).				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATCGCTAGTCCCCAAAGC	0.478		NaN											0	0	0	0.002836	0	32	43				
PAPPA2	60676	broad.mit.edu	37	1	176525600	176525600	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:176525600G>A	uc001gkz.2	+	2	1306	c.142G>A	c.(142-144)GAA>AAA	p.E48K	PAPPA2_uc001gky.1_Missense_Mutation_p.E48K|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	48					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTTGGAAGGAGAACGTTGTTG	0.572		NaN											0	0	0	0.00308	0	7	152				
FAM5C	339479	broad.mit.edu	37	1	190068168	190068168	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:190068168C>T	uc001gse.1	-	8	1513	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T	FAM5C_uc010pot.1_Silent_p.T325T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	427						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CATTCGGACACGTGCACGAGT	0.587		NaN											0	0	0	0.000602	0	4	58				
TTC13	79573	broad.mit.edu	37	1	231060618	231060618	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:231060618C>G	uc001huf.3	-	14	1721	c.1690G>C	c.(1690-1692)GAC>CAC	p.D564H	TTC13_uc009xfi.2_Missense_Mutation_p.D511H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.D511H|TTC13_uc009xfk.1_Missense_Mutation_p.D454H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	564							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAAACATGTCTCTCCACTGC	0.423		NaN											0	0	0	0.007291	0	27	164				
SIPA1L2	57568	broad.mit.edu	37	1	232649719	232649719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:232649719G>C	uc001hvg.2	-	1	1525	c.1367C>G	c.(1366-1368)TCC>TGC	p.S456C		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAGACGGAGACACCTGC	0.498		NaN											0	0	0	0.005443	0	26	210				
FMN2	56776	broad.mit.edu	37	1	240370532	240370532	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:240370532T>C	uc010pyd.1	+	5	2645	c.2420T>C	c.(2419-2421)ATC>ACC	p.I807T	FMN2_uc010pye.1_Missense_Mutation_p.I811T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	807	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACAGAGCATCTCACAGCCT	0.527		NaN											0	0	0	0.000602	0	5	92				
ZNF695	57116	broad.mit.edu	37	1	247151507	247151507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:247151507C>A	uc009xgu.2	-	4	455	c.310G>T	c.(310-312)GTT>TTT	p.V104F	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.V104F|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.V92F	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	104					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAATGAAACTTGCAGGCCC	0.373		NaN											1	0	6.57855e-14	0.009718	7.33038e-14	45	111				
TUBAL3	79861	broad.mit.edu	37	10	5436157	5436157	+	Missense_Mutation	SNP	G	G	A	rs149499697	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:5436157G>A	uc001ihy.2	-	4	704	c.664C>T	c.(664-666)CGT>TGT	p.R222C	TUBAL3_uc001ihz.2_Missense_Mutation_p.R182C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	222					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CCGAGTTTACGATGGCATATA	0.522		NaN											0	0	0	0.001168	0	6	126				
STAM	8027	broad.mit.edu	37	10	17750829	17750829	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:17750829A>T	uc001ipj.1	+	13	1480	c.1264A>T	c.(1264-1266)ATG>TTG	p.M422L	STAM_uc009xjw.1_Missense_Mutation_p.M80L	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	422					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						GAACGCGCAGATGAGCCACCT	0.527		NaN											0	0	0	0.007835	0	41	103				
CUL2	8453	broad.mit.edu	37	10	35351949	35351949	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:35351949C>G	uc001ixv.2	-	3	371	c.161G>C	c.(160-162)GGA>GCA	p.G54A	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.G73A|CUL2_uc001ixw.2_Missense_Mutation_p.G54A|CUL2_uc010qes.1_Missense_Mutation_p.G54A	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	54					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						AAGTCTTTCTCCAAGGGGTTC	0.299		NaN											0	0	0	0.003163	0	14	123				
BMS1	9790	broad.mit.edu	37	10	43281092	43281092	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:43281092G>C	uc001jaj.2	+	3	697	c.339G>C	c.(337-339)GAG>GAC	p.E113D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	113					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGTTGACTGAGATCAGAGGCC	0.507		NaN											0	0	0	0.00632	0	26	259				
PRF1	5551	broad.mit.edu	37	10	72358024	72358024	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:72358024G>C	uc009xqg.2	-	3	1614	c.1453C>G	c.(1453-1455)CAG>GAG	p.Q485E	PRF1_uc001jrf.3_Missense_Mutation_p.Q485E	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	485	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CCAGAGTCCTGATCCCAGACC	0.582		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.00245	0	15	121				
PTEN	5728	broad.mit.edu	37	10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	rs121909227		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:89717615C>T	uc001kfb.2	+	8	1671	c.640C>T	c.(640-642)CAG>TAG	p.Q214*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q214*(8)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATCCTCAGTTTGTGGT	0.388		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	0.00361	0	72	55		Valid		
ADRA2A	150	broad.mit.edu	37	10	112838906	112838906	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:112838906G>A	uc001kzo.2	+	1	2117	c.1152G>A	c.(1150-1152)GAG>GAA	p.E384E		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	369	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	AGAACCGCGAGAAGCGCTTCA	0.667		NaN											0	0	0	0.010729	0	11	66				
IGSF22	283284	broad.mit.edu	37	11	18737135	18737135	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:18737135T>A	uc009yht.2	-	11	1565	c.1375A>T	c.(1375-1377)ATG>TTG	p.M459L	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	459	Ig-like 3.									ovary(4)|large_intestine(2)|kidney(1)	7						GTGCCATGCATCAGCAGCTGC	0.537		NaN											0	0	0	0.010729	0	12	78				
MPPED2	744	broad.mit.edu	37	11	30439147	30439147	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:30439147T>C	uc001msr.2	-	4	690	c.570A>G	c.(568-570)CTA>CTG	p.L190L	MPPED2_uc001msq.3_Silent_p.L190L|MPPED2_uc009yji.2_Silent_p.L64L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	190					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						GACCTCTGGGTAGGTTAAAGC	0.517		NaN											0	0	0	0.004672	0	3	37				
OR5L2	26338	broad.mit.edu	37	11	55595183	55595183	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:55595183T>C	uc001nhy.1	+	1	489	c.489T>C	c.(487-489)GCT>GCC	p.A163A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CGTCCTTAGCTCTTAGGATCC	0.473		NaN								HNSCC(27;0.073)			0	0	0	0.002299	0	23	475				
INTS5	80789	broad.mit.edu	37	11	62415419	62415419	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:62415419C>T	uc001nud.2	-	2	2186	c.2133G>A	c.(2131-2133)GGG>GGA	p.G711G	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	711					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						TCTCATTGTCCCCATCTACTT	0.557		NaN											0	0	0	0.001984	0	7	80				
NUDT22	84304	broad.mit.edu	37	11	63996776	63996776	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:63996776G>A	uc001nyp.3	+	4	817	c.637G>A	c.(637-639)GAG>AAG	p.E213K	NUDT22_uc009ype.2_Missense_Mutation_p.E213K|NUDT22_uc001nyq.3_Missense_Mutation_p.E180K|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety	213	Nudix hydrolase.						hydrolase activity				0						CGCCCGAAATGAGACCAGTGC	0.632		NaN											0	0	0	0.004672	0	3	11				
SPDYC	387778	broad.mit.edu	37	11	64939959	64939959	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:64939959T>C	uc010rnz.1	+	5	399	c.399T>C	c.(397-399)TTT>TTC	p.F133F		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	133	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0						GTGAGATTTTTCCATGGGCCC	0.557		NaN											0	0	0	0.00245	0	13	143				
LTBP3	4054	broad.mit.edu	37	11	65315511	65315511	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315511C>A	uc001oej.2	-	12	1995	c.1726G>T	c.(1726-1728)GAT>TAT	p.D576Y	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.D6Y|LTBP3_uc010roi.1_Missense_Mutation_p.D459Y|LTBP3_uc001oei.2_Missense_Mutation_p.D576Y|LTBP3_uc010roj.1_Missense_Mutation_p.D277Y|LTBP3_uc010rok.1_Missense_Mutation_p.D487Y	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	576	EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGGCACTCATCAGTCTCTGCG	0.637		NaN											1	0	3.59834e-05	0.001168	3.73515e-05	5	80				
LTBP3	4054	broad.mit.edu	37	11	65315517	65315517	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315517C>T	uc001oej.2	-	12	1990	c.1721_splice	c.e12-1	p.E574_splice	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.E4K|LTBP3_uc010roi.1_Splice_Site_p.E457_splice|LTBP3_uc001oei.2_Splice_Site_p.E574_splice|LTBP3_uc010roj.1_Splice_Site_p.E275_splice|LTBP3_uc010rok.1_Splice_Site_p.E485_splice	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding							extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TCATCAGTCTCTGCGGGCATG	0.637		NaN											0	0	0	0.001168	0	5	80				
SHANK2	22941	broad.mit.edu	37	11	70319061	70319061	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:70319061C>G	uc001oqc.2	-	22	5541	c.5463G>C	c.(5461-5463)CAG>CAC	p.Q1821H	SHANK2_uc010rqn.1_Missense_Mutation_p.Q1233H|SHANK2_uc001opz.2_Missense_Mutation_p.Q1226H|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.Q157H	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1442	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCCTCCTTCTGCAGGTTTG	0.493		NaN											0	0	0	0.00278	0	21	448				
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:74500681C>G	uc001ovl.3	+	2	526	c.513C>G	c.(511-513)TTC>TTG	p.F171L		NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	171							zinc ion binding			ovary(1)	1						ACTTTATATTCAGAGCACCAA	0.343		NaN											0	0	0	0.004007	0	14	228				
MTMR2	8898	broad.mit.edu	37	11	95568599	95568599	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:95568599C>G	uc001pfu.2	-	15	2040	c.1787G>C	c.(1786-1788)AGA>ACA	p.R596T	MTMR2_uc001pfv.2_Missense_Mutation_p.R524T|MTMR2_uc001pfs.2_Missense_Mutation_p.R524T|MTMR2_uc001pft.2_Missense_Mutation_p.R524T	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	596						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGTATCTGTTGTGAAT	0.408		NaN											0	0	0	0.006214	0	9	128				
TECTA	7007	broad.mit.edu	37	11	120996394	120996394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:120996394G>C	uc010rzo.1	+	7	1587	c.1587G>C	c.(1585-1587)AAG>AAC	p.K529N		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	529	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCAACAAGACAGACGGCC	0.597		NaN											0	0	0	0.002836	0	29	189				
SNX19	399979	broad.mit.edu	37	11	130785020	130785020	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:130785020C>G	uc001qgk.3	-	1	1363	c.815G>C	c.(814-816)AGA>ACA	p.R272T	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R272T|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	272	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGCTGGATCTCTGGCCTTGGA	0.547		NaN											0	0	0	0.010504	0	20	118				
