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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
MEN1	4221	broad.mit.edu	36	11	64332097	64332097	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64332097G>A	uc001obj.1	-	c.511C>T	c.(511-513)CAG>TAG	p.Q171*	MEN1_uc001obk.1_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.1_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.1_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.1_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.1_Nonsense_Mutation_p.Q171*|MEN1_uc001obp.1_Nonsense_Mutation_p.Q166*|MEN1_uc001obq.1_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.1_Nonsense_Mutation_p.Q171*	NM_130800	NP_570716	O00255	MEN1_HUMAN	menin isoform 1	171			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|R-SMAD binding|Y-form DNA binding	p.Q166*(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(8)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	237						Esophageal Squamous(1;83 158 15500 18603 18803 29295)				75				0.5	64.324269	64.324269	22	22	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	64332097	64332097	9861	11	G	A	A	47	47	MEN1	A	5	2
JAG2	3714	broad.mit.edu	36	14	104685720	104685720	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104685720T>G	uc001yqg.1	-	c.2122A>C	c.(2122-2124)ACC>CCC	p.T708P	JAG2_uc010axf.1_5'Flank|JAG2_uc001yqf.1_Missense_Mutation_p.T112P|JAG2_uc001yqh.1_Missense_Mutation_p.T670P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	708	Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)	3		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)								501				0.5	8.769465	8.769465	4	4	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	Missense_Mutation	SNP	104685720	104685720	8239	14	T	G	G	58	58	JAG2	G	4	4
SLC27A2	11001	broad.mit.edu	36	15	48261957	48261957	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48261957T>C	uc001zxw.1	+	c.41T>C	c.(40-42)TTC>TCC	p.F14S	SLC27A2_uc010bes.1_Missense_Mutation_p.F14S	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	14	Helical; (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)	1		all_lung(180;0.00177)												0.285714	7.592022	8.170802	4	10	TT		KEEP	---	---	---	---	capture		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	Missense_Mutation	SNP	48261957	48261957	15023	15	T	C	C	62	62	SLC27A2	C	4	4
RNF40	9810	broad.mit.edu	36	16	30682344	30682344	+	Silent	SNP	G	A	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30682344G>A	uc002dzq.1	+	c.405G>A	c.(403-405)GGG>GGA	p.G135G	C16orf93_uc002dzm.1_5'Flank|C16orf93_uc002dzn.1_5'Flank|C16orf93_uc002dzo.1_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.1_Silent_p.G135G|RNF40_uc010cab.1_Silent_p.G135G|RNF40_uc002dzr.1_Silent_p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	135					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1														0.144144	21.961986	35.470859	16	95	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Silent	SNP	30682344	30682344	13972	16	G	A	A	41	41	RNF40	A	2	2
JPH3	57338	broad.mit.edu	36	16	86280926	86280926	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5218-01	TCGA-28-5218-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86280926A>C	uc002fkd.1	+	c.1459A>C	c.(1459-1461)ACC>CCC	p.T487P		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	487	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2														0.5	6.710864	6.710863	3	3	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0287)	Missense_Mutation	SNP	86280926	86280926	8266	16	A	C	C	6	6	JPH3	C	4	4
MRM1	79922	broad.mit.edu	36	17	32032798	32032798	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32032798T>C	uc002hne.1	+	c.446T>C	c.(445-447)GTC>GCC	p.V149A	MRM1_uc002hnf.1_Intron	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	149					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)												0.242424	7.942533	10.091557	8	25	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	Missense_Mutation	SNP	32032798	32032798	10164	17	T	C	C	58	58	MRM1	C	4	4
C19orf10	56005	broad.mit.edu	36	19	4619644	4619644	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4619644C>T	uc002may.1	-	c.188G>A	c.(187-189)TGT>TAT	p.C63Y		NM_019107	NP_061980	Q969H8	CS010_HUMAN	hypothetical protein LOC56005	63						ER-Golgi intermediate compartment|extracellular region					0		Hepatocellular(1079;0.137)												0.37234	92.992588	94.341285	35	59	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	Missense_Mutation	SNP	4619644	4619644	1970	19	C	T	T	17	17	C19orf10	T	2	2
