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
STAM	8027	broad.mit.edu	36	10	17775232	17775232	+	Silent	SNP	A	G	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:17775232A>G	uc001ipj.1	+	c.450A>G	c.(448-450)GCA>GCG	p.A150A	STAM_uc009xjw.1_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	150					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2														0.524064	325.453407	325.547267	98	89	AA		KEEP	---	---	---	---	capture			Silent	SNP	17775232	17775232	15767	10	A	G	G	7	7	STAM	G	4	4
NEBL	10529	broad.mit.edu	36	10	21501327	21501327	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:21501327T>C	uc001iqk.1	-	c.155A>G	c.(154-156)TAT>TGT	p.Y52C		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	714	Nebulin 20.			RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.452381	130.143794	130.309186	38	46	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21501327	21501327	10702	10	T	C	C	49	49	NEBL	C	4	4
SVIL	6840	broad.mit.edu	36	10	29879580	29879580	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:29879580C>T	uc001iut.1	-	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	260					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.473684	87.426115	87.45996	27	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29879580	29879580	15941	10	C	T	T	23	23	SVIL	T	1	1
KIAA1462	57608	broad.mit.edu	36	10	30355766	30355766	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:30355766G>A	uc009xle.1	-	c.3317C>T	c.(3316-3318)GCG>GTG	p.A1106V	KIAA1462_uc001iuz.2_Missense_Mutation_p.A968V|KIAA1462_uc001iux.2_Missense_Mutation_p.A1106V|KIAA1462_uc001iuy.2_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1106										ovary(4)	4														0.5	216.781913	216.781913	76	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30355766	30355766	8543	10	G	A	A	38	38	KIAA1462	A	1	1
PTEN	5728	broad.mit.edu	36	10	89707652	89707652	+	Nonsense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89707652C>T	uc001kfb.1	+	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(3)|p.R233fs*12(1)|p.R233fs*23(1)|p.R233fs*25(1)|p.R233fs*20(1)|p.R233R(1)|p.G165_*404del(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)					R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	p.R233*(JHUEM1-Tumor)|p.R233*(SW1783-Tumor)|p.R233*(SF295-Tumor)|p.T232fs(P31FUJ-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.510101	311.373457	311.390994	101	97	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Nonsense_Mutation	SNP	89707652	89707652	13192	10	C	T	T	19	19	PTEN	T	5	1
MFRP	83552	broad.mit.edu	36	11	118715437	118715437	+	Silent	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118715437G>A	uc001pwi.1	-	c.546C>T	c.(544-546)TTC>TTT	p.F182F	MFRP_uc001pwj.1_Non-coding_Transcript	NM_015645	NP_056460	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	182	C1q.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)												0.255814	54.882736	59.490594	22	64	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	Silent	SNP	118715437	118715437	9916	11	G	A	A	37	37	MFRP	A	1	1
ANO3	63982	broad.mit.edu	36	11	26525630	26525630	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26525630G>A	uc001mqt.2	+	c.1246G>A	c.(1246-1248)GTT>ATT	p.V416I		NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	416	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.259777	224.598998	243.320536	93	265	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26525630	26525630	706	11	G	A	A	40	40	ANO3	A	1	1
OR5D13	390142	broad.mit.edu	36	11	55298195	55298195	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55298195C>T	uc001nhu.1	+	c.706C>T	c.(706-708)CGC>TGC	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.289474	139.443445	146.995353	55	135	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55298195	55298195	11564	11	C	T	T	27	27	OR5D13	T	1	1
OR10V1	390201	broad.mit.edu	36	11	59237608	59237608	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59237608G>A	uc001nof.1	-	c.287C>T	c.(286-288)ACG>ATG	p.T96M		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.255319	29.476553	32.030361	12	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59237608	59237608	11326	11	G	A	A	40	40	OR10V1	A	1	1
