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
C1orf93	127281	broad.mit.edu	37	1	2520061	2520061	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:2520061A>C	uc001aju.1	+	5	533	c.457A>C	c.(457-459)AAA>CAA	p.K153Q	C1orf93_uc001ajw.1_Missense_Mutation_p.K153Q|C1orf93_uc001ajv.1_Missense_Mutation_p.K171Q|C1orf93_uc010nzd.1_Silent_p.A159A|C1orf93_uc010nze.1_Intron|C1orf93_uc010nzf.1_Intron|C1orf93_uc001ajx.1_Missense_Mutation_p.Q36P	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN	hypothetical protein LOC127281	153					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			central_nervous_system(1)	1	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGTGGTCAGCAAAGGTGGGTC	0.637000												
CHD5	26038	broad.mit.edu	37	1	6202574	6202574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:6202574C>T	uc001amb.1	-	14	2235	c.2135G>A	c.(2134-2136)CGC>CAC	p.R712H	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	712	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAAGAGAAGCGCAGCCAGTT	0.612000												
CROCC	9696	broad.mit.edu	37	1	17250856	17250856	+	Missense_Mutation	SNP	C	C	T	rs142411267	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:17250856C>T	uc001azt.2	+	3	302	c.233C>T	c.(232-234)TCG>TTG	p.S78L	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	78	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCGCTGCTGTCGCTGCAGGAG	0.647000												
ZBTB40	9923	broad.mit.edu	37	1	22828817	22828817	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:22828817G>T	uc001bft.2	+	6	1561	c.1050G>T	c.(1048-1050)TTG>TTT	p.L350F	ZBTB40_uc001bfu.2_Missense_Mutation_p.L350F|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	350					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAAGACCTTGTCTGTTCTGT	0.453000												
ZSCAN20	7579	broad.mit.edu	37	1	33960894	33960894	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:33960894G>A	uc001bxj.3	+	8	3117	c.2950G>A	c.(2950-2952)GAG>AAG	p.E984K	ZSCAN20_uc009vui.2_Missense_Mutation_p.E983K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	984					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCATACGGGAGAGAAGCCGTA	0.473000												
PDE4B	5142	broad.mit.edu	37	1	66821300	66821300	+	Silent	SNP	T	T	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:66821300T>C	uc001dcn.2	+	9	1029	c.838T>C	c.(838-840)TTA>CTA	p.L280L	PDE4B_uc009war.2_Silent_p.L188L|PDE4B_uc001dco.2_Silent_p.L280L|PDE4B_uc001dcp.2_Silent_p.L265L|PDE4B_uc001dcq.2_Silent_p.L108L|PDE4B_uc009was.2_Silent_p.L47L	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	280					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAATACTTTCTTAGGTAAGAT	0.388000												
MCOLN3	55283	broad.mit.edu	37	1	85510984	85510984	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:85510984G>A	uc001dkp.2	-	2	153	c.60C>T	c.(58-60)TGC>TGT	p.C20C	MCOLN3_uc001dkq.2_Silent_p.C20C|MCOLN3_uc001dkr.2_Silent_p.C20C|MCOLN3_uc001dks.3_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	20						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTAAAATTGCAGCGATTTT	0.403000												
TCHH	7062	broad.mit.edu	37	1	152084187	152084187	+	Silent	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:152084187C>T	uc001ezp.2	-	2	1506	c.1506G>A	c.(1504-1506)AGG>AGA	p.R502R	TCHH_uc009wne.1_Silent_p.R502R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	502	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCGCGCCTCTCCTGCT	0.522000												
CRABP2	1382	broad.mit.edu	37	1	156675185	156675185	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:156675185T>A	uc001fpr.2	-	1	191	c.54A>T	c.(52-54)GAA>GAT	p.E18D		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	18					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	CTTTGAGCAATTCCTCGAAGT	0.592000												
SYT14	255928	broad.mit.edu	37	1	210329223	210329223	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:210329223A>C	uc009xcv.2	+	7	1394	c.1322A>C	c.(1321-1323)CAC>CCC	p.H441P	SYT14_uc001hhs.3_Missense_Mutation_p.H486P|SYT14_uc001hht.3_Missense_Mutation_p.H441P|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.H486P|SYT14_uc010pso.1_Missense_Mutation_p.H403P	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	441	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAGGCAGCCACTTCAAAAAT	0.388000												
KCNH1	3756	broad.mit.edu	37	1	211192300	211192300	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:211192300A>T	uc001hib.2	-	6	1027	c.857T>A	c.(856-858)CTT>CAT	p.L286H	KCNH1_uc001hic.2_Missense_Mutation_p.L286H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	286	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGCGGATAAGTTTGGGGTC	0.443000												