NLRP5	126206	broad.mit.edu	36	19	61231029	61231029	+	Missense_Mutation	SNP	T	A	A			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61231029T>A	uc002qmj.1	+	c.1618T>A	c.(1618-1620)TGG>AGG	p.W540R	NLRP5_uc002qmi.1_Missense_Mutation_p.W521R	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	540	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)												0.354839	55.397852	56.563012	22	40	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0326)	Missense_Mutation	SNP	61231029	61231029	10883	19	T	A	A	59	59	NLRP5	A	4	4
ZNF317	57693	broad.mit.edu	36	19	9128420	9128420	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9128420C>T	uc002mku.2	+	c.158C>T	c.(157-159)TCC>TTC	p.S53F	ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Missense_Mutation_p.S53F|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.405556	213.033128	214.438289	73	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9128420	9128420	18427	19	C	T	T	30	30	ZNF317	T	2	2
HMCN1	83872	broad.mit.edu	36	1	184388616	184388616	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184388616T>G	uc001grq.1	+	c.15008T>G	c.(15007-15009)GTC>GGC	p.V5003G	HMCN1_uc001grs.1_Missense_Mutation_p.V572G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	5003	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.170492	118.025813	149.511348	52	253	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184388616	184388616	7511	1	T	G	G	58	58	HMCN1	G	4	4
OBSCN	84033	broad.mit.edu	36	1	226626274	226626274	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226626274C>T	uc009xez.1	+	c.21172C>T	c.(21172-21174)CCT>TCT	p.P7058S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7058	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.152174	20.992426	31.651422	14	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226626274	226626274	11217	1	C	T	T	30	30	OBSCN	T	2	2
ZBTB40	9923	broad.mit.edu	36	1	22707634	22707634	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22707634G>T	uc001bft.2	+	c.1522G>T	c.(1522-1524)GAC>TAC	p.D508Y	ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	508					regulation of transcription, DNA-dependent|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)												0.625	351.44806	353.966761	115	69	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	22707634	22707634	18128	1	G	T	T	45	45	ZBTB40	T	3	3
PPCS	79717	broad.mit.edu	36	1	42694899	42694899	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:42694899T>C	uc001chl.1	+	c.76T>C	c.(76-78)TTC>CTC	p.F26L	ZMYND12_uc001chj.1_5'Flank|PPCS_uc001chk.1_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	26					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.363636	9.395398	9.575951	4	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42694899	42694899	12735	1	T	C	C	56	56	PPCS	C	4	4
SNRPB	6628	broad.mit.edu	36	20	2391779	2391779	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2391779C>T	uc002wfz.1	-	c.515G>A	c.(514-516)CGT>CAT	p.R172H	SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc002wgb.2_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	172				RG -> L (in Ref. 4).	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1														0.474419	282.226602	282.348776	102	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2391779	2391779	15361	20	C	T	T	19	19	SNRPB	T	1	1
FIGN	55137	broad.mit.edu	36	2	164175862	164175862	+	Silent	SNP	G	A	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:164175862G>A	uc002uck.1	-	c.726C>T	c.(724-726)CTC>CTT	p.L242L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	242	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.447059	112.934736	113.142869	38	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	164175862	164175862	6129	2	G	A	A	33	33	FIGN	A	2	2
SENP5	205564	broad.mit.edu	36	3	198097517	198097517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198097517G>A	uc003fwz.2	+	c.1068G>A	c.(1066-1068)TGG>TGA	p.W356*		NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	356					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			lung(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)					Ovarian(47;891 1095 11174 13858 51271)								0.655172	189.398126	191.246881	57	30	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	Nonsense_Mutation	SNP	198097517	198097517	14535	3	G	A	A	43	43	SENP5	A	5	2
EPHA1	2041	broad.mit.edu	36	7	142808559	142808559	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-5218-01	TCGA-28-5218-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142808559G>A	uc003wcz.1	-	c.412C>T	c.(412-414)CGA>TGA	p.R138*		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1	138	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)								379				0.15508	94.282117	136.752119	58	316	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	142808559	142808559	5358	7	G	A	A	39	39	EPHA1	A	5	1