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:5153719G>A	uc001qni.2	+	1	635	c.406G>A	c.(406-408)GGC>AGC	p.G136S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	136						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACGCAGCTGGGCACCCTGGC	0.677		NaN											0	0	0	0.001855	0	14	66				
VWF	7450	broad.mit.edu	37	12	6078463	6078463	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:6078463G>C	uc001qnn.1	-	45	7893	c.7643C>G	c.(7642-7644)TCC>TGC	p.S2548C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2548					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGGGGGCAGGAGACGTTCCT	0.607		NaN											0	0	0	0.001168	0	6	84				
CD163	9332	broad.mit.edu	37	12	7635996	7635996	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:7635996C>T	uc001qsz.3	-	12	3183	c.3055G>A	c.(3055-3057)GGG>AGG	p.G1019R	CD163_uc001qta.3_Missense_Mutation_p.G1019R|CD163_uc009zfw.2_Missense_Mutation_p.G1052R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1019	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TCCTTGTGCCCACACTCACTA	0.537		NaN											0	0	0	0.00308	0	7	56				
SLCO1A2	6579	broad.mit.edu	37	12	21427510	21427510	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:21427510A>C	uc001rer.2	-	13	1937	c.1686T>G	c.(1684-1686)CCT>CCG	p.P562P	SLCO1A2_uc001res.2_Silent_p.P562P|SLCO1A2_uc010siq.1_Silent_p.P430P|SLCO1A2_uc010sio.1_Silent_p.P430P|SLCO1A2_uc010sip.1_Silent_p.P430P	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	562	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ATATAGGTGCAGGAATGCCAG	0.363		NaN											0	0	0	0.006122	0	15	140				
SYT10	341359	broad.mit.edu	37	12	33579134	33579134	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:33579134C>G	uc001rll.1	-	2	745	c.448G>C	c.(448-450)GAA>CAA	p.E150Q	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	150	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTAAATGTTCTTTTAAAGCA	0.363		NaN											0	0	0	0.003755	0	34	317				
AMIGO2	347902	broad.mit.edu	37	12	47471606	47471606	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:47471606C>G	uc001rpm.2	-	3	1835	c.1180G>C	c.(1180-1182)GAG>CAG	p.E394Q	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.E394Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.E394Q	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	394	Extracellular (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TTAAATGCCTCATGAGCATGG	0.428		NaN											0	0	0	0.010729	0	12	63				
FMNL3	91010	broad.mit.edu	37	12	50044479	50044479	+	Silent	SNP	C	C	T	rs118114169	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:50044479C>T	uc001ruv.1	-	17	2214	c.1980G>A	c.(1978-1980)GAG>GAA	p.E660E	FMNL3_uc001ruw.1_Silent_p.E609E|FMNL3_uc001rut.1_Silent_p.E226E|FMNL3_uc001ruu.1_Silent_p.E510E	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	660	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						CCCTGCAGATCTCCTCAGCCG	0.592		NaN											0	0	0	0.000602	0	5	97				
SBNO1	55206	broad.mit.edu	37	12	123815804	123815804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:123815804C>G	uc010tap.1	-	7	1028	c.1028G>C	c.(1027-1029)AGA>ACA	p.R343T	SBNO1_uc010tao.1_Missense_Mutation_p.R342T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R343T|SBNO1_uc001ueu.2_Missense_Mutation_p.R342T|SBNO1_uc001uev.2_Missense_Mutation_p.R341T|SBNO1_uc009zxy.1_Missense_Mutation_p.R308T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	343							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGCTCGTTTTCTACTCAACAA	0.289		NaN											0	0	0	0.00308	0	6	127				
SACS	26278	broad.mit.edu	37	13	23913766	23913766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:23913766C>T	uc001uon.2	-	10	4838	c.4249G>A	c.(4249-4251)GAA>AAA	p.E1417K	SACS_uc001uoo.2_Missense_Mutation_p.E1270K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1417					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATTGGTTCCACAGAATCT	0.368		NaN											0	0	0	0.004007	0	16	107				
NAA16	79612	broad.mit.edu	37	13	41946363	41946363	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:41946363G>A	uc001uyf.2	+	16	2296	c.1972G>A	c.(1972-1974)GTT>ATT	p.V658I	NAA16_uc010tfg.1_Intron	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	658					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						AGAGGAAGCCGTTAAGTTCCT	0.279		NaN											0	0	0	0.00361	0	62	34				
LRP10	26020	broad.mit.edu	37	14	23344898	23344898	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23344898G>A	uc001whd.2	+	5	1294	c.741G>A	c.(739-741)GTG>GTA	p.V247V	LRP10_uc001whe.2_Silent_p.V123V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	247	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGATGCAGTGCATGTGTATG	0.627		NaN											0	0	0	0.010729	0	11	80				
ACIN1	22985	broad.mit.edu	37	14	23548778	23548778	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23548778G>A	uc001wit.3	-	6	2268	c.1940C>T	c.(1939-1941)TCA>TTA	p.S647L	ACIN1_uc001wis.3_Missense_Mutation_p.S329L|ACIN1_uc010akg.2_Missense_Mutation_p.S647L|ACIN1_uc010tnj.1_Missense_Mutation_p.S607L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	647	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCTTGATGCTGAACGAGAACG	0.498		NaN											0	0	0	0.00361	0	54	582				
NYNRIN	57523	broad.mit.edu	37	14	24878129	24878129	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:24878129C>T	uc001wpf.3	+	4	1447	c.1129C>T	c.(1129-1131)CTA>TTA	p.L377L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	377					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GCTGCATTCTCTACATCTGGC	0.602		NaN											0	0	0	0.008291	0	11	27				
FANCM	57697	broad.mit.edu	37	14	45658163	45658163	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:45658163A>C	uc001wwd.3	+	20	5037	c.4938A>C	c.(4936-4938)GCA>GCC	p.A1646A	FANCM_uc010anf.2_Silent_p.A1620A|FANCM_uc001wwe.3_Silent_p.A1182A|FANCM_uc010ang.2_Silent_p.A860A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1646					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CTCGACGTGCAGTAATGCTAA	0.318		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.008871	0	19	82				
PSMC6	5706	broad.mit.edu	37	14	53190725	53190725	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:53190725C>G	uc010tqx.1	+	13	1064	c.1064C>G	c.(1063-1065)GCA>GGA	p.A355G	PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					TTTAATGGAGCAGATCTGAGA	0.279		NaN											0	0	0	0.001984	0	7	97				
RTN1	6252	broad.mit.edu	37	14	60193839	60193839	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:60193839G>T	uc001xen.1	-	3	1772	c.1563C>A	c.(1561-1563)TCC>TCA	p.S521S	RTN1_uc001xem.1_Silent_p.S101S	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	521					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGTCGAGGAAGGAACCCGGCT	0.721		NaN											1	0	0.004672	0.004672	0.00475916	3	8				
COX16	51241	broad.mit.edu	37	14	70793096	70793096	+	Missense_Mutation	SNP	A	A	C	rs139121123		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:70793096A>C	uc001xmb.2	-	4	415	c.275T>G	c.(274-276)CTC>CGC	p.L92R		NM_016468	NP_057552	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog	92						integral to membrane|mitochondrial membrane					0						TCCTTGGAGGAGGTCAGGATC	0.328		NaN											0	0	0	0.009096	0	4	45				
NRXN3	9369	broad.mit.edu	37	14	79432421	79432421	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:79432421A>G	uc001xun.2	+	9	1821	c.1330A>G	c.(1330-1332)ATC>GTC	p.I444V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.I569V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	817	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAAACGGGAATCATGACTGA	0.433		NaN											0	0	0	0.00361	0	53	37				
FLRT2	23768	broad.mit.edu	37	14	86088385	86088385	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:86088385T>C	uc001xvr.2	+	2	1294	c.527T>C	c.(526-528)GTT>GCT	p.V176A	FLRT2_uc010atd.2_Missense_Mutation_p.V176A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	176	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGCCTGTTGGGCTTCCT	0.502		NaN											0	0	0	0.013114	0	48	58				
WDR20	91833	broad.mit.edu	37	14	102675837	102675837	+	Missense_Mutation	SNP	G	G	T	rs12888595	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:102675837G>T	uc001ykz.2	+	3	1379	c.1330G>T	c.(1330-1332)GGC>TGC	p.G444C	WDR20_uc001yky.1_Missense_Mutation_p.G187C|WDR20_uc001yla.2_Missense_Mutation_p.G320C|WDR20_uc001ylb.2_Missense_Mutation_p.G383C|WDR20_uc010txu.1_Missense_Mutation_p.G475C|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G444C|WDR20_uc001yle.2_Missense_Mutation_p.G383C|WDR20_uc001ylf.2_Missense_Mutation_p.G456C	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	444											0						CTCAAATGCTGGCAGCAAAAG	0.537		NaN									OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.59834e-05	0.001168	3.73515e-05	6	104				
AHNAK2	113146	broad.mit.edu	37	14	105408168	105408168	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:105408168G>A	uc010axc.1	-	7	13740	c.13620C>T	c.(13618-13620)GCC>GCT	p.A4540A	AHNAK2_uc001ypx.2_Silent_p.A4440A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4540						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGAGGCCGGCTACCTCGG	0.632		NaN											0	0	0	0.00361	0	53	174				
APBA2	321	broad.mit.edu	37	15	29346684	29346684	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:29346684G>A	uc001zck.2	+	3	804	c.597G>A	c.(595-597)GAG>GAA	p.E199E	APBA2_uc010azj.2_Silent_p.E199E|APBA2_uc010uat.1_Silent_p.E199E|APBA2_uc001zcl.2_Silent_p.E199E|APBA2_uc010uas.1_Silent_p.E199E	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	199	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACTACCCCGAGGAGGCCAACG	0.627		NaN											0	0	0	0.001168	0	6	23				
CASC5	57082	broad.mit.edu	37	15	40916744	40916744	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:40916744G>C	uc010bbs.1	+	11	4521	c.4360G>C	c.(4360-4362)GAT>CAT	p.D1454H	CASC5_uc010ucq.1_Missense_Mutation_p.D1278H|CASC5_uc001zme.2_Missense_Mutation_p.D1428H|CASC5_uc010bbt.1_Missense_Mutation_p.D1428H	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1454					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCTTCCAAAGGATCAAATGAA	0.358		NaN											0	0	0	0.004482	0	7	144				
RAD51	5888	broad.mit.edu	37	15	41020994	41020994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:41020994C>G	uc001zmi.3	+	7	915	c.616C>G	c.(616-618)CAA>GAA	p.Q206E	RAD51_uc010bbw.2_Missense_Mutation_p.Q206E|RAD51_uc010bbx.2_Missense_Mutation_p.Q207E|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.Q207E	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	206	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTCCTTTATCAAGCATCAGC	0.443		NaN						Homologous_recombination					0	0	0	0.004878	0	34	199				
MGA	23269	broad.mit.edu	37	15	42054514	42054514	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:42054514G>A	uc010ucy.1	+	22	7879	c.7698G>A	c.(7696-7698)AGG>AGA	p.R2566R	MGA_uc010ucz.1_Silent_p.R2357R|MGA_uc010uda.1_Silent_p.R1182R	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2527						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAATAACAGGAGGGGGAAAC	0.403		NaN											0	0	0	0.00245	0	15	64				