GJC2	57165	broad.mit.edu	37	1	228346653	228346653	+	Silent	SNP	C	C	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr1:228346653C>G	uc001hsk.2	+	2	1369	c.1194C>G	c.(1192-1194)ACC>ACG	p.T398T		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	398	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCAGTGCTACCTCTGCGGGCA	0.776000												
KIAA1217	56243	broad.mit.edu	37	10	24832059	24832059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:24832059C>A	uc001iru.3	+	19	4263	c.3860C>A	c.(3859-3861)TCA>TAA	p.S1287*	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Nonsense_Mutation_p.S970*|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.S123*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1287					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TCTAAAATCTCAGGCCTGCAA	0.428000												
ARHGAP21	57584	broad.mit.edu	37	10	24880828	24880828	+	Silent	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:24880828C>A	uc001isb.2	-	22	4477	c.3990G>T	c.(3988-3990)ACG>ACT	p.T1330T	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1329	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GCTGGATGAGCGTTTCTACAA	0.458000												
FRMPD2	143162	broad.mit.edu	37	10	49482599	49482599	+	Silent	SNP	T	T	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:49482599T>C	uc001jgi.2	-	1	119	c.12A>G	c.(10-12)TTA>TTG	p.L4L	FRMPD2_uc001jgj.2_Silent_p.L4L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	4					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CGTCCTTCGTTAAAGGCTGCA	0.493000												
COL17A1	1308	broad.mit.edu	37	10	105794506	105794506	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr10:105794506G>A	uc001kxr.2	-	51	3808	c.3639C>T	c.(3637-3639)ATC>ATT	p.I1213I	COL17A1_uc001kxq.2_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1213	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGGGCCTGGGATGAATGACA	0.637000												
TUT1	64852	broad.mit.edu	37	11	62342958	62342958	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:62342958C>T	uc001nto.2	-	9	2385	c.2347G>A	c.(2347-2349)GCA>ACA	p.A783T	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.A279T	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	745					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						TCTTGGGCTGCCTCATGTCCC	0.682000												
FAT3	120114	broad.mit.edu	37	11	92088531	92088531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:92088531G>A	uc001pdj.3	+	1	3270	c.3253G>A	c.(3253-3255)GGC>AGC	p.G1085S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1085	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCAGGGATGGCAGTGGTCT	0.468000										TCGA Ovarian(4;0.039)		
ADAMTS8	11095	broad.mit.edu	37	11	130289118	130289118	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr11:130289118T>C	uc001qgg.3	-	2	1148	c.790A>G	c.(790-792)AAC>GAC	p.N264D		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	264	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCATCAGGTTGATGGAATTC	0.512000												
OVCH1	341350	broad.mit.edu	37	12	29614836	29614836	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:29614836T>G	uc001rix.1	-	19	2231	c.2231A>C	c.(2230-2232)AAG>ACG	p.K744T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	744	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAGATCATCTTCTCTGTGAT	0.473000												
OR11H6	122748	broad.mit.edu	37	14	20692369	20692369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:20692369G>A	uc010tlc.1	+	1	501	c.501G>A	c.(499-501)TGG>TGA	p.W167*		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	167	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTGTATGCTGGGTAGGCGGAT	0.498000												
TMEM229B	161145	broad.mit.edu	37	14	67940343	67940343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:67940343C>T	uc001xjk.2	-	3	708	c.298G>A	c.(298-300)GCC>ACC	p.A100T	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	100	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						CAGGGGCAGGCGTTGAACTGG	0.642000												
DIO2	1734	broad.mit.edu	37	14	80677629	80677629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr14:80677629C>T	uc010tvq.1	-	2	589	c.187G>A	c.(187-189)GTC>ATC	p.V63I	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.V63I|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.V63I|DIO2_uc010tvr.1_Missense_Mutation_p.V63I|DIO2_uc010asy.2_Missense_Mutation_p.V63I	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	63					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCTTCCAGACGCAGCGCAGT	0.612000												