SSPO	23145	broad.mit.edu	36	7	149131080	149131080	+	Silent	SNP	T	G	G			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149131080T>G	uc010lpk.1	+	c.7773T>G	c.(7771-7773)GGT>GGG	p.G2591G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin	2591	TSP type-1 5.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)													0.333333	7.921785	8.143298	3	6	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		Silent	SNP	149131080	149131080	15705	7	T	G	G	59	59	SSPO	G	4	4
ATP6V1C1	528	broad.mit.edu	36	8	104144434	104144434	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104144434C>G	uc003ykz.2	+	c.717C>G	c.(715-717)CAC>CAG	p.H239Q	ATP6V1C1_uc010mbz.1_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.1_Missense_Mutation_p.H239Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)													0.304029	270.920162	280.27592	83	190	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		Missense_Mutation	SNP	104144434	104144434	1199	8	C	G	G	17	17	ATP6V1C1	G	3	3
LRRC6	23639	broad.mit.edu	36	8	133714304	133714304	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5218-01	TCGA-28-5218-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:133714304C>T	uc003ytk.1	-	c.517G>A	c.(517-519)GAA>AAA	p.E173K	LRRC6_uc010mdu.1_Missense_Mutation_p.E173K|LRRC6_uc003ytl.1_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	173						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)													0.471014	589.049801	589.346068	195	219	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000311)		Missense_Mutation	SNP	133714304	133714304	9391	8	C	T	T	30	30	LRRC6	T	2	2
OTC	5009	broad.mit.edu	36	X	38145573	38145573	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5218-01	TCGA-28-5218-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:38145573T>C	uc004def.2	+	c.488T>C	c.(487-489)CTG>CCG	p.L163P		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	163					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)									0.695652	217.726179	220.867411	64	28	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38145573	38145573	11713	23	T	C	C	55	55	OTC	C	4	4
INPPL1	3636	broad.mit.edu	36	11	71620234	71620234	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-5218-01	TCGA-28-5218-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71620234_71620234delC	uc001osf.1	+	c.1542_1542delC	c.(1540-1542)GTCfs	p.V514fs	INPPL1_uc001osg.1_Frame_Shift_Del_p.V272fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	514					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)	3														0.59			58	40				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	71620234	71620234	8062	11	C	-	-	29	29	INPPL1	-	5	5
SESN3	143686	broad.mit.edu	36	11	94564401	94564404	+	Frame_Shift_Del	DEL	TTGC	-	-			TCGA-28-5218-01	TCGA-28-5218-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94564401_94564404delTTGC	uc001pfk.1	-	c.154_157delGCAA	c.(154-159)GCAAACfs	p.A52fs	SESN3_uc001pfl.1_Frame_Shift_Del_p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	52_53					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)										0.55			65	54				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	94564401	94564404	14614	11	TTGC	-	-	64	64	SESN3	-	5	5
MRPS34	65993	broad.mit.edu	36	16	1763075	1763076	+	Frame_Shift_Ins	INS	-	G	G			TCGA-28-5218-01	TCGA-28-5218-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1763075_1763076insG	uc002cmp.1	-	c.46_47insC	c.(46-48)CGCfs	p.R16fs	NME3_uc002cmm.1_5'Flank|NME3_uc010brv.1_5'Flank|MRPS34_uc002cmn.1_5'Flank|MRPS34_uc002cmo.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	16						mitochondrion|ribosome	protein binding				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	1763075	1763076	10236	16	-	G	G	27	27	MRPS34	G	5	5
IRF5	3663	broad.mit.edu	36	7	128374603	128374617	+	Splice_Site_Del	DEL	ACTCTGCGGCCGCCT	-	-			TCGA-28-5218-01	TCGA-28-5218-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128374603_128374617delACTCTGCGGCCGCCT	uc003vog.1	+	c.e7_splice_site			IRF5_uc010llr.1_In_Frame_Del_p.LCGRL162del|IRF5_uc010lls.1_In_Frame_Del_p.LCGRL162del|IRF5_uc003voh.1_Splice_Site_Del|IRF5_uc010llt.1_Intron|IRF5_uc003voi.1_Splice_Site_Del|IRF5_uc003vok.2_3'UTR|IRF5_uc010llu.1_In_Frame_Del_p.LCGRL162del|IRF5_uc003voj.2_Splice_Site_Del|IRF5_uc010llv.1_3'UTR|IRF5_uc010llw.1_In_Frame_Del_p.LCGRL162del	NM_002200	NP_002191			interferon regulatory factor 5 isoform a						interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.70			23	10				---	---	---	---	capture_indel			Splice_Site_Del	DEL	128374603	128374617	8136	7	ACTCTGCGGCCGCCT	-	-	6	6	IRF5	-	5	5
