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
OR52M1	119772	broad.mit.edu	36	11	4523258	4523258	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0616-01	TCGA-12-0616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4523258T>C	uc001lzb.1	+	c.262T>C	c.(262-264)TGG>CGG	p.W88R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.62069	247.124171	248.605634	72	44	TT		KEEP	---	---	---	---	capture		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4523258	4523258	11536	11	T	C	C	55	55	OR52M1	C	4	4
OR8H2	390151	broad.mit.edu	36	11	55629246	55629246	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55629246G>A	uc001nih.1	+	c.152G>A	c.(151-153)CGC>CAC	p.R51H		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.164414	138.037107	185.484789	73	371	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55629246	55629246	11649	11	G	A	A	38	38	OR8H2	A	1	1
LRRC55	219527	broad.mit.edu	36	11	56706651	56706651	+	Silent	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56706651C>T	uc001njl.1	+	c.708C>T	c.(706-708)ATC>ATT	p.I236I		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	206						integral to membrane					0														0.243655	119.402639	131.201527	48	149	CC		KEEP	---	---	---	---	capture			Silent	SNP	56706651	56706651	9386	11	C	T	T	31	31	LRRC55	T	1	1
OR56A3	390083	broad.mit.edu	36	11	5925378	5925378	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5925378G>A	uc001mcc.1	+	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.695455	503.671162	511.197596	153	67	GG		KEEP	---	---	---	---	capture		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5925378	5925378	11544	11	G	A	A	40	40	OR56A3	A	1	1
SF3B2	10992	broad.mit.edu	36	11	65587093	65587093	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65587093A>G	uc001ogy.1	+	c.2015A>G	c.(2014-2016)AAA>AGA	p.K672R		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	672					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.527273	101.379296	101.414941	29	26	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65587093	65587093	14640	11	A	G	G	1	1	SF3B2	G	4	4
RIC3	79608	broad.mit.edu	36	11	8147009	8147009	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0616-01	TCGA-12-0616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8147009T>C	uc001mgd.1	-	c.104A>G	c.(103-105)GAG>GGG	p.E35G	RIC3_uc001mgc.1_Missense_Mutation_p.E35G|RIC3_uc009yfm.1_Missense_Mutation_p.E35G|RIC3_uc001mge.1_Missense_Mutation_p.E35G|RIC3_uc009yfn.1_5'UTR|RIC3_uc001mgf.2_Missense_Mutation_p.E35G	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	35	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3														0.307692	7.998696	8.425643	4	9	TT		KEEP	---	---	---	---	capture		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	Missense_Mutation	SNP	8147009	8147009	13829	11	T	C	C	54	54	RIC3	C	4	4
LPAR5	57121	broad.mit.edu	36	12	6599850	6599850	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6599850G>A	uc001qps.1	-	c.826C>T	c.(826-828)CGC>TGC	p.R276C	LPAR5_uc009zer.1_Missense_Mutation_p.R276C	NM_020400	NP_065133	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	276	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						NSCLC(74;891 2312 37538)								0.642857	24.965117	25.213695	9	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6599850	6599850	9281	12	G	A	A	38	38	LPAR5	A	1	1
PCCA	5095	broad.mit.edu	36	13	99607555	99607555	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:99607555A>G	uc001voo.1	+	c.428A>G	c.(427-429)TAT>TGT	p.Y143C	PCCA_uc010aga.1_Missense_Mutation_p.Y117C	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	143	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)									0.478873	129.352576	129.379777	34	37	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99607555	99607555	11924	13	A	G	G	16	16	PCCA	G	4	4
NPAS3	64067	broad.mit.edu	36	14	33339880	33339880	+	Silent	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:33339880C>T	uc001wru.1	+	c.2616C>T	c.(2614-2616)CTC>CTT	p.L872L	NPAS3_uc001wrt.1_Silent_p.L840L|NPAS3_uc001wrv.1_Silent_p.L842L|NPAS3_uc001wrs.1_Silent_p.L859L	NM_022123	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 1	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			ovary(1)	1	Breast(36;0.0102)|Hepatocellular(127;0.133)													0.5	27.773303	27.773303	9	9	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	Silent	SNP	33339880	33339880	10968	14	C	T	T	32	32	NPAS3	T	2	2