STX8	9482	broad.mit.edu	37	17	9471725	9471725	+	Missense_Mutation	SNP	C	C	T	rs140592918		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:9471725C>T	uc002glx.2	-	2	230	c.80G>A	c.(79-81)CGA>CAA	p.R27Q		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	27	Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						ATATTGATTTCGTTGTTGAAT	0.368000												
TRIM16L	147166	broad.mit.edu	37	17	18638508	18638508	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:18638508C>A	uc002gug.1	+	10	1469	c.782C>A	c.(781-783)ACG>AAG	p.T261K	TRIM16L_uc010vyf.1_Missense_Mutation_p.T315K|TRIM16L_uc002guh.1_Missense_Mutation_p.T261K|TRIM16L_uc010cqg.1_Missense_Mutation_p.T363K|TRIM16L_uc002gui.1_Missense_Mutation_p.T261K|TRIM16L_uc010vyg.1_Missense_Mutation_p.T261K|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	261	B30.2/SPRY.					cytoplasm					0						AAGGAGTTCACGGCCTGGTAC	0.557000												
ALDH3A1	218	broad.mit.edu	37	17	19643782	19643782	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:19643782G>A	uc010cqu.2	-	6	1146	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y	ALDH3A1_uc010vzd.1_Silent_p.Y272Y|ALDH3A1_uc002gwj.2_Silent_p.Y272Y|ALDH3A1_uc010cqv.2_Silent_p.Y271Y|ALDH3A1_uc002gwk.2_Silent_p.Y389Y|ALDH3A1_uc002gwl.1_Silent_p.Y199Y	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	272					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCTTCCCCGTAGAACTCCT	0.527000												
CORO6	84940	broad.mit.edu	37	17	27943176	27943176	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:27943176G>A	uc002hel.2	-	9	1082	c.1080C>T	c.(1078-1080)GAC>GAT	p.D360D	CORO6_uc002hem.2_Silent_p.D126D|CORO6_uc002hen.2_Silent_p.D126D	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	360					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GGTACAGATCGTCCTGGAAGA	0.667000												
ATAD5	79915	broad.mit.edu	37	17	29219667	29219667	+	Missense_Mutation	SNP	G	G	C	rs147538471	byFrequency	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:29219667G>C	uc002hfs.1	+	20	4647	c.4301G>C	c.(4300-4302)GGC>GCC	p.G1434A		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1434					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAACATGGCCTTGATAAC	0.333000												
KRT28	162605	broad.mit.edu	37	17	38954584	38954584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:38954584C>T	uc002hvh.1	-	3	659	c.593G>A	c.(592-594)CGA>CAA	p.R198Q		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	198	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCCAGGACTCGCCGTAATCC	0.493000												
EZH1	2145	broad.mit.edu	37	17	40870044	40870044	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:40870044C>T	uc002iaz.2	-	10	1118	c.973G>A	c.(973-975)GAA>AAA	p.E325K	EZH1_uc002iba.2_Missense_Mutation_p.E316K|EZH1_uc010wgt.1_Missense_Mutation_p.E255K|EZH1_uc010wgu.1_Missense_Mutation_p.E331K|EZH1_uc010wgv.1_Missense_Mutation_p.E285K|EZH1_uc010wgw.1_Missense_Mutation_p.E186K|EZH1_uc010cyp.2_Missense_Mutation_p.E226K|EZH1_uc010cyq.2_Missense_Mutation_p.E242K|EZH1_uc010cys.2_Missense_Mutation_p.E276K|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_5'UTR	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	325					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ATCTTGATTTCTTTATTCTTG	0.403000												
KIF19	124602	broad.mit.edu	37	17	72346598	72346598	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:72346598G>T	uc002jkm.3	+	11	1410	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	KIF19_uc002jkj.2_Missense_Mutation_p.E424D|KIF19_uc002jkk.2_Missense_Mutation_p.E382D|KIF19_uc002jkl.2_Missense_Mutation_p.E382D	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	424	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGCTTCGGGAGCAGCTCGCCA	0.662000												
ENGASE	64772	broad.mit.edu	37	17	77082045	77082045	+	Silent	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:77082045C>T	uc002jwv.2	+	14	1854	c.1846C>T	c.(1846-1848)CTG>TTG	p.L616L	ENGASE_uc002jww.2_Silent_p.L321L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	616						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GCTGGCCCCTCTGCCCCAGGT	0.706000												
KATNAL2	83473	broad.mit.edu	37	18	44627365	44627365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr18:44627365G>A	uc002lco.2	+	15	1584	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	KATNAL2_uc002lcp.3_Missense_Mutation_p.E391K	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	536						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AAGAGAGTTCGAGTCTGTCTG	0.468000											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DSEL	92126	broad.mit.edu	37	18	65179255	65179255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr18:65179255C>T	uc002lke.1	-	2	3845	c.2621G>A	c.(2620-2622)GGA>GAA	p.G874E		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	864						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AATTTCAGCTCCTGAACCAGG	0.428000												