CAPN1	823	broad.mit.edu	36	11	64710309	64710309	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64710309G>A	uc009yqd.1	+	c.683G>A	c.(682-684)CGC>CAC	p.R228H	CAPN1_uc001odf.1_Missense_Mutation_p.R228H|CAPN1_uc001odg.1_Missense_Mutation_p.R228H	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	228	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)												0.272727	13.939179	14.964451	6	16	GG		KEEP	---	---	---	---	capture		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	Missense_Mutation	SNP	64710309	64710309	2739	11	G	A	A	38	38	CAPN1	A	1	1
SRRM4	84530	broad.mit.edu	36	12	118073348	118073348	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118073348C>G	uc001txa.1	+	c.1220C>G	c.(1219-1221)TCC>TGC	p.S407C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	407	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2														0.214286	55.619807	63.008215	21	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118073348	118073348	15685	12	C	G	G	30	30	SRRM4	G	3	3
RIMBP2	23504	broad.mit.edu	36	12	129464786	129464786	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129464786C>T	uc001uil.2	-	c.2489G>A	c.(2488-2490)CGC>CAC	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	830						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)												0.244186	51.435912	56.561985	21	65	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	Missense_Mutation	SNP	129464786	129464786	13838	12	C	T	T	27	27	RIMBP2	T	1	1
RAPGEF3	10411	broad.mit.edu	36	12	46429464	46429464	+	Missense_Mutation	SNP	C	A	A			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46429464C>A	uc001rpz.2	-	c.1017G>T	c.(1015-1017)AAG>AAT	p.K339N	RAPGEF3_uc001rpy.1_5'Flank|RAPGEF3_uc009zkp.1_Missense_Mutation_p.K297N|RAPGEF3_uc009zkq.1_Missense_Mutation_p.K297N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.1_Non-coding_Transcript|RAPGEF3_uc009zks.1_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.2_Missense_Mutation_p.K339N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	297					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity				0	Lung SC(27;0.192)													0.144828	33.478748	51.083685	21	124	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0375)	Missense_Mutation	SNP	46429464	46429464	13505	12	C	A	A	28	28	RAPGEF3	A	3	3
FGF14	2259	broad.mit.edu	36	13	101173255	101173255	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:101173255G>A	uc001vpf.2	-	c.686C>T	c.(685-687)ACG>ATG	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M|FGF14_uc001vpd.1_5'Flank	NM_175929	NP_787125	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1B	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			large_intestine(1)|ovary(1)	2	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.241667	71.621652	78.921858	29	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101173255	101173255	6080	13	G	A	A	40	40	FGF14	A	1	1
DLK1	8788	broad.mit.edu	36	14	100270971	100270971	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:100270971C>T	uc001yhs.2	+	c.1137C>T	c.(1135-1137)GGC>GGT	p.G379G	DLK1_uc001yhu.2_Silent_p.G306G	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog	379	Cytoplasmic (Potential).				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)	2		Melanoma(154;0.155)												0.177632	52.487209	67.327804	27	125	CC		KEEP	---	---	---	---	capture			Silent	SNP	100270971	100270971	4744	14	C	T	T	27	27	DLK1	T	1	1
TDRD9	122402	broad.mit.edu	36	14	103578265	103578265	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:103578265A>C	uc001yom.2	+	c.3962A>C	c.(3961-3963)CAG>CCG	p.Q1321P	TDRD9_uc001yon.2_Missense_Mutation_p.Q868P|TDRD9_uc010awx.1_Missense_Mutation_p.Q845P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1321					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)												0.272727	49.732951	53.324217	21	56	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103578265	103578265	16263	14	A	C	C	7	7	TDRD9	C	4	4
C14orf39	317761	broad.mit.edu	36	14	60021376	60021376	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:60021376C>T	uc001xez.2	-	c.82G>A	c.(82-84)GAA>AAA	p.E28K	C14orf39_uc010apo.1_5'UTR	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	28										ovary(2)	2														0.303571	98.81033	102.665263	34	78	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	Missense_Mutation	SNP	60021376	60021376	1822	14	C	T	T	32	32	C14orf39	T	2	2