CACNG3	10368	broad.mit.edu	36	16	24273771	24273771	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24273771G>A	uc002dmf.1	+	c.412G>A	c.(412-414)GCG>ACG	p.A138T		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	138	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0														0.385542	91.184748	92.136088	32	51	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0809)	Missense_Mutation	SNP	24273771	24273771	2674	16	G	A	A	38	38	CACNG3	A	1	1
DDX28	55794	broad.mit.edu	36	16	66614333	66614333	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66614333G>A	uc002evh.1	-	c.274C>T	c.(274-276)CTA>TTA	p.L92L	DUS2L_uc002evi.1_5'Flank|DUS2L_uc002evj.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	92						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)												0.307692	9.496821	9.924665	4	9	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	Silent	SNP	66614333	66614333	4526	16	G	A	A	34	34	DDX28	A	2	2
DLX3	1747	broad.mit.edu	36	17	45427314	45427314	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45427314G>A	uc002ipy.1	-	c.48C>T	c.(46-48)ATC>ATT	p.I16I		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	16					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.444444	119.479012	119.722222	40	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	45427314	45427314	4752	17	G	A	A	33	33	DLX3	A	2	2
ABCA6	23460	broad.mit.edu	36	17	64622602	64622602	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64622602C>T	uc002jhw.1	-	c.1678G>A	c.(1678-1680)GTC>ATC	p.V560I	ABCA6_uc002jhx.1_Missense_Mutation_p.V13I	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	560	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.333333	111.585281	114.463916	39	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64622602	64622602	37	17	C	T	T	19	19	ABCA6	T	1	1
PCSK4	54760	broad.mit.edu	36	19	1434418	1434418	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1434418C>A	uc002ltb.1	-	c.1436G>T	c.(1435-1437)TGC>TTC	p.C479F	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.C291F	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	479					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)												0.176471	7.436756	10.817129	6	28	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	1434418	1434418	12023	19	C	A	A	25	25	PCSK4	A	3	3
JOSD2	126119	broad.mit.edu	36	19	55701526	55701526	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55701526G>A	uc002psn.1	-	c.388C>T	c.(388-390)CGC>TGC	p.R130C	JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	130	Josephin.				protein deubiquitination		ubiquitin-specific protease activity				0		all_neural(266;0.131)												0.428571	15.045573	15.108143	6	8	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	Missense_Mutation	SNP	55701526	55701526	8263	19	G	A	A	38	38	JOSD2	A	1	1
S100A7A	338324	broad.mit.edu	36	1	151658352	151658352	+	Silent	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151658352C>T	uc001fbt.1	+	c.249C>T	c.(247-249)GCC>GCT	p.A83A		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	83	EF-hand 2.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)													0.449541	156.792781	157.028968	49	60	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Silent	SNP	151658352	151658352	14264	1	C	T	T	23	23	S100A7A	T	1	1
FDPS	2224	broad.mit.edu	36	1	153554407	153554407	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153554407C>T	uc001fkc.1	+	c.532C>T	c.(532-534)CGC>TGC	p.R178C	FDPS_uc001fkd.1_Missense_Mutation_p.R112C|FDPS_uc001fke.1_Missense_Mutation_p.R178C|FDPS_uc001fkf.1_Missense_Mutation_p.R112C|FDPS_uc001fkg.1_Missense_Mutation_p.R178C|C1orf104_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	178		Dimethylallyl diphosphate.			cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)				Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)									0.308333	110.23306	114.160389	37	83	CC		KEEP	---	---	---	---	capture	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Missense_Mutation	SNP	153554407	153554407	6040	1	C	T	T	23	23	FDPS	T	1	1