LDLR	3949	broad.mit.edu	37	19	11200076	11200076	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:11200076C>A	uc002mqk.3	+	1	20	c.-148C>A	c.(-150--146)CACTG>CAATG		LDLR_uc010xlk.1_Translation_Start_Site|LDLR_uc010xll.1_Translation_Start_Site|LDLR_uc010xlm.1_Translation_Start_Site|LDLR_uc010xln.1_Translation_Start_Site|LDLR_uc010xlo.1_Translation_Start_Site	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor						cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AATCACCCCACTGCAAACTCC	0.522000												
ELL	8178	broad.mit.edu	37	19	18561438	18561438	+	Silent	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:18561438C>T	uc002njh.2	-	8	1386	c.1314G>A	c.(1312-1314)AGG>AGA	p.R438R	ELL_uc010ebq.2_Silent_p.R381R|ELL_uc002njg.2_Silent_p.R305R	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	438					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCCGTGTGGCCTGCTGGGCT	0.692000			T	MLL	AL							
ATP4A	495	broad.mit.edu	37	19	36050082	36050082	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:36050082G>A	uc002oal.1	-	8	1097	c.1068C>T	c.(1066-1068)TCC>TCT	p.S356S	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	356	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGGCTGTCAGGGACAGGCAGA	0.627000												
ZNF382	84911	broad.mit.edu	37	19	37117675	37117675	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:37117675A>C	uc002oek.2	+	5	989	c.876A>C	c.(874-876)GAA>GAC	p.E292D	ZNF382_uc010efa.2_Missense_Mutation_p.E243D|ZNF382_uc010efb.2_Missense_Mutation_p.E291D|ZNF382_uc002oel.2_Missense_Mutation_p.E291D	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCAAACAGAAGAGAAACCCT	0.393000												
ZNF383	163087	broad.mit.edu	37	19	37734283	37734283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:37734283G>A	uc002oft.1	+	8	1725	c.1145G>A	c.(1144-1146)CGT>CAT	p.R382H	ZNF383_uc002ofs.1_Missense_Mutation_p.R317H|ZNF383_uc002ofu.1_Missense_Mutation_p.R382H	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	382	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACAGCTTCGTCAACATCAG	0.428000												
LIG1	3978	broad.mit.edu	37	19	48624487	48624487	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:48624487G>A	uc002pia.1	-	24	2445	c.2325C>T	c.(2323-2325)TAC>TAT	p.Y775Y	LIG1_uc010xze.1_Silent_p.Y468Y|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.Y707Y|LIG1_uc010xzg.1_Silent_p.Y744Y	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	775					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGAAGCCCCCGTACCGGCCGG	0.652000								NER				
KLK1	3816	broad.mit.edu	37	19	51322476	51322476	+	Missense_Mutation	SNP	C	C	T	rs138173062		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:51322476C>T	uc002ptk.1	-	5	802	c.763G>A	c.(763-765)GAG>AAG	p.E255K	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	255	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTCCTCGATCCACTTC	0.542000												
NLRP4	147945	broad.mit.edu	37	19	56369527	56369527	+	Silent	SNP	G	G	A	rs140962628	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:56369527G>A	uc002qmd.3	+	3	1190	c.768G>A	c.(766-768)CCG>CCA	p.P256P	NLRP4_uc002qmf.2_Silent_p.P181P|NLRP4_uc010etf.2_Silent_p.P87P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	256	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAAACGGCCGGTGCAGGTGC	0.582000												
ZNF416	55659	broad.mit.edu	37	19	58084322	58084322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr19:58084322T>C	uc002qpf.2	-	4	1121	c.950A>G	c.(949-951)CAC>CGC	p.H317R	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	317	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAACTCTGTGATGTTTAAT	0.438000												
SLC4A1AP	22950	broad.mit.edu	37	2	27887266	27887266	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:27887266G>C	uc002rlk.3	+	1	929	c.647G>C	c.(646-648)AGG>ACG	p.R216T	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	216	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					CTGCAGCACAGGGCGTCCGGC	0.597000												
LRP1B	53353	broad.mit.edu	37	2	141272252	141272252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:141272252C>T	uc002tvj.1	-	51	9211	c.8239G>A	c.(8239-8241)GAT>AAT	p.D2747N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2747	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAACCCATCCCCACAGTCA	0.363000										TSP Lung(27;0.18)		
CPS1	1373	broad.mit.edu	37	2	211540487	211540487	+	Silent	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:211540487C>T	uc002vee.3	+	36	4329	c.4197C>T	c.(4195-4197)AAC>AAT	p.N1399N	CPS1_uc010fur.2_Silent_p.N1405N|CPS1_uc010fus.2_Silent_p.N948N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1399					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACTGGCTCAACGCCAACAATG	0.438000												