TGM5	9333	broad.mit.edu	36	15	41339648	41339648	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41339648C>T	uc001zrd.1	-	c.330G>A	c.(328-330)GCG>GCA	p.A110A	TGM5_uc001zre.1_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	110					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)			L-Glutamine(DB00130)									0.336283	110.718979	113.396492	38	75	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;4e-07)	Silent	SNP	41339648	41339648	16361	15	C	T	T	23	23	TGM5	T	1	1
ITGAX	3687	broad.mit.edu	36	16	31276089	31276089	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31276089C>T	uc002ebt.2	+	c.333C>T	c.(331-333)ACC>ACT	p.T111T	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Silent_p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	111	FG-GAP 2.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.217391	12.163724	13.856513	5	18	CC		KEEP	---	---	---	---	capture			Silent	SNP	31276089	31276089	8193	16	C	T	T	23	23	ITGAX	T	1	1
CCDC135	84229	broad.mit.edu	36	16	56317544	56317544	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56317544G>A	uc002emi.1	+	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	CCDC135_uc002emj.1_Missense_Mutation_p.V608M|CCDC135_uc002emk.1_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	608						cytoplasm				central_nervous_system(1)	1														0.226415	27.796847	31.422115	12	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56317544	56317544	2889	16	G	A	A	40	40	CCDC135	A	1	1
GRAP	10750	broad.mit.edu	36	17	18866056	18866056	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:18866056G>A	uc002guy.1	-	c.595C>T	c.(595-597)CGG>TGG	p.R199W		NM_006613	NP_006604	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	199	SH3 2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity				0	all_cancers(12;0.0183)													0.214286	6.420578	7.473752	3	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18866056	18866056	7029	17	G	A	A	39	39	GRAP	A	1	1
RUNDC3A	10900	broad.mit.edu	36	17	39749391	39749391	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39749391G>C	uc002igl.2	+	c.1066G>C	c.(1066-1068)GCC>CCC	p.A356P	RUNDC3A_uc002igi.1_Missense_Mutation_p.A356P|RUNDC3A_uc002igj.1_Missense_Mutation_p.A351P|RUNDC3A_uc002igk.1_Missense_Mutation_p.A352P	NM_006695	NP_006686	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 2	356					small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)				Pancreas(82;1061 1416 11136 20771 23901)								0.3	7.518043	8.251875	6	14	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.189)	Missense_Mutation	SNP	39749391	39749391	14224	17	G	C	C	38	38	RUNDC3A	C	3	3
C17orf71	55181	broad.mit.edu	36	17	54647036	54647036	+	Missense_Mutation	SNP	T	G	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54647036T>G	uc002ixi.1	+	c.2867T>G	c.(2866-2868)TTT>TGT	p.F956C		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	hypothetical protein LOC55181	956					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			ovary(3)	3	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)													0.251534	119.500308	128.638722	41	122	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54647036	54647036	1935	17	T	G	G	64	64	C17orf71	G	4	4
DLG4	1742	broad.mit.edu	36	17	7062675	7062675	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7062675C>G	uc002get.2	-	c.27G>C	c.(25-27)AGG>AGC	p.R9S	DLG4_uc010cly.1_5'Flank|DLG4_uc002geu.2_5'Flank|ACADVL_uc002gev.1_5'Flank|ACADVL_uc002gew.1_5'Flank|ACADVL_uc002gex.1_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	Error:Variant_position_missing_in_P78352_after_alignment					axon guidance|learning|protein complex assembly|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2														0.375	8.221836	8.331882	3	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7062675	7062675	4737	17	C	G	G	18	18	DLG4	G	3	3
CTAGE1	64693	broad.mit.edu	36	18	18249568	18249568	+	Missense_Mutation	SNP	T	A	A			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18249568T>A	uc002ktv.1	-	c.2205A>T	c.(2203-2205)AGA>AGT	p.R735S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	735	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)													0.255319	28.877888	31.431008	12	35	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18249568	18249568	4151	18	T	A	A	58	58	CTAGE1	A	4	4