AQP9	366	broad.mit.edu	37	15	58465375	58465375	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:58465375G>A	uc002aez.2	+	3	704	c.347G>A	c.(346-348)GGG>GAG	p.G116E	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G51E	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	116	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		GCCTTTGTGGGGGCTGCAACC	0.453		NaN											0	0	0	0.002836	0	34	158				
ZNF609	23060	broad.mit.edu	37	15	64968122	64968122	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:64968122G>A	uc002ann.2	+	4	3069	c.3069G>A	c.(3067-3069)AAG>AAA	p.K1023K		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1023						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GAGTGGACAAGAAGGCAGAGA	0.577		NaN											0	0	0	0.002299	0	24	132				
SCAPER	49855	broad.mit.edu	37	15	76995194	76995194	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:76995194G>A	uc002bby.2	-	18	2456	c.2397C>T	c.(2395-2397)GTC>GTT	p.V799V	SCAPER_uc010bkr.2_Silent_p.V107V|SCAPER_uc002bbx.2_Silent_p.V553V|SCAPER_uc002bbz.1_Silent_p.V670V|SCAPER_uc002bca.1_Silent_p.V664V|SCAPER_uc002bcb.1_Silent_p.V805V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	798	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AACCTACCAGGACATTGCAGA	0.368		NaN											0	0	0	0.001168	0	6	131				
IREB2	3658	broad.mit.edu	37	15	78790483	78790483	+	Nonstop_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:78790483T>C	uc002bdr.2	+	22	3052	c.2890T>C	c.(2890-2892)TAG>CAG	p.*964Q	IREB2_uc010unb.1_Nonstop_Mutation_p.*714Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	964							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAAATTCTCATAGTATCTACT	0.388		NaN											0	0	0	0.006214	0	10	66				
NTRK3	4916	broad.mit.edu	37	15	88670429	88670429	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:88670429G>A	uc002bme.1	-	11	1419	c.1257C>T	c.(1255-1257)ATC>ATT	p.I419I	NTRK3_uc002bmh.2_Silent_p.I411I|NTRK3_uc002bmf.1_Silent_p.I419I|NTRK3_uc010upl.1_Silent_p.I321I|NTRK3_uc010bnh.1_Silent_p.I411I|NTRK3_uc002bmg.2_Silent_p.I419I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	419	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCACAGTGATAGGAGGTG	0.498		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.001168	0	4	28				
TMEM8A	58986	broad.mit.edu	37	16	427570	427570	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:427570G>A	uc002cgu.3	-	3	444	c.315C>T	c.(313-315)GGC>GGT	p.G105G	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	105	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CCGGAGGGGCGCCGGAACGGA	0.711		NaN											0	0	0	0.009096	0	4	5				
MMP2	4313	broad.mit.edu	37	16	55539318	55539318	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:55539318G>T	uc002ehz.3	+	13	2258	c.1947G>T	c.(1945-1947)AAG>AAT	p.K649N	MMP2_uc010vhd.1_Missense_Mutation_p.K573N|MMP2_uc010ccc.2_Missense_Mutation_p.K599N|MMP2_uc002eia.3_Missense_Mutation_p.K146N	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	649	Required for inhibitor TIMP2 binding.|Hemopexin-like 4.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGAGCGTGAAGTTTGGAAGCA	0.552		NaN											1	0	3.5997e-14	0.002299	4.02753e-14	21	165				
ADAMTS18	170692	broad.mit.edu	37	16	77465452	77465452	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:77465452C>G	uc002ffc.3	-	3	654	c.235G>C	c.(235-237)GAC>CAC	p.D79H	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	79					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGCAAAATGTCGTGTGAAATA	0.488		NaN											0	0	0	0.00361	0	125	303				
ATMIN	23300	broad.mit.edu	37	16	81077964	81077964	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:81077964G>C	uc002ffz.1	+	4	1879	c.1861G>C	c.(1861-1863)GAC>CAC	p.D621H	ATMIN_uc002fga.2_Missense_Mutation_p.D463H|ATMIN_uc010vnn.1_Missense_Mutation_p.D392H|ATMIN_uc002fgb.1_Missense_Mutation_p.D463H	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	621					response to DNA damage stimulus	nucleus	zinc ion binding				0						TCCTGGACCTGACACCCAGCT	0.443		NaN											0	0	0	0.001168	0	4	59				
TRPV3	162514	broad.mit.edu	37	17	3438937	3438937	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:3438937G>A	uc002fvt.1	-	7	1036	c.714C>T	c.(712-714)GGC>GGT	p.G238G	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.G222G|TRPV3_uc010vri.1_Silent_p.G193G|TRPV3_uc010vrj.1_Silent_p.G222G|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.G222G|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.G238G|TRPV3_uc002fvu.2_Silent_p.G238G	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	238	Cytoplasmic (Potential).|ANK 1.					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGACGTCGGCGCCGGCGGCGA	0.721		NaN											0	0	0	0.001168	0	5	21				
KIAA0100	9703	broad.mit.edu	37	17	26962026	26962026	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:26962026G>A	uc002hbu.2	-	16	2678	c.2579C>T	c.(2578-2580)TCT>TTT	p.S860F		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	860						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGGGCTTGGAGAGGCCCAAGC	0.468		NaN											0	0	0	0.00361	0	127	289				
NF1	4763	broad.mit.edu	37	17	29554622	29554622	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29554622C>G	uc002hgg.2	+	20	2740	c.2407C>G	c.(2407-2409)CAG>GAG	p.Q803E	NF1_uc002hgh.2_Missense_Mutation_p.Q803E|NF1_uc010csn.1_Missense_Mutation_p.Q663E|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	803					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAGATGGCCAGGTAAGTCT	0.353		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.001168	0	6	107		Valid		
NF1	4763	broad.mit.edu	37	17	29664524	29664524	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29664524C>G	uc002hgg.2	+	43	6899	c.6566C>G	c.(6565-6567)CCT>CGT	p.P2189R	NF1_uc002hgh.2_Missense_Mutation_p.P2168R|NF1_uc010cso.2_Missense_Mutation_p.P377R|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2189					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTCTCTCCTGGCTCCTAT	0.433		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.00499	0	17	197		Valid		
TAF15	8148	broad.mit.edu	37	17	34149829	34149829	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34149829A>G	uc002hkd.2	+	6	562	c.476A>G	c.(475-477)CAC>CGC	p.H159R	TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.H156R	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	159	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGCCACCACACACAAGGT	0.378		NaN	T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								0	0	0	0.00245	0	12	160				
ACACA	31	broad.mit.edu	37	17	35486362	35486362	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:35486362C>G	uc002hnm.2	-	47	5953	c.5762G>C	c.(5761-5763)AGA>ACA	p.R1921T	ACACA_uc002hnk.2_Missense_Mutation_p.R1843T|ACACA_uc002hnl.2_Missense_Mutation_p.R1863T|ACACA_uc002hnn.2_Missense_Mutation_p.R1921T|ACACA_uc002hno.2_Missense_Mutation_p.R1958T|ACACA_uc010cuy.2_Missense_Mutation_p.R566T|ACACA_uc010wdc.1_Missense_Mutation_p.R47T	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1921	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCGATGATTCTGTCTATAGG	0.478		NaN											0	0	0	0.001984	0	7	67				
MLLT6	4302	broad.mit.edu	37	17	36876912	36876912	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:36876912C>G	uc002hqi.3	+	16	2367	c.2354C>G	c.(2353-2355)GCC>GGC	p.A785G	MLLT6_uc002hqj.2_Missense_Mutation_p.A220G|MLLT6_uc002hqk.3_Missense_Mutation_p.A116G	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	785					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCTCCCACAGCCGGCAGCAGC	0.667		NaN	T	MLL	AL								0	0	0	0.00308	0	7	111				
CCR7	1236	broad.mit.edu	37	17	38711197	38711197	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38711197A>G	uc002huw.2	-	3	997	c.934T>C	c.(934-936)TAC>CAC	p.Y312H		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	312	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				GCCAGGCTGTAGGTGACGTCG	0.567		NaN											0	0	0	0.00245	0	13	122				
SMARCE1	6605	broad.mit.edu	37	17	38788611	38788611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38788611C>T	uc002hux.2	-	8	674	c.550G>A	c.(550-552)GAT>AAT	p.D184N	SMARCE1_uc010wff.1_Missense_Mutation_p.D149N|SMARCE1_uc010wfg.1_Missense_Mutation_p.D114N|SMARCE1_uc002huy.2_Missense_Mutation_p.D149N|SMARCE1_uc010wfh.1_Missense_Mutation_p.D114N|SMARCE1_uc010wfi.1_Missense_Mutation_p.D166N	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	184					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				GAAAAGCCATCATCATAATCT	0.433		NaN											0	0	0	0.004878	0	35	67				
TMEM99	147184	broad.mit.edu	37	17	38991162	38991162	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38991162C>G	uc002hvj.1	+	3	701	c.394C>G	c.(394-396)CAC>GAC	p.H132D		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	132						integral to membrane				skin(1)	1		Breast(137;0.000301)				TCAAGGGTCTCACGTTGCAGC	0.512		NaN											0	0	0	0.003163	0	16	269				
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:39274518C>T	uc002hvz.2	-	1	89	c.50G>A	c.(49-51)CGA>CAA	p.R17Q		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592		NaN											0	0	0	0.001168	0	5	69				
CDC27	996	broad.mit.edu	37	17	45214642	45214642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45214642C>G	uc002ild.3	-	14	1916	c.1789G>C	c.(1789-1791)GAT>CAT	p.D597H	CDC27_uc002ile.3_Missense_Mutation_p.D603H|CDC27_uc002ilf.3_Missense_Mutation_p.D596H|CDC27_uc010wkp.1_Missense_Mutation_p.D536H|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	597	TPR 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TAATTTGGATCAACTTGGATA	0.393		NaN											0	0	0	0.00308	0	7	64				
USP32	84669	broad.mit.edu	37	17	58372085	58372085	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:58372085C>T	uc002iyo.1	-	4	656	c.370G>A	c.(370-372)GAT>AAT	p.D124N	USP32_uc010wov.1_Missense_Mutation_p.D124N	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	124	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTTTACCATCCACCACGTGG	0.338		NaN											0	0	0	0.001368	0	12	100				
EFCAB3	146779	broad.mit.edu	37	17	60493466	60493466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:60493466G>C	uc002izu.1	+	10	1171	c.1093G>C	c.(1093-1095)GAC>CAC	p.D365H	EFCAB3_uc010wpc.1_Missense_Mutation_p.D417H	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	365							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GATTGGGATGGACTCTAGAAA	0.398		NaN											0	0	0	0.006122	0	17	120				
RECQL5	9400	broad.mit.edu	37	17	73625043	73625043	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:73625043C>A	uc010dgl.2	-	16	2616	c.2460G>T	c.(2458-2460)CAG>CAT	p.Q820H	RECQL5_uc010dgk.2_Missense_Mutation_p.Q793H|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	820					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTCCTCAGTCTGGGGAGGGG	0.617		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					1	0	2.17888e-05	0.006214	2.27906e-05	8	89				