TNS1	7145	broad.mit.edu	37	2	218712774	218712774	+	Silent	SNP	C	C	T	rs138064979	byFrequency	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr2:218712774C>T	uc002vgt.2	-	17	2489	c.2091G>A	c.(2089-2091)CCG>CCA	p.P697P	TNS1_uc002vgr.2_Silent_p.P697P|TNS1_uc002vgs.2_Silent_p.P697P|TNS1_uc010zjv.1_Silent_p.P697P|TNS1_uc010fvj.1_Silent_p.P765P|TNS1_uc010fvk.1_Silent_p.P822P|TNS1_uc010fvi.1_Silent_p.P384P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	697						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCTGCTCGCGGGAACTCAG	0.602000												
SIRPB1	10326	broad.mit.edu	37	20	1552595	1552595	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:1552595G>T	uc010gai.2	-	3	621	c.522C>A	c.(520-522)TTC>TTA	p.F174L	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	174	Ig-like C1-type 1.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CTCTGGGAGAGAAGCCATGGG	0.572000												
E2F1	1869	broad.mit.edu	37	20	32265097	32265097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:32265097C>T	uc002wzu.3	-	6	1020	c.880G>A	c.(880-882)GAT>AAT	p.D294N	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	294	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						AGGAAAACATCGATCGGGCCT	0.527000												
KCNB1	3745	broad.mit.edu	37	20	47991181	47991181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr20:47991181G>A	uc002xur.1	-	2	1080	c.916C>T	c.(916-918)CGC>TGC	p.R306C	KCNB1_uc002xus.1_Missense_Mutation_p.R306C	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	306	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAAGGATGCGGAGAATTCGC	0.532000												
SFRS15	57466	broad.mit.edu	37	21	33065757	33065757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr21:33065757G>A	uc002ypd.2	-	12	1789	c.1363C>T	c.(1363-1365)CGA>TGA	p.R455*	SFRS15_uc002ype.2_Nonsense_Mutation_p.R455*|SFRS15_uc010glu.2_Nonsense_Mutation_p.R440*|SFRS15_uc002ypf.1_Nonsense_Mutation_p.R129*	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	455						nucleus	nucleotide binding|RNA binding				0						CGAGACCTTCGAGATCTAGAA	0.458000												
CDCP1	64866	broad.mit.edu	37	3	45152099	45152099	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:45152099A>G	uc003com.2	-	4	1025	c.890T>C	c.(889-891)CTG>CCG	p.L297P	CDCP1_uc003con.2_Missense_Mutation_p.L297P	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	297	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTGTCCTCCAGCTTGAACAC	0.572000												
CELSR3	1951	broad.mit.edu	37	3	48696662	48696662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:48696662G>A	uc003cul.2	-	1	3687	c.3406C>T	c.(3406-3408)CAA>TAA	p.Q1136*	CELSR3_uc003cuf.1_Nonsense_Mutation_p.Q1206*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1136	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACATATTCTTGGCGAGCCTCA	0.537000												
ARHGAP31	57514	broad.mit.edu	37	3	119087339	119087339	+	Silent	SNP	T	T	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:119087339T>G	uc003ecj.3	+	3	856	c.324T>G	c.(322-324)ACT>ACG	p.T108T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	108	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTCCTGACTTATGAGCTCT	0.483000												
CP	1356	broad.mit.edu	37	3	148897410	148897410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:148897410G>A	uc003ewy.3	-	15	2847	c.2594C>T	c.(2593-2595)TCT>TTT	p.S865F	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.S17F|CP_uc003ewx.3_Missense_Mutation_p.S646F|CP_uc003ewz.2_Missense_Mutation_p.S865F	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	865	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCAGCTCCAGATCTTTCTGG	0.333000												
CP	1356	broad.mit.edu	37	3	148897421	148897421	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:148897421G>C	uc003ewy.3	-	15	2836	c.2583C>G	c.(2581-2583)ATC>ATG	p.I861M	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.I13M|CP_uc003ewx.3_Missense_Mutation_p.I642M|CP_uc003ewz.2_Missense_Mutation_p.I861M	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	861	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTTTCTGGGATTTTCCATA	0.308000												
GHSR	2693	broad.mit.edu	37	3	172165518	172165518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:172165518G>A	uc003fib.1	-	1	686	c.686C>T	c.(685-687)ACG>ATG	p.T229M	GHSR_uc011bpv.1_Missense_Mutation_p.T229M	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	229	Helical; Name=5; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTAGAGGACCGTGAGACAGAA	0.612000												