TCEB3B	51224	broad.mit.edu	36	18	42814401	42814401	+	Silent	SNP	T	C	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:42814401T>C	uc002lcr.1	-	c.1233A>G	c.(1231-1233)CAA>CAG	p.Q411Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.1_Intron|KATNAL2_uc002lcp.2_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	411					transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.225664	145.109717	160.728709	51	175	TT		KEEP	---	---	---	---	capture			Silent	SNP	42814401	42814401	16208	18	T	C	C	64	64	TCEB3B	C	4	4
TNFRSF11A	8792	broad.mit.edu	36	18	58176530	58176530	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:58176530C>T	uc002lin.1	+	c.497C>T	c.(496-498)ACG>ATG	p.T166M	TNFRSF11A_uc010dpv.1_Missense_Mutation_p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	166	TNFR-Cys 4.|Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity				0		Colorectal(73;0.188)												0.255924	134.542975	145.951894	54	157	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58176530	58176530	16825	18	C	T	T	19	19	TNFRSF11A	T	1	1
DAZAP1	26528	broad.mit.edu	36	19	1385835	1385835	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1385835G>C	uc002lsn.1	+	c.1148G>C	c.(1147-1149)GGC>GCC	p.G383A	DAZAP1_uc002lsl.1_Missense_Mutation_p.G382A|DAZAP1_uc002lsm.1_3'UTR|DAZAP1_uc002lso.1_Missense_Mutation_p.G382A	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	383	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)												0.375	9.209014	9.627915	9	15	GG		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	1385835	1385835	4415	19	G	C	C	42	42	DAZAP1	C	3	3
TJP3	27134	broad.mit.edu	36	19	3681053	3681053	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3681053C>T	uc002lym.1	+	c.243C>T	c.(241-243)AAC>AAT	p.N81N	TJP3_uc002lyk.1_Silent_p.N62N|TJP3_uc002lyl.1_Silent_p.N71N|TJP3_uc002lyn.1_Silent_p.N62N	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	62	PDZ 1.					tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.247619	127.000292	139.173281	52	158	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3681053	3681053	16460	19	C	T	T	19	19	TJP3	T	1	1
MATK	4145	broad.mit.edu	36	19	3734147	3734147	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3734147G>A	uc002lyv.1	-	c.656C>T	c.(655-657)TCG>TTG	p.S219L	MATK_uc002lyt.1_Missense_Mutation_p.S218L|MATK_uc002lyu.1_Missense_Mutation_p.S177L|MATK_uc010dtq.1_Missense_Mutation_p.S218L	NM_002378	NP_647611	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	218					cell proliferation|mesoderm development|positive regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			ovary(1)|lung(1)|large_intestine(1)	3		Hepatocellular(1079;0.137)								245				0.18018	41.357215	52.01494	20	91	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3734147	3734147	9716	19	G	A	A	37	37	MATK	A	1	1
ZNF526	116115	broad.mit.edu	36	19	47422184	47422184	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47422184C>G	uc002osz.1	+	c.1789C>G	c.(1789-1791)CGA>GGA	p.R597G	ZNF526_uc010eie.1_Missense_Mutation_p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)												0.269231	44.878843	48.683122	21	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47422184	47422184	18561	19	C	G	G	23	23	ZNF526	G	3	3
TMEM146	257062	broad.mit.edu	36	19	5708927	5708927	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5708927A>G	uc002mda.1	+	c.1352A>G	c.(1351-1353)AAC>AGC	p.N451S	TMEM146_uc010duj.1_Missense_Mutation_p.N109S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146	451	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.232558	26.631962	29.445577	10	33	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5708927	5708927	16592	19	A	G	G	2	2	TMEM146	G	4	4
ZNF606	80095	broad.mit.edu	36	19	63182792	63182792	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63182792G>C	uc002qqw.1	-	c.1068C>G	c.(1066-1068)TTC>TTG	p.F356L		NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)												0.226852	139.36573	154.155569	49	167	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	Missense_Mutation	SNP	63182792	63182792	18627	19	G	C	C	33	33	ZNF606	C	3	3