PGS1	9489	broad.mit.edu	37	17	76411074	76411074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:76411074C>G	uc002jvm.2	+	8	1529	c.1517C>G	c.(1516-1518)ACG>AGG	p.T506R	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.T219R|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.T219R	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	506					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCGATCGTGACGGAGAACCAG	0.632		NaN											0	0	0	0.006214	0	9	70				
ASXL3	80816	broad.mit.edu	37	18	31326430	31326430	+	Silent	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:31326430A>T	uc010dmg.1	+	12	6673	c.6618A>T	c.(6616-6618)GCA>GCT	p.A2206A	ASXL3_uc002kxq.2_Silent_p.A1913A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GCAGCAATGCAGATGAATTGG	0.517		NaN											0	0	0	0.001168	0	5	77				
SYT4	6860	broad.mit.edu	37	18	40851688	40851688	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:40851688G>C	uc002law.2	-	3	1328	c.959C>G	c.(958-960)TCC>TGC	p.S320C	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.S302C|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TGAAAGTCCGGACACATCAGA	0.423		NaN											0	0	0	0.003163	0	13	99				
HMHA1	23526	broad.mit.edu	37	19	1080305	1080305	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1080305G>A	uc002lqz.1	+	14	1986	c.1755G>A	c.(1753-1755)GCG>GCA	p.A585A	HMHA1_uc010xgd.1_Silent_p.A601A|HMHA1_uc010xge.1_Silent_p.A425A|HMHA1_uc002lra.1_Silent_p.A425A|HMHA1_uc002lrb.1_Silent_p.A468A|HMHA1_uc002lrc.1_Silent_p.A220A|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGTGGCGCGGCCGGAGG	0.677		NaN											0	0	0	0.007291	0	29	111				
REXO1	57455	broad.mit.edu	37	19	1817224	1817224	+	Silent	SNP	G	G	A	rs141798167		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1817224G>A	uc002lua.3	-	12	3290	c.3195C>T	c.(3193-3195)TGC>TGT	p.C1065C	REXO1_uc010dsq.2_Silent_p.C374C|REXO1_uc010xgs.1_Silent_p.C51C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1065	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCATCTCGCAGTCCAGGG	0.647		NaN											0	0	0	0.005443	0	21	35				
SLC39A3	29985	broad.mit.edu	37	19	2733469	2733469	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:2733469C>G	uc002lwg.2	-	3	479	c.225G>C	c.(223-225)CTG>CTC	p.L75L	SLC39A3_uc010xgy.1_Silent_p.L75L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGGCTCAGGACCTTCT	0.632		NaN											0	0	0	0.00308	0	7	84				
DOCK6	57572	broad.mit.edu	37	19	11313296	11313296	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11313296C>T	uc002mqs.3	-	42	5366	c.5325G>A	c.(5323-5325)TCG>TCA	p.S1775S	DOCK6_uc002mqr.3_Silent_p.S175S|DOCK6_uc010xlq.1_Silent_p.S1114S	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1775	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCTTCGTGATCGATGGCTCCT	0.632		NaN											0	0	0	0.00278	0	19	251				
RGL3	57139	broad.mit.edu	37	19	11527337	11527337	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11527337C>G	uc002mrp.2	-	4	440	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_Splice_Site|RGL3_uc002mro.2_Missense_Mutation_p.E126Q|RGL3_uc002mrq.2_3'UTR	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	126	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						TTCTTGATCTCTACCCTGGGA	0.572		NaN											0	0	0	0.001984	0	6	115				
ANKLE1	126549	broad.mit.edu	37	19	17394183	17394183	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394183G>T	uc002nga.2	+	5	886	c.610G>T	c.(610-612)GGG>TGG	p.G204W	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.G226W|ANKLE1_uc010xpn.1_Missense_Mutation_p.G258W|ANKLE1_uc002nfy.2_Missense_Mutation_p.G193W|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	204						nuclear envelope					0						GGACAAACATGGGAGCTCGGC	0.607		NaN											1	0	2.4624e-09	0.008871	2.6676e-09	20	130				
ANKLE1	126549	broad.mit.edu	37	19	17394264	17394264	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394264G>C	uc002nga.2	+	5	967	c.691G>C	c.(691-693)GAG>CAG	p.E231Q	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.E253Q|ANKLE1_uc010xpn.1_Missense_Mutation_p.E285Q|ANKLE1_uc002nfy.2_Missense_Mutation_p.E220Q|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	231						nuclear envelope					0						CTCTGGAGCTGAGGACCCAGC	0.607		NaN											0	0	0	0.003163	0	14	98				
ZNF43	7594	broad.mit.edu	37	19	21991453	21991453	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:21991453G>C	uc002nqj.2	-	4	1516	c.1386C>G	c.(1384-1386)GCC>GCG	p.A462A	ZNF43_uc010ecv.2_Silent_p.A456A|ZNF43_uc002nql.2_Silent_p.A456A|ZNF43_uc002nqm.2_Silent_p.A456A|ZNF43_uc002nqk.2_Silent_p.A392A	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	462	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACTGGTTAAAGGCTTTGCCAC	0.398		NaN											0	0	0	0.004482	0	9	81				
FBXO27	126433	broad.mit.edu	37	19	39516075	39516075	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:39516075C>T	uc002okh.2	-	6	910	c.828G>A	c.(826-828)GTG>GTA	p.V276V		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	276	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCGCACGATCACACTGGAGT	0.587		NaN											0	0	0	0.006214	0	8	143				
ITPKC	80271	broad.mit.edu	37	19	41239168	41239168	+	Missense_Mutation	SNP	G	G	A	rs144541337		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:41239168G>A	uc002oot.2	+	4	1606	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	525						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCTACCCCTGAGGAGCATGC	0.612		NaN											0	0	0	0.00308	0	8	71				
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:44740795C>A	uc002oyu.2	+	6	2417	c.2212C>A	c.(2212-2214)CAC>AAC	p.H738N	ZNF227_uc010xwu.1_Missense_Mutation_p.H687N|ZNF227_uc002oyv.2_Missense_Mutation_p.H738N|ZNF227_uc010xwv.1_Missense_Mutation_p.H687N|ZNF227_uc010xww.1_Missense_Mutation_p.H659N|ZNF227_uc002oyw.2_Missense_Mutation_p.H710N|ZNF227_uc010ejh.2_Missense_Mutation_p.H731N|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498		NaN											1	0	1.15088e-07	0.004007	1.23697e-07	15	146				
DMPK	1760	broad.mit.edu	37	19	46278206	46278206	+	Splice_Site	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46278206C>G	uc002pdd.1	-	8	1806	c.1262_splice	c.e8+1	p.R421_splice	DMPK_uc010xxs.1_Splice_Site_p.R322_splice|DMPK_uc002pde.1_Splice_Site_p.R416_splice|DMPK_uc002pdf.1_Splice_Site_p.R411_splice|DMPK_uc002pdg.1_Splice_Site_p.R406_splice|DMPK_uc002pdh.1_Splice_Site_p.R406_splice|DMPK_uc002pdi.1_Splice_Site_p.R437_splice|DMPK_uc010xxt.1_Splice_Site_p.R406_splice	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1						regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAGTGCTTACCTGAGGGCCA	0.612		NaN											0	0	0	0.009096	0	4	56				
FOXA3	3171	broad.mit.edu	37	19	46375619	46375619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46375619C>T	uc002pdr.2	+	2	553	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	119	Fork-head.				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCAAGCCACCGTATTCCTAT	0.627		NaN											0	0	0	0.003163	0	15	127				
C19orf48	84798	broad.mit.edu	37	19	51301447	51301447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:51301447C>T	uc002ptf.2	-	5	1181	c.259G>A	c.(259-261)GAG>AAG	p.E87K	C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.E87K	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	87										ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCAGGTCTCACGGTGGCGT	0.642		NaN											0	0	0	0.003163	0	16	115				
ZNF841	284371	broad.mit.edu	37	19	52570184	52570184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:52570184G>C	uc002pyl.1	-	5	1155	c.603C>G	c.(601-603)TAC>TAG	p.Y201*	ZNF841_uc010ydh.1_Nonsense_Mutation_p.Y317*|ZNF841_uc010epk.1_Nonsense_Mutation_p.Y201*	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	201	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATCACATTGGTATGGTTTCC	0.418		NaN											0	0	0	0.001168	0	6	44				
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:53854397G>C	uc010ydv.1	+	4	586	c.469G>C	c.(469-471)GAA>CAA	p.E157Q	ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCAGACCGAAGGGAAAAT	0.408		NaN											0	0	0	0.006214	0	9	211				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56171880A>C	uc002qlu.2	+	4	1286	c.231_splice	c.e4-2	p.I77_splice	U2AF2_uc002qlt.2_Splice_Site_p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637		NaN											0	0	0	0.001168	0	4	22				
NLRP5	126206	broad.mit.edu	37	19	56539147	56539147	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56539147C>T	uc002qmj.2	+	7	1548	c.1548C>T	c.(1546-1548)GTC>GTT	p.V516V	NLRP5_uc002qmi.2_Silent_p.V497V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	516	NACHT.					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)		GAGGCGTGGTCCGGCGCTGTC	0.592		NaN											0	0	0	0.00308	0	8	29				
ZNF132	7691	broad.mit.edu	37	19	58946488	58946488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:58946488G>A	uc002qst.3	-	3	724	c.323C>T	c.(322-324)CCT>CTT	p.P108L		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	108	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTTGGTGGAAGGATCTGCATT	0.498		NaN											0	0	0	0.008361	0	27	210				
ASAP2	8853	broad.mit.edu	37	2	9498900	9498900	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:9498900C>A	uc002qzh.2	+	15	1683	c.1343C>A	c.(1342-1344)TCC>TAC	p.S448Y	ASAP2_uc002qzi.2_Missense_Mutation_p.S448Y	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	448	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						ACATGGCTTTCCACCAACCTG	0.498		NaN											1	0	4.75955e-12	0.00361	5.23934e-12	48	321				
ROCK2	9475	broad.mit.edu	37	2	11355053	11355053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:11355053C>G	uc002rbd.1	-	16	2298	c.1849G>C	c.(1849-1851)GAA>CAA	p.E617Q		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	617	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATTCCTTTTCAAGTTTTAAC	0.383		NaN											0	0	0	0.001168	0	6	94				
NT5C1B	93034	broad.mit.edu	37	2	18757543	18757543	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:18757543G>A	uc002rcz.2	-	9	1520	c.1416C>T	c.(1414-1416)CTC>CTT	p.L472L	NT5C1B_uc002rcy.2_Silent_p.L472L|NT5C1B_uc010exr.2_Silent_p.L414L|NT5C1B_uc010yju.1_Silent_p.L412L|NT5C1B_uc002rda.2_Silent_p.L412L|NT5C1B_uc010yjv.1_Silent_p.L489L|NT5C1B_uc010yjw.1_Silent_p.L455L|NT5C1B_uc010exs.2_Silent_p.L474L	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	472					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CATCAGAGAAGAGGACAGCAT	0.453		NaN											0	0	0	0.001168	0	5	83				
SIX2	10736	broad.mit.edu	37	2	45233476	45233476	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:45233476G>A	uc002ruo.2	-	2	1002	c.709C>T	c.(709-711)CCC>TCC	p.P237S	SIX2_uc002rup.2_Missense_Mutation_p.P239S	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	237						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGGGGCGGCGGGCTG	0.701		NaN											0	0	0	0.00499	0	16	140				
TSPYL6	388951	broad.mit.edu	37	2	54482756	54482756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:54482756C>G	uc002rxr.2	-	1	654	c.533G>C	c.(532-534)AGA>ACA	p.R178T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	178					nucleosome assembly	nucleus					0						ATCTATTGCTCTGTTTTCTTC	0.617		NaN											0	0	0	0.004007	0	15	166				