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:178928079G>A	uc003fjk.2	+	8	1514	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
EVC	2121	broad.mit.edu	37	4	5798905	5798905	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:5798905G>T	uc003gil.1	+	14	2227	c.2043G>T	c.(2041-2043)GAG>GAT	p.E681D	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	681					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GTGCACTGGAGCAGGGGTCCT	0.677000												
PDGFRA	5156	broad.mit.edu	37	4	55161419	55161419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:55161419G>A	uc003han.3	+	23	3581	c.3250G>A	c.(3250-3252)GTG>ATG	p.V1084M	PDGFRA_uc003haa.2_Missense_Mutation_p.V844M	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	1084	Ser-rich.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCAGACCTGGTGGAAGACAG	0.512000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
PRDM5	11107	broad.mit.edu	37	4	121702362	121702362	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:121702362T>G	uc003idn.2	-	12	1629	c.1379A>C	c.(1378-1380)AAG>ACG	p.K460T	PRDM5_uc003ido.2_Missense_Mutation_p.K429T|PRDM5_uc010ine.2_Missense_Mutation_p.K429T	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	460					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						ACACCTATACTTCTTGTGTCT	0.393000												
FAT4	79633	broad.mit.edu	37	4	126389829	126389829	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:126389829A>G	uc003ifj.3	+	11	12062	c.12062A>G	c.(12061-12063)GAC>GGC	p.D4021G	FAT4_uc011cgp.1_Missense_Mutation_p.D2284G|FAT4_uc003ifi.1_Missense_Mutation_p.D1499G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4021	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGACAGGCGACCGGGCTGAG	0.403000												
PCDH10	57575	broad.mit.edu	37	4	134072673	134072673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:134072673G>A	uc003iha.2	+	1	2204	c.1378G>A	c.(1378-1380)GCG>ACG	p.A460T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A460T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	460	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAACGACAACGCGCCGCGTTT	0.617000												
DCHS2	54798	broad.mit.edu	37	4	155254497	155254497	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:155254497C>T	uc003inw.2	-	9	1366	c.1366G>A	c.(1366-1368)GGC>AGC	p.G456S	DCHS2_uc003inx.2_Missense_Mutation_p.G955S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	456	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)		GGGGCGCTGCCGAGCTGCGCC	0.597000												
FGA	2243	broad.mit.edu	37	4	155507816	155507816	+	Silent	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:155507816C>T	uc003iod.1	-	5	823	c.765G>A	c.(763-765)CCG>CCA	p.P255P	FGA_uc003ioe.1_Silent_p.P255P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	255	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCTCATCTGCGGCATGTCTG	0.493000												
MAP9	79884	broad.mit.edu	37	4	156294393	156294393	+	Missense_Mutation	SNP	C	C	A	rs145558165		TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr4:156294393C>A	uc003ios.2	-	4	640	c.376G>T	c.(376-378)GTA>TTA	p.V126L	MAP9_uc011cin.1_Missense_Mutation_p.V126L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.V126L|MAP9_uc010iqb.1_Missense_Mutation_p.V54L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	126					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAGATTTTACAACAATGTCT	0.338000												
IRX1	79192	broad.mit.edu	37	5	3599908	3599908	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:3599908G>T	uc003jde.2	+	2	898	c.846G>T	c.(844-846)TTG>TTT	p.L282F		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						ACTCGCCCTTGGGCCTGGCAA	0.746000												
SEMA5A	9037	broad.mit.edu	37	5	9380056	9380056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:9380056C>T	uc003jek.2	-	3	715	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AGGTTCCCTTCATGGTGGGCA	0.547000												
CDH18	1016	broad.mit.edu	37	5	19473796	19473796	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:19473796G>A	uc003jgc.2	-	12	2289	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	CDH18_uc003jgd.2_Missense_Mutation_p.R638C|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	638	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTTGCTGCGCCTCAGGGTG	0.433000												
RXFP3	51289	broad.mit.edu	37	5	33936946	33936946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:33936946C>T	uc003jic.1	+	1	458	c.101C>T	c.(100-102)GCG>GTG	p.A34V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	34	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CTTCTGGAGGCGGCCAACACG	0.647000												