KCNA2	3737	broad.mit.edu	36	1	110948478	110948478	+	Missense_Mutation	SNP	C	A	A			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110948478C>A	uc001dzu.1	-	c.450G>T	c.(448-450)TGG>TGT	p.W150C	KCNA2_uc009wfv.1_Missense_Mutation_p.W150C|KCNA2_uc009wfw.1_Missense_Mutation_p.W150C|KCNA2_uc009wfx.1_Missense_Mutation_p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	150						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)				Pancreas(18;568 735 10587 23710 36357)								0.247059	52.164765	57.093246	21	64	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Missense_Mutation	SNP	110948478	110948478	8308	1	C	A	A	26	26	KCNA2	A	3	3
KIAA2013	90231	broad.mit.edu	36	1	11905580	11905580	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11905580G>C	uc001atl.1	-	c.1587C>G	c.(1585-1587)GAC>GAG	p.D529E	KIAA2013_uc001atk.1_Missense_Mutation_p.D529E	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231	529	Extracellular (Potential).					integral to membrane				ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)												0.272727	7.621406	8.132775	3	8	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	11905580	11905580	8578	1	G	C	C	40	40	KIAA2013	C	3	3
RYR2	6262	broad.mit.edu	36	1	235671345	235671345	+	Missense_Mutation	SNP	T	A	A			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235671345T>A	uc001hyl.1	+	c.1109T>A	c.(1108-1110)CTA>CAA	p.L370Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	370	Cytoplasmic (By similarity).|MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.257862	106.803297	115.249847	41	118	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235671345	235671345	14249	1	T	A	A	53	53	RYR2	A	4	4
NKAIN1	79570	broad.mit.edu	36	1	31430763	31430763	+	Splice_Site_SNP	SNP	T	C	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31430763T>C	uc001bsn.1	-	c.61_splice	c.e2-1	p.Y21_splice		NM_024522	NP_078798			Na+/K+ transporting ATPase interacting 1							integral to membrane|plasma membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)												0.222222	8.989792	10.268063	4	14	TT		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)	Splice_Site_SNP	SNP	31430763	31430763	10836	1	T	C	C	55	55	NKAIN1	C	5	4
SSTR4	6754	broad.mit.edu	36	20	22964581	22964581	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:22964581C>T	uc002wsr.2	+	c.461C>T	c.(460-462)GCG>GTG	p.A154V		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	154	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					Esophageal Squamous(15;850 1104 16640)								0.25	52.699202	57.91582	23	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22964581	22964581	15716	20	C	T	T	27	27	SSTR4	T	1	1
BPIL1	80341	broad.mit.edu	36	20	31069733	31069733	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31069733C>G	uc002wyj.1	+	c.585C>G	c.(583-585)AAC>AAG	p.N195K		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	195						extracellular region	lipid binding			large_intestine(1)|ovary(1)	2														0.2	65.76532	75.384951	23	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31069733	31069733	1519	20	C	G	G	18	18	BPIL1	G	3	3
PPP1R16B	26051	broad.mit.edu	36	20	36968135	36968135	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36968135C>T	uc002xje.1	+	c.806C>T	c.(805-807)GCT>GTT	p.A269V	PPP1R16B_uc010ggc.1_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	269	ANK 4.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.2625	52.898111	57.016429	21	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36968135	36968135	12801	20	C	T	T	28	28	PPP1R16B	T	2	2
MX2	4600	broad.mit.edu	36	21	41695824	41695824	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41695824A>G	uc002yzf.1	+	c.1472A>G	c.(1471-1473)GAG>GGG	p.E491G	MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)												0.180791	74.747205	91.791291	32	145	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41695824	41695824	10392	21	A	G	G	11	11	MX2	G	4	4
IL17RA	23765	broad.mit.edu	36	22	15969845	15969845	+	Missense_Mutation	SNP	T	G	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15969845T>G	uc002zly.1	+	c.1736T>G	c.(1735-1737)GTC>GGC	p.V579G	IL17RA_uc010gqt.1_Missense_Mutation_p.V527G	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	579	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.272727	7.420034	7.932372	3	8	TT		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Missense_Mutation	SNP	15969845	15969845	7940	22	T	G	G	58	58	IL17RA	G	4	4