MCEE	84693	broad.mit.edu	37	2	71337220	71337220	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:71337220C>G	uc002shs.2	-	3	456	c.411G>C	c.(409-411)TTG>TTC	p.L137F		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	137					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TCTTTTTTTTCAAATCCATCA	0.333		NaN											0	0	0	0.006214	0	8	42				
FBXO41	150726	broad.mit.edu	37	2	73493771	73493771	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:73493771C>T	uc002sjb.1	-	3	1128	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	315	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCTCCCGCGCCGCCGTCTCCT	0.667		NaN											0	0	0	0.00308	0	7	77				
C2orf3	6936	broad.mit.edu	37	2	75917840	75917840	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:75917840C>T	uc002sno.2	-	8	1280	c.1150G>A	c.(1150-1152)GAT>AAT	p.D384N	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.D215N|C2orf3_uc010fft.2_Missense_Mutation_p.D59N	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	384					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GATGTCTCATCTTTGCCTGTT	0.289		NaN											0	0	0	0.007413	0	19	163				
LRP2	4036	broad.mit.edu	37	2	170063207	170063207	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:170063207G>C	uc002ues.2	-	39	7236	c.7023C>G	c.(7021-7023)GTC>GTG	p.V2341V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2341	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTTGTTGTTGACCTCTGCTG	0.507		NaN											0	0	0	0.006214	0	9	59				
AGPS	8540	broad.mit.edu	37	2	178346824	178346824	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:178346824C>G	uc002ull.2	+	11	1190	c.1143C>G	c.(1141-1143)ATC>ATG	p.I381M	AGPS_uc010zfb.1_Missense_Mutation_p.I291M	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	381	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)			CAATAAAAATCAGACCAGTCC	0.338		NaN											0	0	0	0.008291	0	10	47				
TTN	7273	broad.mit.edu	37	2	179474920	179474920	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179474920G>T	uc010zfg.1	-	220	43853	c.43629C>A	c.(43627-43629)CTC>CTA	p.L14543L	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8238L|TTN_uc010zfi.1_Silent_p.L8171L|TTN_uc010zfj.1_Silent_p.L8046L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15470							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)			CATTTGGTATGAGATCCTTCA	0.418		NaN											1	0	5.61819e-17	0.005443	6.33787e-17	27	220				
TTN	7273	broad.mit.edu	37	2	179640747	179640747	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179640747C>G	uc010zfg.1	-	28	6068	c.5844G>C	c.(5842-5844)GAG>GAC	p.E1948D	TTN_uc010zfh.1_Missense_Mutation_p.E1902D|TTN_uc010zfi.1_Missense_Mutation_p.E1902D|TTN_uc010zfj.1_Missense_Mutation_p.E1902D|TTN_uc002unb.2_Missense_Mutation_p.E1948D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1948							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)			GTACGTGAAACTCAGGCCTTG	0.423		NaN											0	0	0	0.008871	0	18	261				
NCKAP1	10787	broad.mit.edu	37	2	183817542	183817542	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:183817542C>T	uc002upc.2	-	22	2884	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K	NCKAP1_uc002upb.2_Missense_Mutation_p.E834K	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	828					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATATTCCTCTGCATTGAAT	0.338		NaN											0	0	0	0.008291	0	9	44				
PMS1	5378	broad.mit.edu	37	2	190728630	190728630	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:190728630C>G	uc002urh.3	+	10	2547	c.2018C>G	c.(2017-2019)TCT>TGT	p.S673C	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.S612C|PMS1_uc002urk.3_Missense_Mutation_p.S634C|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.S497C|PMS1_uc010zgd.1_Missense_Mutation_p.S497C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S634C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S341C	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	673					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTCATTATCTAATCAACCA	0.358		NaN	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					0	0	0	0.001855	0	13	117				
CCDC150	284992	broad.mit.edu	37	2	197521488	197521488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:197521488G>A	uc002utp.1	+	3	443	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	CCDC150_uc002uto.1_Missense_Mutation_p.R103Q|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103											0						CTGGTAAATCGAATGTGCCGT	0.398		NaN											0	0	0	0.008361	0	29	65				
BOLL	66037	broad.mit.edu	37	2	198607796	198607796	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:198607796C>G	uc002uus.2	-	10	1127	c.817G>C	c.(817-819)GAG>CAG	p.E273Q	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.E279Q|BOLL_uc002uut.2_Missense_Mutation_p.E285Q|BOLL_uc010zha.1_Missense_Mutation_p.E164Q|BOLL_uc002uuu.1_Missense_Mutation_p.E301Q	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	273					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						TTAATTGGCTCAGGCTGCATC	0.358		NaN											0	0	0	0.012319	0	21	36				
PARD3B	117583	broad.mit.edu	37	2	205969201	205969201	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:205969201G>C	uc002var.1	+	5	763	c.556G>C	c.(556-558)GAA>CAA	p.E186Q	PARD3B_uc010fub.1_Missense_Mutation_p.E186Q|PARD3B_uc002vao.1_Missense_Mutation_p.E186Q|PARD3B_uc002vap.1_Missense_Mutation_p.E186Q|PARD3B_uc002vaq.1_Missense_Mutation_p.E186Q	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	186					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGTACAGACAGAACTACTAAC	0.338		NaN											0	0	0	0.010818	0	29	128				
PROCR	10544	broad.mit.edu	37	20	33762599	33762599	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:33762599G>A	uc002xbt.2	+	2	349	c.165G>A	c.(163-165)ACG>ACA	p.T55T	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.T92T	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	55	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GACACCTAACGCACGTGCTGG	0.627		NaN											0	0	0	0.001984	0	7	110				
RALGAPB	57148	broad.mit.edu	37	20	37153561	37153561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:37153561C>A	uc002xiw.2	+	11	2017	c.1760C>A	c.(1759-1761)TCA>TAA	p.S587*	RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.2_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiy.1_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiz.2_Nonsense_Mutation_p.S365*|RALGAPB_uc002xja.1_Nonsense_Mutation_p.S314*	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	587					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TACTTTATTTCAGCTCTTGAA	0.433		NaN											1	0	3.8128e-34	0.00361	4.35521e-34	55	275				
SLC37A1	54020	broad.mit.edu	37	21	43938572	43938572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:43938572G>A	uc002zbi.2	+	3	420	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	SLC37A1_uc002zbh.1_RNA|SLC37A1_uc002zbj.2_Missense_Mutation_p.R3Q	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	3					carbohydrate transport|transmembrane transport	integral to membrane					0						TAAATGGCTCGACTCCCCGCT	0.547		NaN											0	0	0	0.002836	0	30	80				
PDE9A	5152	broad.mit.edu	37	21	44174150	44174150	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:44174150C>T	uc002zbm.2	+	10	849	c.786C>T	c.(784-786)GAC>GAT	p.D262D	PDE9A_uc002zbn.2_Silent_p.D135D|PDE9A_uc002zbo.2_Silent_p.D209D|PDE9A_uc002zbp.2_Silent_p.D55D|PDE9A_uc002zbq.2_Silent_p.D160D|PDE9A_uc002zbs.2_Silent_p.D55D|PDE9A_uc002zbr.2_Silent_p.D55D|PDE9A_uc002zbt.2_Silent_p.D134D|PDE9A_uc002zbu.2_Silent_p.D128D|PDE9A_uc002zbv.2_Silent_p.D102D|PDE9A_uc002zbw.2_Silent_p.D45D|PDE9A_uc002zbx.2_Silent_p.D202D|PDE9A_uc002zby.2_Silent_p.D45D|PDE9A_uc002zbz.2_Silent_p.D154D|PDE9A_uc002zca.2_Silent_p.D221D|PDE9A_uc002zcb.2_Silent_p.D236D|PDE9A_uc002zcc.2_Silent_p.D161D|PDE9A_uc002zcd.2_Silent_p.D176D|PDE9A_uc002zce.2_Silent_p.D195D|PDE9A_uc002zcf.2_Silent_p.D55D|PDE9A_uc002zcg.2_Silent_p.D55D|PDE9A_uc002zch.2_Silent_p.D45D|PDE9A_uc010gpf.1_Silent_p.D55D	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	262					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CGACCTTTGACGTCTGGCTTT	0.627		NaN											0	0	0	0.004482	0	7	56				
CLTCL1	8218	broad.mit.edu	37	22	19175135	19175135	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:19175135G>T	uc002zpb.2	-	30	4615	c.4540C>A	c.(4540-4542)CTG>ATG	p.L1514M	CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.L1493M|CLTCL1_uc011agt.1_Missense_Mutation_p.L305M|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1514	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCCTTGTACAGATAGGCCGCA	0.542		NaN	T	NaN	ALCL								1	0	4.14922e-12	0.004007	4.58598e-12	15	115				
MCM5	4174	broad.mit.edu	37	22	35808507	35808507	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:35808507C>T	uc003anu.3	+	8	1018	c.924C>T	c.(922-924)CGC>CGT	p.R308R	MCM5_uc010gwr.2_Silent_p.R117R|MCM5_uc003anv.3_Silent_p.R265R|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.R92R	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						ACCAAGGCCGCAGCTTTGCTG	0.627		NaN											0	0	0	0.007413	0	15	186				
SYNGR1	9145	broad.mit.edu	37	22	39770522	39770522	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:39770522C>G	uc003axq.3	+	2	363	c.301C>G	c.(301-303)CGC>GGC	p.R101G	SYNGR1_uc003axo.3_Missense_Mutation_p.R101G|SYNGR1_uc003axp.3_Silent_p.T31T|TAB1_uc003axr.2_5'UTR|SYNGR1_uc003axs.3_Missense_Mutation_p.R102G	NM_004711	NP_004702	O43759	SNG1_HUMAN	synaptogyrin 1 isoform 1a	101	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome					0	Melanoma(58;0.04)					CGTCAAGGACCGCAAGAAAGC	0.622		NaN											0	0	0	0.00245	0	13	174				
MKL1	57591	broad.mit.edu	37	22	40814492	40814492	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:40814492G>A	uc003ayv.1	-	9	2157	c.1950C>T	c.(1948-1950)ATC>ATT	p.I650I	MKL1_uc003ayw.1_Silent_p.I650I|MKL1_uc010gye.1_Silent_p.I650I|MKL1_uc010gyf.1_Silent_p.I600I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	650	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAACCCCCTTGATGAGGCTGG	0.662		NaN	T	RBM15	acute megakaryocytic leukemia								0	0	0	0.006214	0	9	142				
SCN10A	6336	broad.mit.edu	37	3	38783971	38783971	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:38783971A>C	uc003ciq.2	-	13	1917	c.1917T>G	c.(1915-1917)TCT>TCG	p.S639S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	639					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATACTTCTGAGACAAGCTGG	0.488		NaN											0	0	0	0.004656	0	23	178				
IMPDH2	3615	broad.mit.edu	37	3	49063798	49063798	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:49063798C>T	uc003cvt.2	-	9	1057	c.965G>A	c.(964-966)CGG>CAG	p.R322Q		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	322		IMP.			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CATGCCCACCCGCAGGGCATC	0.527		NaN											0	0	0	0.001168	0	5	47				
TLR9	54106	broad.mit.edu	37	3	52256140	52256140	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52256140T>G	uc003dda.1	-	2	2826	c.2192A>C	c.(2191-2193)AAC>ACC	p.N731T	TLR9_uc003ddb.2_Missense_Mutation_p.N828T	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	731	LRR 25.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTAAGGTTGAGCTCTCG	0.617		NaN											0	0	0	0.00245	0	14	139				