GABRA6	2559	broad.mit.edu	37	5	161128646	161128646	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:161128646C>A	uc003lyu.2	+	9	1567	c.1229C>A	c.(1228-1230)GCC>GAC	p.A410D	GABRA6_uc003lyv.2_Missense_Mutation_p.A181D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	410	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCTCGCCAGCCTTTGGAGGC	0.468000										TCGA Ovarian(5;0.080)		
NSD1	64324	broad.mit.edu	37	5	176719013	176719013	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:176719013A>T	uc003mfr.3	+	22	6455	c.6317A>T	c.(6316-6318)AAG>ATG	p.K2106M	NSD1_uc003mft.3_Missense_Mutation_p.K1837M|NSD1_uc011dfx.1_Missense_Mutation_p.K1754M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2106					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAACAGGGAAAGCGCAGGACC	0.478000			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
HNRNPAB	3182	broad.mit.edu	37	5	177637620	177637620	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr5:177637620A>C	uc003miu.2	+	8	1252	c.995A>C	c.(994-996)TAC>TCC	p.Y332S	HNRNPAB_uc003miv.2_Missense_Mutation_p.Y285S|HNRNPAB_uc010jks.2_Missense_Mutation_p.Y283S|HNRNPAB_uc003miw.2_Missense_Mutation_p.Y332S|HNRNPAB_uc003mix.2_Missense_Mutation_p.Y285S|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	332					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						TACAAGCCATACTGAGGCGGC	0.428000												
GABBR1	2550	broad.mit.edu	37	6	29591798	29591798	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr6:29591798C>A	uc003nmt.3	-	7	997	c.661G>T	c.(661-663)GAT>TAT	p.D221Y	GABBR1_uc003nmp.3_Missense_Mutation_p.D104Y|GABBR1_uc003nms.3_Missense_Mutation_p.D104Y|GABBR1_uc003nmu.3_Missense_Mutation_p.D159Y|GABBR1_uc011dlr.1_Missense_Mutation_p.D44Y|GABBR1_uc011dls.1_Missense_Mutation_p.D221Y	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	221	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGGCCTGGATCACACTGAAAG	0.517000												
COL1A2	1278	broad.mit.edu	37	7	94056548	94056548	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:94056548C>A	uc003ung.1	+	48	3679	c.3208C>A	c.(3208-3210)CAT>AAT	p.H1070N	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1070					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCGCACTGGACATCCTGGTAC	0.542000										HNSCC(75;0.22)		
SPAM1	6677	broad.mit.edu	37	7	123594445	123594445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:123594445C>T	uc003vld.2	+	4	1223	c.821C>T	c.(820-822)GCT>GTT	p.A274V	SPAM1_uc003vle.2_Missense_Mutation_p.A274V|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.A274V|SPAM1_uc010lku.2_Missense_Mutation_p.A274V	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	274					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CCTGTAGCTGCTACACTCTAT	0.423000												
SSPO	23145	broad.mit.edu	37	7	149489292	149489292	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:149489292C>T	uc010lpk.2	+	37	5537	c.5537C>T	c.(5536-5538)CCG>CTG	p.P1846L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1846	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGCAGCCCGGGTAAGGGG	0.667000												
MLL3	58508	broad.mit.edu	37	7	151878863	151878863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:151878863G>A	uc003wla.2	-	36	6301	c.6082C>T	c.(6082-6084)CGA>TGA	p.R2028*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1089*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2028	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AACAAGGGTCGTGCATATGAG	0.473000			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151970925	151970925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:151970925C>T	uc003wla.2	-	7	1096	c.877G>A	c.(877-879)GCC>ACC	p.A293T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	293					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGATAGTGGCTCCAAGGTGC	0.418000			N		medulloblastoma							
PRKDC	5591	broad.mit.edu	37	8	48743232	48743232	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:48743232G>A	uc003xqi.2	-	62	8388	c.8331C>T	c.(8329-8331)CAC>CAT	p.H2777H	PRKDC_uc003xqj.2_Silent_p.H2777H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2777	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAGGTCTCCGTGCCGGTAGC	0.502000								NHEJ				
DPYS	1807	broad.mit.edu	37	8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:105405182A>C	uc003yly.3	-	8	1402	c.1273T>G	c.(1273-1275)TTC>GTC	p.F425V	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423000												
ZFP41	286128	broad.mit.edu	37	8	144332286	144332286	+	Silent	SNP	G	G	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr8:144332286G>A	uc003yxw.2	+	2	631	c.273G>A	c.(271-273)GAG>GAA	p.E91E	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	91	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGTGCAGTGAGTGTGGGCGGA	0.517000												