TPO	7173	broad.mit.edu	36	2	1467435	1467435	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1467435G>A	uc002qwr.1	+	c.1399G>A	c.(1399-1401)GTG>ATG	p.V467M	TPO_uc010ewj.1_Non-coding_Transcript|TPO_uc002qwt.1_Missense_Mutation_p.V294M|TPO_uc002qwu.1_Missense_Mutation_p.V467M|TPO_uc002qwv.1_Missense_Mutation_p.V467M|TPO_uc002qww.1_Missense_Mutation_p.V467M|TPO_uc002qwx.1_Missense_Mutation_p.V467M|TPO_uc002qwy.1_De_novo_Start_InFrame|TPO_uc002qwz.1_Non-coding_Transcript	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	467	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)			Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.240506	45.888282	50.742262	19	60	GG		KEEP	---	---	---	---	capture		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Missense_Mutation	SNP	1467435	1467435	16954	2	G	A	A	40	40	TPO	A	1	1
STAM2	10254	broad.mit.edu	36	2	152712068	152712068	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152712068C>T	uc002tyc.2	-	c.301G>A	c.(301-303)GCA>ACA	p.A101T	STAM2_uc010foa.1_Missense_Mutation_p.A101T|STAM2_uc002tyd.2_Missense_Mutation_p.A101T	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	101	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1														0.234848	75.647272	84.146836	31	101	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.22)	Missense_Mutation	SNP	152712068	152712068	15768	2	C	T	T	26	26	STAM2	T	2	2
EMILIN1	11117	broad.mit.edu	36	2	27156538	27156538	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27156538C>T	uc002rii.2	+	c.186C>T	c.(184-186)TAC>TAT	p.Y62Y	EMILIN1_uc010eyq.1_Silent_p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	62	EMI.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.251656	92.276915	100.738089	38	113	CC		KEEP	---	---	---	---	capture			Silent	SNP	27156538	27156538	5285	2	C	T	T	19	19	EMILIN1	T	1	1
PSME4	23198	broad.mit.edu	36	2	53947510	53947510	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:53947510G>A	uc002rxp.2	-	c.4933C>T	c.(4933-4935)CGC>TGC	p.R1645C	PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5														0.28125	49.522101	52.274776	18	46	GG		KEEP	---	---	---	---	capture	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		Missense_Mutation	SNP	53947510	53947510	13162	2	G	A	A	40	40	PSME4	A	1	1
CD96	10225	broad.mit.edu	36	3	112746938	112746938	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:112746938C>T	uc003dxw.1	+	c.417C>T	c.(415-417)CAC>CAT	p.H139H	CD96_uc003dxx.1_Silent_p.H139H|CD96_uc010hpy.1_Silent_p.H139H|CD96_uc003dxv.2_Silent_p.H139H	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	139	Extracellular (Potential).				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)	1														0.263889	48.489966	52.121837	19	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	112746938	112746938	3176	3	C	T	T	19	19	CD96	T	1	1
XYLB	9942	broad.mit.edu	36	3	38386559	38386559	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38386559A>G	uc003cic.1	+	c.655A>G	c.(655-657)ATG>GTG	p.M219V	XYLB_uc003cid.1_Missense_Mutation_p.M141V	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase homolog	219					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1														0.173709	181.890002	224.695966	74	352	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	Missense_Mutation	SNP	38386559	38386559	18045	3	A	G	G	4	4	XYLB	G	4	4
ADH7	131	broad.mit.edu	36	4	100568076	100568076	+	Silent	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100568076G>A	uc003huv.1	-	c.477C>T	c.(475-477)ACC>ACT	p.T159T		NM_000673	NP_000664	P40394	ADH7_HUMAN	alcohol dehydrogenase 7	159					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)	2					NADH(DB00157)									0.215768	129.378411	147.336399	52	189	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	Silent	SNP	100568076	100568076	314	4	G	A	A	39	39	ADH7	A	1	1
GABRA4	2557	broad.mit.edu	36	4	46661883	46661883	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46661883G>A	uc003gxg.1	-	c.995C>T	c.(994-996)TCG>TTG	p.S332L		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	332	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.255319	91.134098	98.791672	36	105	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46661883	46661883	6414	4	G	A	A	37	37	GABRA4	A	1	1