SFMBT1	51460	broad.mit.edu	37	3	52962228	52962228	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52962228G>A	uc003dgf.2	-	10	1596	c.1027C>T	c.(1027-1029)CTA>TTA	p.L343L	SFMBT1_uc010hmr.2_Silent_p.L290L|SFMBT1_uc003dgg.2_Silent_p.L343L|SFMBT1_uc003dgh.2_Silent_p.L343L	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	343	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGTGTAGGCCATTCTTC	0.522		NaN											0	0	0	0.010504	0	18	179				
C3orf26	84319	broad.mit.edu	37	3	99881159	99881159	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:99881159G>A	uc003dtl.2	+	4	381	c.238G>A	c.(238-240)GAT>AAT	p.D80N		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	80							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						GAAAATTACTGATGTTCTTGC	0.373		NaN											0	0	0	0.010771	0	42	53				
RAB6B	51560	broad.mit.edu	37	3	133614283	133614283	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:133614283G>A	uc003epy.2	-	1	409	c.28C>T	c.(28-30)CCA>TCA	p.P10S	RAB6B_uc011blu.1_5'UTR	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	10					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						TTTCTCAGTGGATTCCCAAAA	0.408		NaN											0	0	0	0.004482	0	7	85				
LRRC33	375387	broad.mit.edu	37	3	196387064	196387064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:196387064C>T	uc003fwv.2	+	3	654	c.550C>T	c.(550-552)CGG>TGG	p.R184W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	184	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGAGCGTCTCCGGGAGCTGGA	0.632		NaN											0	0	0	0.001984	0	6	53				
TMEM33	55161	broad.mit.edu	37	4	41941219	41941219	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:41941219T>C	uc003gwi.2	+	3	512	c.147T>C	c.(145-147)CAT>CAC	p.H49H	TMEM33_uc010ifw.2_Intron	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	49	Helical; (Potential).					integral to membrane|melanosome	protein binding			ovary(1)	1						GCAGGTTGCATGAAGCAGCAA	0.438		NaN											0	0	0	0.008291	0	10	101				
CEP135	9662	broad.mit.edu	37	4	56818365	56818365	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:56818365G>C	uc003hbi.2	+	2	303	c.69G>C	c.(67-69)CAG>CAC	p.Q23H	CEP135_uc003hbh.1_Missense_Mutation_p.Q23H|CEP135_uc010igz.1_5'Flank	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	23					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					GATACCGCCAGACTCTGACAG	0.373		NaN											0	0	0	0.010729	0	10	107				
CSN3	1448	broad.mit.edu	37	4	71114859	71114859	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:71114859C>T	uc003hfe.3	+	4	290	c.232C>T	c.(232-234)CGC>TGC	p.R78C		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	78						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ATATGTGCCTCGCACATATTA	0.448		NaN											0	0	0	0.004482	0	9	91				
SPATA5	166378	broad.mit.edu	37	4	123900543	123900543	+	Splice_Site	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:123900543T>G	uc003iez.3	+	10	1942	c.1869_splice	c.e10+2	p.N623_splice	SPATA5_uc003iey.2_Splice_Site_p.N622_splice	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GTCCCAAATGTAAGTCATTTA	0.388		NaN											0	0	0	0.001368	0	13	172				
PCDH10	57575	broad.mit.edu	37	4	134072052	134072052	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:134072052C>T	uc003iha.2	+	1	1583	c.757C>T	c.(757-759)CCC>TCC	p.P253S	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P253S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	253	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCGACCAACCCGTCTACAC	0.602		NaN											0	0	0	0.001984	0	7	97				
DCHS2	54798	broad.mit.edu	37	4	155254442	155254442	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:155254442T>G	uc003inw.2	-	9	1421	c.1421A>C	c.(1420-1422)AAT>ACT	p.N474T	DCHS2_uc003inx.2_Missense_Mutation_p.N973T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	474	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTTGTCATTGACATCCAT	0.607		NaN											0	0	0	0.007413	0	19	105				
SH3RF1	57630	broad.mit.edu	37	4	170017810	170017810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:170017810G>A	uc003isa.1	-	12	2862	c.2527C>T	c.(2527-2529)CAG>TAG	p.Q843*		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	843	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCCTCACTCTGAGGAGGATAG	0.398		NaN											0	0	0	0.001855	0	14	86				
MLF1IP	79682	broad.mit.edu	37	4	185622015	185622015	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:185622015C>G	uc003iwq.2	-	11	1015	c.945G>C	c.(943-945)AAG>AAC	p.K315N	MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	315	Nuclear localization signal (Potential).|Potential.				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.333		NaN											0	0	0	0.00308	0	8	87				
F11	2160	broad.mit.edu	37	4	187201424	187201424	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:187201424G>A	uc003iza.1	+	9	1246	c.913G>A	c.(913-915)GAA>AAA	p.E305K		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	305	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTGGGAGAAGAACTGGATAT	0.493		NaN											0	0	0	0.00499	0	16	207				
KIAA0947	23379	broad.mit.edu	37	5	5457794	5457794	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:5457794G>C	uc003jdm.3	+	12	1263	c.1041G>C	c.(1039-1041)GTG>GTC	p.V347V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	347	Pro-rich.									ovary(1)|central_nervous_system(1)	2						TGTCACCAGTGCCCTCGCCCC	0.458		NaN											0	0	0	0.00361	0	62	420				
SKP2	6502	broad.mit.edu	37	5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:36163852G>A	uc003jkc.1	+	3	568	c.386G>A	c.(385-387)CGC>CAC	p.R129H	SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.R129H	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	129	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468		NaN											0	0	0	0.008291	0	10	120				
C9	735	broad.mit.edu	37	5	39308390	39308390	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:39308390G>C	uc003jlv.3	-	8	1271	c.1182C>G	c.(1180-1182)ATC>ATG	p.I394M		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCCAACAGAGATTTCAGAGA	0.368		NaN											0	0	0	0.00308	0	8	166				
GPR98	84059	broad.mit.edu	37	5	89985813	89985813	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:89985813C>A	uc003kju.2	+	30	6722	c.6626C>A	c.(6625-6627)ACA>AAA	p.T2209K	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2209	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGAATGAAACAACAGGAGGA	0.398		NaN											1	0	3.07112e-06	0.010729	3.23712e-06	11	9				
CHD1	1105	broad.mit.edu	37	5	98212205	98212205	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:98212205C>A	uc003knf.2	-	23	3443	c.3295G>T	c.(3295-3297)GAT>TAT	p.D1099Y	CHD1_uc010jbn.2_5'Flank	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1099					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAATCACTATCAGATCCAGAG	0.408		NaN											1	0	3.07112e-06	0.010729	3.23712e-06	9	185				
APC	324	broad.mit.edu	37	5	112179759	112179759	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:112179759C>G	uc010jby.2	+	16	8848	c.8468C>G	c.(8467-8469)ACA>AGA	p.T2823R	APC_uc011cvt.1_Missense_Mutation_p.T2805R|APC_uc003kpz.3_Missense_Mutation_p.T2823R|APC_uc003kpy.3_Missense_Mutation_p.T2823R|APC_uc010jbz.2_Missense_Mutation_p.T2540R|APC_uc010jca.2_Missense_Mutation_p.T2123R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2823	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGACAGCACAGAATCCAGT	0.438		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.006999	0	40	42		Valid		
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140256667C>T	uc003lic.2	+	1	1737	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687		NaN											0	0	0	0.00361	0	107	89				
PCDHB9	56127	broad.mit.edu	37	5	140568500	140568500	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140568500G>A	uc003liw.1	+	3	1609	c.1609G>A	c.(1609-1611)GGC>AGC	p.G537S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	537	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGCTCCCCGGC	0.667		NaN											0	0	0	0.00361	0	46	113				
PCDHGC5	56097	broad.mit.edu	37	5	140890659	140890659	+	Silent	SNP	C	C	T	rs143362044	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140890659C>T	uc003lla.1	+	4	2754	c.2754C>T	c.(2752-2754)AAC>AAT	p.N918N	PCDHGA1_uc003lji.1_Silent_p.N905N|PCDHGA2_uc003ljk.1_Silent_p.N906N|PCDHGA3_uc003ljm.1_Silent_p.N906N|PCDHGA3_uc010jfx.1_Silent_p.N666N|PCDHGB1_uc003ljo.1_Silent_p.N901N|PCDHGA4_uc003ljq.1_Silent_p.N905N|PCDHGB2_uc003ljs.1_Silent_p.N905N|PCDHGA5_uc003lju.1_Silent_p.N905N|PCDHGB3_uc003ljw.1_Silent_p.N903N|PCDHGA6_uc003ljy.1_Silent_p.N906N|PCDHGA7_uc003lka.1_Silent_p.N906N|PCDHGB4_uc003lkc.1_Silent_p.N897N|PCDHGA8_uc003lkd.1_Silent_p.N906N|PCDHGB5_uc003lkf.1_Silent_p.N897N|PCDHGA9_uc003lkh.1_Silent_p.N906N|PCDHGB6_uc003lkj.1_Silent_p.N904N|PCDHGA10_uc003lkl.1_Silent_p.N910N|PCDHGB7_uc003lkn.1_Silent_p.N903N|PCDHGA11_uc003lkp.1_Silent_p.N724N|PCDHGA11_uc003lkq.1_Silent_p.N909N|PCDHGA12_uc003lkt.1_Silent_p.N906N|PCDHGC3_uc003lkv.1_Silent_p.N908N|PCDHGC3_uc003lkw.1_Silent_p.N108N|PCDHGC4_uc003lky.1_Silent_p.N912N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	918	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGACCAACGCAGCTGGCA	0.597		NaN											0	0	0	0.004482	0	8	127				
TCERG1	10915	broad.mit.edu	37	5	145890061	145890061	+	Silent	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:145890061A>G	uc003lob.2	+	22	3193	c.3153A>G	c.(3151-3153)TTA>TTG	p.L1051L	TCERG1_uc003loc.2_Silent_p.L1030L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1051	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAAATTTTACAGAATGACA	0.383		NaN											0	0	0	0.009535	0	31	46				
GRIA1	2890	broad.mit.edu	37	5	153144142	153144142	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:153144142G>C	uc003lva.3	+	12	2337	c.1972G>C	c.(1972-1974)GAA>CAA	p.E658Q	GRIA1_uc003luy.3_Missense_Mutation_p.E658Q|GRIA1_uc003luz.3_Missense_Mutation_p.E563Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E578Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E589Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E668Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E668Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	658	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGCAGACAGAAATTGCCTA	0.507		NaN											0	0	0	0.004482	0	8	52				
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:7585963C>A	uc003mxp.1	+	24	8747	c.8468C>A	c.(8467-8469)CCG>CAG	p.P2823Q	DSP_uc003mxq.1_Missense_Mutation_p.P2224Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2823	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.428		NaN											1	0	2.44723e-14	0.004656	2.74936e-14	27	137				
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:26234919G>C	uc003nhd.2	-	1	298	c.243C>G	c.(241-243)ATC>ATG	p.I81M		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542		NaN											0	0	0	0.012319	0	22	160				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.001168	0	4	22				