FRMD3	257019	broad.mit.edu	37	9	86004624	86004624	+	Splice_Site	SNP	C	C	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr9:86004624C>G	uc004ams.1	-	2	350	c.148_splice	c.e2-1	p.R50_splice	FRMD3_uc004amr.1_Splice_Site_p.R36_splice	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TGGTTTCCCTCTGCAAAGGAA	0.488000												
KIAA1984	84960	broad.mit.edu	37	9	139699029	139699029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr9:139699029A>C	uc004cjf.2	+	7	790	c.742A>C	c.(742-744)AAG>CAG	p.K248Q	LOC100131193_uc004cjg.1_RNA	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	248										ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGCAGAAGAAGCTGATCGA	0.637000												
ATP7A	538	broad.mit.edu	37	X	77245091	77245091	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:77245091T>A	uc004ecx.3	+	4	1133	c.973T>A	c.(973-975)TCA>ACA	p.S325T	ATP7A_uc004ecw.2_Missense_Mutation_p.S325T	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	325	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TAATGCAAGCTCAGTCACTCC	0.398000												
GPR174	84636	broad.mit.edu	37	X	78426685	78426685	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:78426685T>A	uc004edg.1	+	1	217	c.181T>A	c.(181-183)TTA>ATA	p.L61I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	61	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TATGATAAACTTAGCCATTGC	0.408000										HNSCC(63;0.18)		
IGSF1	3547	broad.mit.edu	37	X	130408109	130408109	+	Silent	SNP	A	A	G			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chrX:130408109A>G	uc004ewd.2	-	19	4061	c.3823T>C	c.(3823-3825)TTG>CTG	p.L1275L	IGSF1_uc004ewe.3_Silent_p.L1269L|IGSF1_uc004ewf.2_Silent_p.L1255L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1275	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACTACCCCCAAGGCTACAACA	0.527000												
MLL2	8085	broad.mit.edu	37	12	49431910	49431911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:49431910_49431911insA	uc001rta.3	-	34	9228_9229	c.9228_9229insT	c.(9226-9231)GCTAATfs	p.A3076fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3076_3077					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						GCCTTCTCATTAGCCGATTCTA	0.599			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
IGSF10	285313	broad.mit.edu	37	3	151164364	151164364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr3:151164364delT	uc011bod.1	-	4	3405	c.3405delA	c.(3403-3405)CAAfs	p.Q1135fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1135					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGAGTCACTTGGGAAATTT	0.418												
ZNF107	51427	broad.mit.edu	37	7	64166935	64166936	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr7:64166934_64166935CTT>C	uc003ttd.3	+	6	1038_1039	c.252_253CTT>C	c.(250-255)gtctttfs	p.V84fs	ZNF107_uc003tte.3_Frame_Shift_Del_p.V84fs	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATGTGAAAGTCTTTGATAAATT	0.337												
CLECL1	160365	broad.mit.edu	37	12	9885708	9885709	+	Frame_Shift_Ins	INS	-	-	TAAGT	rs112979434	by1000genomes	TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:9885707_9885708A>ATAAGT	uc001qwi.3	-	0	188_189	c.153_154T>ACTTAT	c.(151-156)ttatcafs	p.L51fs	CLECL1_uc001qwj.3_Frame_Shift_Ins_p.L51fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	51						integral to membrane|plasma membrane	sugar binding	p.S52fs*26(2)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						GAAACTTCTGATAAGTAAATTG	0.401												
MLL2	8085	broad.mit.edu	37	12	49431911	49431912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr12:49431910_49431911T>TA	uc001rta.4	-	33	9228_9229	c.9228_9229A>TA	c.(9226-9231)gctaatfs	p.A3076fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3076					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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCTTCTCATTAGCCGATTCTA	0.599			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ANKFY1	51479	broad.mit.edu	37	17	4086813	4086832	+	Frame_Shift_Del	DEL	GAGCCCAGCAGCTGGGCTGC	GAGCCCAGCAGCTGGGCTGC	-			TCGA-BR-8676-01A-11D-2394-08	TCGA-BR-8676-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bb64cc8-686e-4772-a260-9c927470a90a	bd265d39-285a-4bbb-9f49-08e1c80878d2	g.chr17:4086812_4086831AGAGCCCAGCAGCTGGGCTGC>A	uc002fxn.3	-	13	2057_2076	c.1940_1959GCAGCCCAGCTGCTGGGCTCT>T	c.(1939-1959)gcagcccagctgctgggctctfs	p.A647fs	ANKFY1_uc002fxo.3_Frame_Shift_Del_p.A605fs|ANKFY1_uc002fxp.3_Frame_Shift_Del_p.A604fs|ANKFY1_uc010ckp.3_Frame_Shift_Del_p.A546fs|ANKFY1_uc002fxq.1_Frame_Shift_Del_p.A605fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	605						endosome membrane	metal ion binding|protein binding	p.V650V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGCGGCTCCAGAGCCCAGCAGCTGGGCTGCGATCGTGTG	0.591