PDHA2	5161	broad.mit.edu	36	4	96980909	96980909	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:96980909C>T	uc003htr.2	+	c.585C>T	c.(583-585)GGC>GGT	p.G195G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	195					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)			NADH(DB00157)									0.31405	101.132733	104.84185	38	83	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	Silent	SNP	96980909	96980909	12086	4	C	T	T	27	27	PDHA2	T	1	1
ERGIC1	57222	broad.mit.edu	36	5	172269296	172269296	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:172269296A>G	uc003mbw.2	+	c.176A>G	c.(175-177)GAT>GGT	p.D59G	ERGIC1_uc003mby.2_5'UTR|ERGIC1_uc003mbz.2_Missense_Mutation_p.D14G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	59	Lumenal (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)												0.195767	87.553339	103.882995	37	152	AA		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	172269296	172269296	5416	5	A	G	G	12	12	ERGIC1	G	4	4
WDR70	55100	broad.mit.edu	36	5	37515822	37515822	+	Nonsense_Mutation	SNP	T	G	G			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37515822T>G	uc003jkv.1	+	c.816T>G	c.(814-816)TAT>TAG	p.Y272*	WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	272										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)													0.220238	108.912855	120.997715	37	131	TT		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Nonsense_Mutation	SNP	37515822	37515822	17894	5	T	G	G	49	49	WDR70	G	5	4
RFX6	222546	broad.mit.edu	36	6	117321854	117321854	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117321854A>C	uc003pxm.1	+	c.578A>C	c.(577-579)TAT>TCT	p.Y193S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	193	RFX-type winged-helix.				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.224852	112.371054	124.117216	38	131	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117321854	117321854	13739	6	A	C	C	16	16	RFX6	C	4	4
SYNJ2	8871	broad.mit.edu	36	6	158403184	158403184	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158403184G>A	uc003qqx.1	+	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H	SYNJ2_uc003qqw.1_Missense_Mutation_p.R376H|SYNJ2_uc003qqy.1_Missense_Mutation_p.R136H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R325H|SYNJ2_uc003qqz.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	376	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1														0.203209	87.670497	102.949683	38	149	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	Missense_Mutation	SNP	158403184	158403184	15974	6	G	A	A	39	39	SYNJ2	A	1	1
PARP12	64761	broad.mit.edu	36	7	139372575	139372575	+	Silent	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139372575C>T	uc003vvl.1	-	c.1671G>A	c.(1669-1671)GTG>GTA	p.V557V	PARP12_uc003vvk.1_Silent_p.V343V|PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	zinc finger CCCH-type domain containing 1	557	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)													0.15528	39.268997	57.552255	25	136	CC		KEEP	---	---	---	---	capture			Silent	SNP	139372575	139372575	11874	7	C	T	T	21	21	PARP12	T	2	2
CNTNAP2	26047	broad.mit.edu	36	7	146449097	146449097	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146449097G>A	uc003weu.1	+	c.848G>A	c.(847-849)CGC>CAC	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	283	Laminin G-like 1.|Extracellular (Potential).		R -> C.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.182482	48.902846	61.867434	25	112	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	146449097	146449097	3785	7	G	A	A	38	38	CNTNAP2	A	1	1
FBXL18	80028	broad.mit.edu	36	7	5507290	5507290	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2470-01	TCGA-02-2470-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5507290A>C	uc003son.2	-	c.1136T>G	c.(1135-1137)GTG>GGG	p.V379G	FBXL18_uc003soo.1_Missense_Mutation_p.V279G	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	379	LRR 6.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)												0.366667	10.393457	11.02509	11	19	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	Missense_Mutation	SNP	5507290	5507290	5951	7	A	C	C	6	6	FBXL18	C	4	4