CFB	629	broad.mit.edu	37	6	31918657	31918657	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:31918657C>G	uc003nyj.3	+	14	2069	c.1791C>G	c.(1789-1791)CTC>CTG	p.L597L	CFB_uc011dor.1_Silent_p.L1099L	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	597	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CCATTTGTCTCCCCTGCACCG	0.532		NaN											0	0	0	0.008871	0	18	130				
PHF3	23469	broad.mit.edu	37	6	64422216	64422216	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:64422216A>G	uc003pep.1	+	15	4758	c.4732A>G	c.(4732-4734)ATT>GTT	p.I1578V	PHF3_uc003pen.2_Missense_Mutation_p.I1490V|PHF3_uc011dxs.1_Missense_Mutation_p.I847V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1578					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAATTTATCAATTCAGTCAAA	0.378		NaN											0	0	0	0.000602	0	5	95				
IRAK1BP1	134728	broad.mit.edu	37	6	79577433	79577433	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:79577433A>C	uc003pim.2	+	1	245	c.140A>C	c.(139-141)CAA>CCA	p.Q47P	IRAK1BP1_uc010kbg.1_RNA	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	47	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACACAAGCCCAAACTGCTACC	0.652		NaN											0	0	0	0.001368	0	12	45				
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:111346773T>A	uc003pun.2	+	10	928	c.909T>A	c.(907-909)ATT>ATA	p.I303I	RPF2_uc003puo.2_Silent_p.I240I|uc003pup.1_5'Flank	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	303						nucleolus	protein binding			ovary(2)	2						CAAAAAGAATTAAAAAAAATT	0.368		NaN											0	0	0	0.001855	0	8	28				
ECHDC1	55862	broad.mit.edu	37	6	127611373	127611373	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:127611373T>C	uc003qax.2	-	6	601	c.565A>G	c.(565-567)ATA>GTA	p.I189V	ECHDC1_uc003qaz.3_Missense_Mutation_p.I183V|ECHDC1_uc010key.2_Missense_Mutation_p.I108V|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	189							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTTGGTATTATGCCCATCTCT	0.413		NaN											0	0	0	0.006214	0	10	84				
BCLAF1	9774	broad.mit.edu	37	6	136600967	136600967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:136600967G>T	uc003qgx.1	-	3	291	c.38C>A	c.(37-39)TCA>TAA	p.S13*	BCLAF1_uc003qgw.1_Nonsense_Mutation_p.S13*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.S13*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.S13*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	13					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGACTTTGACCTTGAAGA	0.303		NaN											1	0	1.12685e-05	0.004482	1.18319e-05	9	75				
SASH1	23328	broad.mit.edu	37	6	148864865	148864865	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:148864865C>G	uc003qme.1	+	18	2734	c.2259C>G	c.(2257-2259)CCC>CCG	p.P753P	SASH1_uc011eeb.1_Silent_p.P514P|SASH1_uc003qmf.1_Silent_p.P163P	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	753							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCACCGAGCCCAGCTTGAAGT	0.463		NaN											0	0	0	0.00278	0	21	93				
C6orf72	116254	broad.mit.edu	37	6	149901812	149901812	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:149901812A>C	uc003qmq.1	+	6	697	c.670A>C	c.(670-672)AAG>CAG	p.K224Q	C6orf72_uc010kie.1_Missense_Mutation_p.K104Q	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	224	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TTTACCTGGCAAGTTACCTGA	0.398		NaN											0	0	0	0.001168	0	6	107				
AKAP12	9590	broad.mit.edu	37	6	151671634	151671634	+	Missense_Mutation	SNP	G	G	A	rs151321698	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:151671634G>A	uc011eep.1	+	4	2348	c.2108G>A	c.(2107-2109)GGA>GAA	p.G703E	AKAP12_uc003qoe.2_Missense_Mutation_p.G703E|AKAP12_uc003qof.2_Missense_Mutation_p.G605E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G598E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	703					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGGAAGGGGGACCAAAAGCA	0.502		NaN											0	0	0	0.00499	0	17	150				
SYNE1	23345	broad.mit.edu	37	6	152621819	152621819	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152621819C>G	uc010kiw.2	-	93	18241	c.17639G>C	c.(17638-17640)CGC>CCC	p.R5880P	SYNE1_uc010kiv.2_Missense_Mutation_p.R404P|SYNE1_uc003qos.3_Missense_Mutation_p.R404P|SYNE1_uc003qot.3_Missense_Mutation_p.R5809P|SYNE1_uc003qou.3_Missense_Mutation_p.R5880P|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5880	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGGGGAGCGACAGGCAGG	0.537		NaN								HNSCC(10;0.0054)			0	0	0	0.004482	0	6	74				
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152665261C>A	uc010kiw.2	-	74	12782	c.12180G>T	c.(12178-12180)GAG>GAT	p.E4060D	SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E4060D(1)		central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGACTTGGCTCTAAATCCG	0.453		NaN								HNSCC(10;0.0054)			1	0	0.00116845	0.001168	0.0011947	6	122				
CARD11	84433	broad.mit.edu	37	7	2954983	2954983	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2954983C>G	uc003smv.2	-	21	3131	c.2727G>C	c.(2725-2727)AAG>AAC	p.K909N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	909					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCGCTTATACTTGTTCTCGG	0.602		NaN	Mis		DLBCL								0	0	0	0.008291	0	9	86				
CARD11	84433	broad.mit.edu	37	7	2956960	2956960	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2956960G>C	uc003smv.2	-	20	3071	c.2667C>G	c.(2665-2667)CTC>CTG	p.L889L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	889					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGCTCGCGAGAGACGGGGGC	0.557		NaN	Mis		DLBCL								0	0	0	0.009096	0	4	40				
AGR3	155465	broad.mit.edu	37	7	16913456	16913456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:16913456C>T	uc003sts.2	-	3	194	c.121G>A	c.(121-123)GAC>AAC	p.D41N		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	41						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CAAGTGATGTCATCTCCCCAT	0.348		NaN											0	0	0	0.004482	0	9	126				
OGDH	4967	broad.mit.edu	37	7	44746824	44746824	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:44746824G>A	uc003tln.2	+	21	2742	c.2633G>A	c.(2632-2634)GGA>GAA	p.G878E	OGDH_uc011kbx.1_Missense_Mutation_p.G874E|OGDH_uc011kby.1_Missense_Mutation_p.G728E|OGDH_uc003tlp.2_Missense_Mutation_p.G889E|OGDH_uc011kbz.1_Missense_Mutation_p.G673E	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	878					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCTCTTGTAGGAACCCACTTC	0.562		NaN											0	0	0	0.001984	0	6	102				
TPST1	8460	broad.mit.edu	37	7	65817531	65817531	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:65817531G>C	uc003tuw.2	+	4	1436	c.1084G>C	c.(1084-1086)GAA>CAA	p.E362Q	TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E362Q|TPST1_uc010laa.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	362	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0						CTTTCTTAAAGAAAAACCACA	0.383		NaN											0	0	0	0.003954	0	22	187				
PCLO	27445	broad.mit.edu	37	7	82585934	82585934	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:82585934C>T	uc003uhx.2	-	5	4624	c.4335G>A	c.(4333-4335)CAG>CAA	p.Q1445Q	PCLO_uc003uhv.2_Silent_p.Q1445Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1376					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTCTTTAGGCTGTTCAGGAG	0.373		NaN											0	0	0	0.010818	0	33	57				
FBXL13	222235	broad.mit.edu	37	7	102669092	102669092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:102669092G>A	uc003vaq.2	-	4	599	c.172C>T	c.(172-174)CAT>TAT	p.H58Y	FBXL13_uc010lir.1_Missense_Mutation_p.H58Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.H58Y|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	58											0						TGCCAGTGATGAAATACAGAT	0.318		NaN											0	0	0	0.00308	0	8	101				
TAS2R39	259285	broad.mit.edu	37	7	142881419	142881419	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:142881419A>C	uc011ksw.1	+	1	908	c.908A>C	c.(907-909)TAC>TCC	p.Y303S		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	303	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					ATGGCTGCCTACCCTGCCAGC	0.458		NaN											0	0	0	0.004656	0	11	51				
OR6B1	135946	broad.mit.edu	37	7	143701410	143701410	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:143701410C>G	uc003wdt.1	+	1	321	c.321C>G	c.(319-321)CTC>CTG	p.L107L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					TCATTGCTCTCATGTGCACAG	0.483		NaN											0	0	0	0.004007	0	16	262				
GBX1	2636	broad.mit.edu	37	7	150845868	150845868	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:150845868G>A	uc011kvg.1	-	2	1132	c.900C>T	c.(898-900)CTC>CTT	p.L300L		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	300	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCTCACTGAGCTTGAGGG	0.522		NaN											0	0	0	0.006214	0	9	160				
CDCA2	157313	broad.mit.edu	37	8	25365244	25365244	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:25365244G>C	uc003xep.1	+	15	3541	c.3062G>C	c.(3061-3063)AGA>ACA	p.R1021T	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R1006T|CDCA2_uc003xer.1_Missense_Mutation_p.R684T	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGGAGAAAGAAAGCAGTAA	0.453		NaN											0	0	0	0.001168	0	6	82				
TSPYL5	85453	broad.mit.edu	37	8	98288924	98288924	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:98288924C>T	uc003yhy.2	-	1	1253	c.1149G>A	c.(1147-1149)TTG>TTA	p.L383L		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	383					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CCCCTTCACTCAAAAGGTAGA	0.483		NaN											0	0	0	0.00361	0	42	321				
OXR1	55074	broad.mit.edu	37	8	107719297	107719297	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107719297G>C	uc011lht.1	+	8	1650	c.1551G>C	c.(1549-1551)CAG>CAC	p.Q517H	OXR1_uc003ymf.2_Missense_Mutation_p.Q516H|OXR1_uc011lhu.1_Missense_Mutation_p.Q509H|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q214H|OXR1_uc003ymg.1_Missense_Mutation_p.Q449H|OXR1_uc003ymi.1_Missense_Mutation_p.Q428H	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	517					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACTAAACAGCAAAGGGAAA	0.368		NaN											0	0	0	0.010729	0	12	151				
ABRA	137735	broad.mit.edu	37	8	107773566	107773566	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107773566C>T	uc003ymm.3	-	2	899	c.845G>A	c.(844-846)GGA>GAA	p.G282E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	282	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCCCTCATCTCCTTTGTGTAG	0.517		NaN											0	0	0	0.00361	0	75	100				
PHF20L1	51105	broad.mit.edu	37	8	133827086	133827086	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:133827086G>C	uc003ytt.2	+	10	1460	c.1135G>C	c.(1135-1137)GAT>CAT	p.D379H	PHF20L1_uc003yts.2_Missense_Mutation_p.D379H|PHF20L1_uc011lja.1_Missense_Mutation_p.D353H|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	379							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAAGTCGAGGATTTGACGCT	0.348		NaN											0	0	0	0.005443	0	21	167				
HAUS6	54801	broad.mit.edu	37	9	19093277	19093277	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:19093277G>C	uc003znk.2	-	4	581	c.328C>G	c.(328-330)CAA>GAA	p.Q110E	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	110					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						CCAACAACTTGAGGAAAGCTA	0.313		NaN											0	0	0	0.008291	0	11	74				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.00245	0	11	16		Valid		