ADCY10	55811	broad.mit.edu	36	1	166073110	166073110	+	Splice_Site_SNP	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166073110C>T	uc001ger.1	-	c.3077_splice	c.e22+1	p.S1026_splice	ADCY10_uc009wvk.1_Splice_Site_SNP_p.S934_splice	NM_018417	NP_060887			soluble adenylyl cyclase						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.?(1)		central_nervous_system(2)|ovary(1)	3														0.358491	111.717166	113.587914	38	68	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	166073110	166073110	294	1	C	T	T	18	18	ADCY10	T	5	2
PADI3	51702	broad.mit.edu	36	1	17465801	17465801	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17465801C>T	uc001bai.1	+	c.409C>T	c.(409-411)CGG>TGG	p.R137W		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidylarginine deiminase type III	137					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			L-Citrulline(DB00155)									0.348837	77.037934	78.764813	30	56	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	Missense_Mutation	SNP	17465801	17465801	11795	1	C	T	T	27	27	PADI3	T	1	1
HSPG2	3339	broad.mit.edu	36	1	22059299	22059299	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22059299C>T	uc009vqd.1	-	c.4975G>A	c.(4975-4977)GTG>ATG	p.V1659M	HSPG2_uc001bfj.1_Missense_Mutation_p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.333333	51.03777	52.363323	18	36	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Missense_Mutation	SNP	22059299	22059299	7730	1	C	T	T	19	19	HSPG2	T	1	1
TMEM63A	9725	broad.mit.edu	36	1	224107048	224107048	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:224107048G>A	uc001hpm.1	-	c.1843C>T	c.(1843-1845)CTG>TTG	p.L615L		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	615	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)													0.265625	44.342895	47.521813	17	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	224107048	224107048	16729	1	G	A	A	34	34	TMEM63A	A	2	2
TTC39A	22996	broad.mit.edu	36	1	51541350	51541350	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:51541350C>T	uc001csl.1	-	c.865G>A	c.(865-867)GTG>ATG	p.V289M	TTC39A_uc001csk.1_Missense_Mutation_p.V254M|TTC39A_uc001csm.1_Missense_Mutation_p.V200M|TTC39A_uc001csn.2_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	289							binding			skin(1)	1														0.444444	23.396089	23.444696	8	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51541350	51541350	17262	1	C	T	T	19	19	TTC39A	T	1	1
CELSR1	9620	broad.mit.edu	36	22	45172269	45172269	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45172269G>A	uc003bhw.1	-	c.5667C>T	c.(5665-5667)GAC>GAT	p.D1889D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1889	Extracellular (Potential).|EGF-like 5; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.375	24.163153	24.494144	9	15	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Silent	SNP	45172269	45172269	3354	22	G	A	A	40	40	CELSR1	A	1	1
NCKAP5	344148	broad.mit.edu	36	2	133258170	133258170	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:133258170G>A	uc002ttp.1	-	c.2684C>T	c.(2683-2685)TCA>TTA	p.S895L	NCKAP5_uc002ttq.1_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	895							protein binding				0														0.432836	163.688421	164.2215	58	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133258170	133258170	10622	2	G	A	A	45	45	NCKAP5	A	2	2
NEB	4703	broad.mit.edu	36	2	152185682	152185682	+	Silent	SNP	A	G	G			TCGA-12-0616-01	TCGA-12-0616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152185682A>G	uc010fnx.1	-	c.9828T>C	c.(9826-9828)AGT>AGC	p.S3276S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	3276	Nebulin 89.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19														0.5	38.673071	38.673071	13	13	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Silent	SNP	152185682	152185682	10701	2	A	G	G	6	6	NEB	G	4	4
GAD1	2571	broad.mit.edu	36	2	171414063	171414063	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:171414063C>T	uc002ugi.1	+	c.1141C>T	c.(1141-1143)CTC>TTC	p.L381F	GAD1_uc010fqc.1_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	381					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.380952	64.087133	64.869061	24	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171414063	171414063	6430	2	C	T	T	28	28	GAD1	T	2	2