NEFM	4741	broad.mit.edu	36	8	24828017	24828017	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2470-01	TCGA-02-2470-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24828017C>T	uc003xed.2	+	c.806C>T	c.(805-807)GCG>GTG	p.A269V	NEFM_uc010lud.1_Missense_Mutation_p.A269V|NEFM_uc010lue.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	269	Rod.|Coil 2A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)												0.271429	48.300793	51.594674	19	51	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	Missense_Mutation	SNP	24828017	24828017	10715	8	C	T	T	27	27	NEFM	T	1	1
MELK	9833	broad.mit.edu	36	9	36641764	36641764	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:36641764G>T	uc003zzn.1	+	c.943G>T	c.(943-945)GCT>TCT	p.A315S	MELK_uc010mll.1_Missense_Mutation_p.A283S|MELK_uc010mlm.1_Missense_Mutation_p.A244S|MELK_uc010mln.1_5'UTR	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	315					protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(1)|skin(1)	5		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)				Ovarian(82;980 1317 7225 14391 18624)				394				0.489362	744.170398	744.216042	253	264	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(86;0.228)		Missense_Mutation	SNP	36641764	36641764	9859	9	G	T	T	42	42	MELK	T	3	3
FAM75A2	642265	broad.mit.edu	36	9	39878189	39878189	+	Silent	SNP	G	T	T			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:39878189G>T	uc004abp.1	+	c.1176G>T	c.(1174-1176)CTG>CTT	p.L392L		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	hypothetical protein LOC642265	392						integral to membrane					0														0.535047	718.337906	718.790725	229	199	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	Silent	SNP	39878189	39878189	5844	9	G	T	T	46	46	FAM75A2	T	3	3
CXorf48	54967	broad.mit.edu	36	X	134122058	134122058	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2470-01	TCGA-02-2470-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134122058T>C	uc004eyk.1	-	c.368A>G	c.(367-369)GAA>GGA	p.E123G	CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	123											0	Acute lymphoblastic leukemia(192;0.000127)													0.75	79.38993	80.981223	21	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	134122058	134122058	4272	23	T	C	C	62	62	CXorf48	C	4	4
MAGEB18	286514	broad.mit.edu	36	X	26067079	26067079	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2470-01	TCGA-02-2470-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:26067079G>A	uc004dbq.1	+	c.56G>A	c.(55-57)CGT>CAT	p.R19H	MAGEB18_uc010ngb.1_Missense_Mutation_p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	19							protein binding			central_nervous_system(1)	1														0.513514	60.726211	60.732108	19	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26067079	26067079	9556	23	G	A	A	40	40	MAGEB18	A	1	1
NFIX	4784	broad.mit.edu	36	19	13053662	13053662	+	Frame_Shift_Del	DEL	C	-	-			TCGA-02-2470-01	TCGA-02-2470-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13053662_13053662delC	uc002mwd.1	+	c.1247_1247delC	c.(1246-1248)ACCfs	p.T416fs	NFIX_uc002mwe.1_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.1_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.1_Frame_Shift_Del_p.T415fs|NFIX_uc002mwh.1_Frame_Shift_Del_p.T369fs	NM_002501	NP_002492	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription	416					DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)	1			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)									OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.44			15	19				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	13053662	13053662	10774	19	C	-	-	18	18	NFIX	-	5	5
SH2D3C	10044	broad.mit.edu	36	9	129541929	129541929	+	Frame_Shift_Del	DEL	C	-	-			TCGA-02-2470-01	TCGA-02-2470-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129541929_129541929delC	uc004bsc.1	-	c.2260_2260delG	c.(2260-2262)GAGfs	p.E754fs	SH2D3C_uc010mxo.1_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.1_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.2_Frame_Shift_Del_p.E393fs|SH2D3C_uc004bsb.1_Frame_Shift_Del_p.E686fs|SH2D3C_uc004bsa.1_Frame_Shift_Del_p.E597fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	754	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1														0.38			3	5				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	129541929	129541929	14725	9	C	-	-	30	30	SH2D3C	-	5	5