KIAA1045	23349	broad.mit.edu	37	9	34977116	34977116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:34977116G>T	uc003zvq.2	+	6	1064	c.886G>T	c.(886-888)GAG>TAG	p.E296*	KIAA1045_uc003zvr.2_Nonsense_Mutation_p.E296*	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	296							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAAGGAGCGGGAGCGAGCCCG	0.572		NaN											1	0	1.88708e-17	0.008361	2.13765e-17	27	76				
WNK2	65268	broad.mit.edu	37	9	96079823	96079823	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:96079823G>A	uc004ati.1	+	29	6649	c.6649G>A	c.(6649-6651)GTG>ATG	p.V2217M	WNK2_uc011lud.1_Missense_Mutation_p.V2180M|WNK2_uc004atj.2_Missense_Mutation_p.V2180M|WNK2_uc004atk.2_Missense_Mutation_p.V1705M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2217					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TCGAGCAGGAGTGGGGATGCC	0.657		NaN											0	0	0	0.00623	0	33	32				
MUSK	4593	broad.mit.edu	37	9	113444998	113444998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:113444998G>C	uc004bey.2	+	2	222	c.124G>C	c.(124-126)GAA>CAA	p.E42Q	MUSK_uc004bex.2_Missense_Mutation_p.E42Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	42	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGCCTTAGTTGAAGAAGTGGC	0.393		NaN											0	0	0	0.006122	0	18	200				
LHX2	9355	broad.mit.edu	37	9	126794886	126794886	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:126794886C>T	uc004boe.1	+	5	1860	c.1121C>T	c.(1120-1122)ACC>ATC	p.T374I	LHX2_uc010mwi.1_Missense_Mutation_p.T382I	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	374						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACTAGCCCCACCCTGCCAACT	0.617		NaN											0	0	0	0.004482	0	8	68				
DNM1	1759	broad.mit.edu	37	9	131010868	131010868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:131010868G>T	uc011mau.1	+	19	1999	c.1912G>T	c.(1912-1914)GAG>TAG	p.E638*	DNM1_uc011mat.1_Nonsense_Mutation_p.E638*|DNM1_uc004bub.1_Nonsense_Mutation_p.E11*|DNM1_uc004buc.1_Nonsense_Mutation_p.E105*|DNM1_uc004bud.3_RNA	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	638					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCAGGCCAGCGAGACCGAGGA	0.597		NaN											1	0	2.61681e-11	0.00245	2.85756e-11	15	109				
MAMDC4	158056	broad.mit.edu	37	9	139750491	139750491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:139750491G>A	uc004cjs.2	+	14	1660	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTCTGCAGCGGGCCTGGGGG	0.632		NaN											0	0	0	0.008871	0	18	110				
PTCHD1	139411	broad.mit.edu	37	X	23411319	23411319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:23411319G>T	uc004dal.3	+	3	1692	c.1684G>T	c.(1684-1686)GAG>TAG	p.E562*		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	562					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TTACATATATGAGTCTATAGA	0.403		NaN											1	0	0.000274275	0.004482	0.000282555	9	152				
ATRX	546	broad.mit.edu	37	X	76939791	76939791	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:76939791C>G	uc004ecp.3	-	9	1189	c.957G>C	c.(955-957)AAG>AAC	p.K319N	ATRX_uc004ecq.3_Missense_Mutation_p.K281N|ATRX_uc004eco.3_Missense_Mutation_p.K104N|ATRX_uc004ecr.2_Missense_Mutation_p.K280N|ATRX_uc010nlx.1_Missense_Mutation_p.K319N|ATRX_uc010nly.1_Missense_Mutation_p.K264N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTGAACTAGTCTTCTTTGGAG	0.333		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.008291	0	11	80				
ZFY	7544	broad.mit.edu	37	Y	2847298	2847298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrY:2847298C>T	uc004fqj.2	+	8	1991	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	ZFY_uc011nan.1_Missense_Mutation_p.S366L|ZFY_uc010nwe.2_Missense_Mutation_p.S480L	NM_003411	NP_003402	P08048	ZFY_HUMAN	zinc finger protein, Y-linked isoform 1	557	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGACACCCGTCGGAACTGAGA	0.473		NaN											0	0	0	0.001984	0	6	26				
TRPC6	7225	broad.mit.edu	37	11	101341944	101341944	+	Frame_Shift_Del	DEL	T	T	-	rs144927067		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:101341944delT	uc001pgk.3	-	9	2804	c.2379delA	c.(2377-2379)AAAfs	p.K793fs	TRPC6_uc009ywy.2_Frame_Shift_Del_p.K677fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.K738fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	793	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGGAAACCTTTTTTATGGC	0.393		NaN											NaN	NaN	NaN	NaN	NaN	7	2377	---		---	---
MMP13	4322	broad.mit.edu	37	11	102825997	102825997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:102825997delT	uc001phl.2	-	2	374	c.346delA	c.(346-348)ATGfs	p.M116fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	116					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTTAAATTCATTTTGGACCAT	0.343		NaN											NaN	NaN	NaN	NaN	NaN	9	901	---		---	---
ATM	472	broad.mit.edu	37	11	108142128	108142129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:108142128_108142129insT	uc001pkb.1	+	20	3457_3458	c.3072_3073insT	c.(3070-3075)GCATTTfs	p.A1024fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.A1024fs|ATM_uc009yxs.1_RNA	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1024_1025					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAATTGGAGCATTTTGGTAGGT	0.381		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			NaN	NaN	NaN	NaN	NaN	35	250	---	Valid	---	---
MLL2	8085	broad.mit.edu	37	12	49433094	49433094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:49433094delG	uc001rta.3	-	33	8277	c.8277delC	c.(8275-8277)CCCfs	p.P2759fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2759					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCCCAGGATGGGGCCACTCA	0.602		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	39	55	---	Valid	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:20296055_20296056insT	uc010tkv.1	+	1	448_449	c.448_449insT	c.(448-450)CTTfs	p.L150fs		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53		NaN											NaN	NaN	NaN	NaN	NaN	26	242	---		---	---
NFAT5	10725	broad.mit.edu	37	16	69681191	69681191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:69681191delA	uc002exm.1	+	3	1668	c.460delA	c.(460-462)AACfs	p.N154fs	NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Frame_Shift_Del_p.N78fs|NFAT5_uc002exj.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exk.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exl.1_Frame_Shift_Del_p.N172fs|NFAT5_uc002exn.1_Frame_Shift_Del_p.N172fs	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	154					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTGCTGGATAACAGTCGGAT	0.502		NaN											NaN	NaN	NaN	NaN	NaN	14	115	---		---	---
GAS2L2	246176	broad.mit.edu	37	17	34073205	34073206	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34073205_34073206insG	uc002hjv.1	-	6	1338_1339	c.1310_1311insC	c.(1309-1311)CCAfs	p.P437fs		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	437					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGTCTTTGTGGGGTGGGGTT	0.599		NaN											NaN	NaN	NaN	NaN	NaN	8	298	---		---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45247389delT	uc002ild.3	-	4	398	c.271delA	c.(271-273)ATCfs	p.I91fs	CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	91	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						CCAGATAAGATTTGTTCCCCT	0.323		NaN											NaN	NaN	NaN	NaN	NaN	8	232	---		---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:12430217delA	uc002mtp.2	-	4	860	c.622delT	c.(622-624)TGGfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAACTGGGCCAAAAAAAAGCT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	8	221	---		---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:109087883_109087884insA	uc002tec.2	+	6	2252_2253	c.2098_2099insA	c.(2098-2100)GAAfs	p.E700fs	GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	700	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						ACTCAGTTCAGAAAAAAAACAG	0.307		NaN											NaN	NaN	NaN	NaN	NaN	7	545	---		---	---
CABLES2	81928	broad.mit.edu	37	20	60966489	60966494	+	In_Frame_Del	DEL	CTCCGC	CTCCGC	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:60966489_60966494delCTCCGC	uc002ycv.2	-	9	1114_1119	c.1107_1112delGCGGAG	c.(1105-1113)ATGCGGAGC>ATC	p.369_371MRS>I		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	369_371					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCGACAGGCTCCGCATCTCCCGCT	0.636		NaN											NaN	NaN	NaN	NaN	NaN	86	231	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36651924	36651925	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:36651924_36651925delAA	uc003omm.3	+	2	168_169	c.46_47delAA	c.(46-48)AAGfs	p.K16fs	CDKN1A_uc011dtq.1_Frame_Shift_Del_p.K50fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.K16fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.K16fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	16	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						ATGCGGCAGCAAGGCCTGCCGC	0.649		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	47	24	---	Valid	---	---
BEND6	221336	broad.mit.edu	37	6	56882036	56882037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:56882036_56882037insT	uc010kab.2	+	5	1137_1138	c.551_552insT	c.(550-552)TGTfs	p.C184fs	BEND6_uc003pdi.3_Frame_Shift_Ins_p.C86fs	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	184	BEN.										0						ATTGCCCGTTGTAACAAGAGCA	0.361		NaN											NaN	NaN	NaN	NaN	NaN	20	30	---		---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:88144700delA	uc003plv.2	+	11	1515	c.1423delA	c.(1423-1425)AAAfs	p.K475fs	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Frame_Shift_Del_p.K475fs	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	475										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269		NaN											NaN	NaN	NaN	NaN	NaN	7	86	---		---	---
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:144081695_144081696insA	uc003qjq.3	+	5	709_710	c.579_580insA	c.(577-582)ATTAAAfs	p.I193fs	PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Ins_p.I204fs|PHACTR2_uc003qjr.3_Intron	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	193_194							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569		NaN											NaN	NaN	NaN	NaN	NaN	8	252	---		---	---
SMURF1	57154	broad.mit.edu	37	7	98638102	98638103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:98638102_98638103insC	uc003upu.1	-	14	1846_1847	c.1526_1527insG	c.(1525-1527)GGCfs	p.G509fs	SMURF1_uc003upv.1_Frame_Shift_Ins_p.G483fs|SMURF1_uc003upt.2_Frame_Shift_Ins_p.G483fs	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	509	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCACTGTGAAGCCCCCGTTGAT	0.559		NaN									OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	12	177	---		---	---
RHOXF2B	727940	broad.mit.edu	37	X	119293071	119293071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:119293071delA	uc004esl.3	+	2	420	c.230delA	c.(229-231)GAAfs	p.E77fs		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCGGAGAAGAAAAAGATGGC	0.607		NaN											NaN	NaN	NaN	NaN	NaN	18	48	---		---	---