NEU4	129807	broad.mit.edu	36	2	242406849	242406849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:242406849C>A	uc002wcn.1	+	c.1293C>A	c.(1291-1293)TAC>TAA	p.Y431*	NEU4_uc002wcl.1_Non-coding_Transcript|NEU4_uc010fzr.1_Nonsense_Mutation_p.Y419*|NEU4_uc002wcm.1_Nonsense_Mutation_p.Y419*|NEU4_uc002wco.1_Nonsense_Mutation_p.Y419*|NEU4_uc002wcp.1_Nonsense_Mutation_p.Y431*	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	419		Nucleophile (By similarity).				lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)												0.208333	7.859084	9.776571	5	19	CC		KEEP	---	---	---	---	capture		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	Nonsense_Mutation	SNP	242406849	242406849	10743	2	C	A	A	20	20	NEU4	A	5	3
VIT	5212	broad.mit.edu	36	2	36889122	36889122	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:36889122G>A	uc002rpl.1	+	c.1393G>A	c.(1393-1395)GTG>ATG	p.V465M	VIT_uc002rpm.1_Missense_Mutation_p.V443M|VIT_uc010ezv.1_Missense_Mutation_p.V421M|VIT_uc010ezw.1_Missense_Mutation_p.V422M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	450	VWFA 1.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.474359	113.77038	113.814895	37	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36889122	36889122	17738	2	G	A	A	40	40	VIT	A	1	1
C3orf58	205428	broad.mit.edu	36	3	145174503	145174503	+	Silent	SNP	C	G	G			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:145174503C>G	uc003evo.1	+	c.639C>G	c.(637-639)CCC>CCG	p.P213P		NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	213						COPI vesicle coat|extracellular region				ovary(1)	1														0.285714	6.586473	7.169532	4	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	145174503	145174503	2329	3	C	G	G	23	23	C3orf58	G	3	3
FRYL	285527	broad.mit.edu	36	4	48254388	48254388	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0616-01	TCGA-12-0616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48254388T>G	uc003gyh.1	-	c.3964A>C	c.(3964-3966)AAA>CAA	p.K1322Q	FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q|FRYL_uc003gyk.1_Missense_Mutation_p.K1322Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.087912	25.514338	88.021598	32	332	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48254388	48254388	6314	4	T	G	G	64	64	FRYL	G	4	4
KIT	3815	broad.mit.edu	36	4	55286837	55286837	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55286837G>A	uc010igr.1	+	c.1404G>A	c.(1402-1404)CCG>CCA	p.P468P	KIT_uc010igs.1_Silent_p.P468P|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	468	Extracellular (Potential).|Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.P468P(1)		soft_tissue(3041)|haematopoietic_and_lymphoid_tissue(1544)|skin(98)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(10)|lung(6)|thymus(5)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	4855	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)				Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			1		431				0.404762	151.999331	152.998403	51	75	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Silent	SNP	55286837	55286837	8641	4	G	A	A	40	40	KIT	A	1	1
GPR98	84059	broad.mit.edu	36	5	90172284	90172284	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90172284C>T	uc003kju.1	+	c.16745C>T	c.(16744-16746)ACG>ATG	p.T5582M	GPR98_uc003kjt.1_Missense_Mutation_p.T3288M|GPR98_uc003kjw.1_Missense_Mutation_p.T1243M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5582	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)												0.301136	292.623498	305.050969	106	246	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	90172284	90172284	6997	5	C	T	T	19	19	GPR98	T	1	1
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(16)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.3125	702.810638	730.351384	275	605	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
PHTF2	57157	broad.mit.edu	36	7	77389962	77389962	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:77389962G>A	uc003ugs.2	+	c.1050G>A	c.(1048-1050)GTG>GTA	p.V350V	PHTF2_uc003ugo.2_Silent_p.V312V|PHTF2_uc003ugp.2_Silent_p.V312V|PHTF2_uc003ugq.2_Silent_p.V312V|PHTF2_uc010ldv.1_Silent_p.V312V|PHTF2_uc003ugr.2_Silent_p.V316V|PHTF2_uc003ugt.2_Silent_p.V316V|PHTF2_uc003ugu.2_Silent_p.V312V|PHTF2_uc003ugv.2_Silent_p.V175V|PHTF2_uc010ldw.1_Silent_p.V175V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1														0.446809	67.868632	67.984603	21	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	77389962	77389962	12287	7	G	A	A	47	47	PHTF2	A	2	2
TRRAP	8295	broad.mit.edu	36	7	98360782	98360782	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98360782G>C	uc003upp.1	+	c.2935G>C	c.(2935-2937)GAC>CAC	p.D979H	TRRAP_uc003upq.1_Missense_Mutation_p.D979H|TRRAP_uc003upr.1_Missense_Mutation_p.D671H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	979					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)									1847				0.102941	38.624459	81.309923	28	244	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	98360782	98360782	17152	7	G	C	C	41	41	TRRAP	C	3	3
SURF4	6836	broad.mit.edu	36	9	135220352	135220352	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135220352G>A	uc004cdj.1	-	c.648C>T	c.(646-648)AAC>AAT	p.N216N	SURF4_uc010nal.1_3'UTR	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	216	Helical; (Potential).					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0														0.36	103.470575	105.196752	36	64	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	Silent	SNP	135220352	135220352	15925	9	G	A	A	40	40	SURF4	A	1	1
DCAF12L1	139170	broad.mit.edu	36	X	125514010	125514010	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125514010G>A	uc004eul.1	-	c.263C>T	c.(262-264)ACG>ATG	p.T88M	DCAF12L1_uc010nqz.1_Missense_Mutation_p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	88										skin(3)	3														0.453846	179.011369	179.252202	59	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125514010	125514010	4435	23	G	A	A	40	40	DCAF12L1	A	1	1
MAGEC1	9947	broad.mit.edu	36	X	140822911	140822911	+	Silent	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:140822911G>A	uc004fbt.1	+	c.2055G>A	c.(2053-2055)GGG>GGA	p.G685G	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	685							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.364754	275.558322	279.463948	89	155	GG		KEEP	---	---	---	---	capture			Silent	SNP	140822911	140822911	9561	23	G	A	A	43	43	MAGEC1	A	2	2
HAUS7	55559	broad.mit.edu	36	X	152389130	152389130	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0616-01	TCGA-12-0616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152389130G>A	uc004fhn.1	-	c.110C>T	c.(109-111)GCG>GTG	p.A37V	HAUS7_uc004fhl.2_Non-coding_Transcript|HAUS7_uc004fhm.2_Non-coding_Transcript|HAUS7_uc004fho.1_Missense_Mutation_p.A37V|HAUS7_uc004fhp.1_Non-coding_Transcript	NM_207107	NP_996990	Q99871	HAUS7_HUMAN	UCH interacting protein 1 isoform b	37					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0														0.305556	29.210276	30.425034	11	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152389130	152389130	7253	23	G	A	A	38	38	HAUS7	A	1	1
HUWE1	10075	broad.mit.edu	36	X	53593069	53593069	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0616-01	TCGA-12-0616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53593069C>T	uc004dso.1	-	c.9611G>A	c.(9610-9612)CGT>CAT	p.R3204H	HUWE1_uc004dsn.1_Missense_Mutation_p.R2012H|HUWE1_uc004dsp.1_Missense_Mutation_p.R3204H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3204					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.363636	167.465645	169.981946	56	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53593069	53593069	7761	23	C	T	T	19	19	HUWE1	T	1	1
DNAH1	25981	broad.mit.edu	36	3	52385025	52385026	+	Frame_Shift_Ins	INS	-	A	A			TCGA-12-0616-01	TCGA-12-0616-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52385025_52385026insA	uc003dds.1	+	c.7174_7175insA	c.(7174-7176)GAAfs	p.E2392fs	DNAH1_uc003ddu.1_Non-coding_Transcript	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2392	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.35			74	135				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	52385025	52385026	4779	3	-	A	A	33	33	DNAH1	A	5	5
SMAP1	60682	broad.mit.edu	36	6	71565091	71565091	+	Frame_Shift_Del	DEL	A	-	-			TCGA-12-0616-01	TCGA-12-0616-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71565091_71565091delA	uc003pfr.1	+	c.506_506delA	c.(505-507)GAAfs	p.E169fs	SMAP1_uc003pfs.1_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.1_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.1_Frame_Shift_Del_p.E159fs|SMAP1_uc003pft.1_5'UTR	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	71565091	71565091	15264	6	A	-	-	9	9	SMAP1	-	5	5
