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	TCGAscape_Amplification_Peaks	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_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
IPMK	253430	broad.mit.edu	37	10	59986896	59986896	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:59986896T>G	uc001jkb.2	-	c.281A>C	c.(280-282)TAT>TCT	p.Y94S		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	94						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1														0.10101	10.980649	26.702686	10	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59986896	59986896	8093	10	T	G	G	G	637	49	IPMK	4	4
SAMD8	142891	broad.mit.edu	37	10	76910777	76910777	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76910777G>C	uc001jwx.1	+	c.491G>C	c.(490-492)GGA>GCA	p.G164A	SAMD8_uc001jwy.1_Missense_Mutation_p.G164A	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	164	Helical; (Potential).				sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)													0.050505	-11.02109	10.271378	5	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76910777	76910777	14305	10	G	C	C	C	533	41	SAMD8	3	3
MMP7	4316	broad.mit.edu	37	11	102401376	102401376	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102401376G>T	uc001phb.2	-	c.56C>A	c.(55-57)CCG>CAG	p.P19Q	MMP7_uc009yxd.2_Missense_Mutation_p.P19Q|MMP7_uc010rus.1_Missense_Mutation_p.P19Q	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	19					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)										0.056604	-9.737502	12.158558	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102401376	102401376	10058	11	G	T	T	T	507	39	MMP7	1	1
ATG16L2	89849	broad.mit.edu	37	11	72535874	72535874	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72535874C>T	uc001otd.2	+	c.983C>T	c.(982-984)GCT>GTT	p.A328V	ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.2_Missense_Mutation_p.A222V|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.A83V|ATG16L2_uc001otg.2_Missense_Mutation_p.A62V|ATG16L2_uc009ytk.2_Missense_Mutation_p.A83V	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	328					autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)											0.20339	27.669813	32.487515	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72535874	72535874	1111	11	C	T	T	T	364	28	ATG16L2	2	2
DTX3	196403	broad.mit.edu	37	12	58001194	58001194	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58001194C>A	uc001sow.1	+	c.548C>A	c.(547-549)TCA>TAA	p.S183*	DTX3_uc001sov.1_Nonsense_Mutation_p.S176*|DTX3_uc001sox.1_Nonsense_Mutation_p.S176*|DTX3_uc001soy.1_Nonsense_Mutation_p.S176*|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	183	RING-type.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)	1	Melanoma(17;0.122)													0.050847	-6.125661	6.483962	3	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58001194	58001194	4980	12	C	A	A	A	377	29	DTX3	5	2
BRCA2	675	broad.mit.edu	37	13	32972777	32972777	+	Nonsense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32972777C>G	uc001uub.1	+	c.10127C>G	c.(10126-10128)TCA>TGA	p.S3376*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3376					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.052083	-7.409245	12.957123	5	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32972777	32972777	1530	13	C	G	G	G	377	29	BRCA2	5	3
LEO1	123169	broad.mit.edu	37	15	52258273	52258273	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52258273C>T	uc002abo.2	-	c.487G>A	c.(487-489)GAT>AAT	p.D163N	LEO1_uc010bfd.2_Missense_Mutation_p.D163N	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	163	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)								0.031461	-82.557814	24.405331	14	431	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52258273	52258273	9050	15	C	T	T	T	377	29	LEO1	2	2
KIF22	3835	broad.mit.edu	37	16	29816619	29816619	+	Silent	SNP	T	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29816619T>C	uc002dts.3	+	c.1986T>C	c.(1984-1986)TGT>TGC	p.C662C	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.C594C|KIF22_uc010vdw.1_Silent_p.C594C|KIF22_uc010bzf.2_Silent_p.C608C|KIF22_uc002dtt.1_3'UTR|KIF22_uc002frc.1_Non-coding_Transcript|MAZ_uc002dtv.1_5'Flank|MAZ_uc010vdx.1_5'Flank|MAZ_uc002dtw.2_5'Flank|MAZ_uc002dtx.2_5'Flank|MAZ_uc002dty.2_5'Flank|MAZ_uc010bzg.2_5'Flank|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	662					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0														0.190939	112.354943	139.963288	59	250	KEEP	---	---	---	---	capture		Silent	SNP	29816619	29816619	8601	16	T	C	C	C	764	59	KIF22	4	4
NLRC5	84166	broad.mit.edu	37	16	57054780	57054780	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57054780G>C	uc002ekk.1	+	c.156G>C	c.(154-156)CAG>CAC	p.Q52H	NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	52					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|breast(1)|skin(1)	6		all_neural(199;0.225)												0.038835	-14.790049	8.869108	4	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57054780	57054780	10873	16	G	C	C	C	425	33	NLRC5	3	3
GLG1	2734	broad.mit.edu	37	16	74496473	74496473	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74496473G>T	uc002fcx.2	-	c.2847C>A	c.(2845-2847)TTC>TTA	p.F949L	GLG1_uc002fcy.3_Missense_Mutation_p.F949L|GLG1_uc002fcw.3_Missense_Mutation_p.F938L|GLG1_uc002fcz.3_Missense_Mutation_p.F366L	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 1	949	Cys-rich GLG1 14.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2										1034				0.241667	68.614829	75.920218	29	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74496473	74496473	6704	16	G	T	T	T	425	33	GLG1	2	2
MYO18A	399687	broad.mit.edu	37	17	27413574	27413574	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27413574C>G	uc002hdt.1	-	c.5734G>C	c.(5734-5736)GAG>CAG	p.E1912Q	MYO18A_uc010wbc.1_Missense_Mutation_p.E1445Q|MYO18A_uc002hds.2_Missense_Mutation_p.E1454Q|MYO18A_uc010csa.1_Missense_Mutation_p.E1875Q|MYO18A_uc002hdu.1_Missense_Mutation_p.E1912Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1912	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			Esophageal Squamous(182;472 2015 7001 15270 22562)								0.057692	-3.510942	7.152778	3	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27413574	27413574	10460	17	C	G	G	G	390	30	MYO18A	3	3
AATF	26574	broad.mit.edu	37	17	35344013	35344013	+	Silent	SNP	A	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35344013A>G	uc002hni.2	+	c.930A>G	c.(928-930)ACA>ACG	p.T310T	AATF_uc002hnj.2_Non-coding_Transcript	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	310	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				NSCLC(49;901 1159 19183 41572 46244)								0.220779	94.282371	105.323958	34	120	KEEP	---	---	---	---	capture		Silent	SNP	35344013	35344013	26	17	A	G	G	G	54	5	AATF	4	4
ITGA2B	3674	broad.mit.edu	37	17	42453323	42453323	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42453323C>T	uc002igt.1	-	c.2479G>A	c.(2479-2481)GGT>AGT	p.G827S	ITGA2B_uc002igu.1_Missense_Mutation_p.G308S	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	827	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)							OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.056338	-5.662159	9.028145	4	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42453323	42453323	8180	17	C	T	T	T	273	21	ITGA2B	2	2
PLD2	5338	broad.mit.edu	37	17	4719995	4719995	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4719995C>G	uc002fzc.2	+	c.1536C>G	c.(1534-1536)AGC>AGG	p.S512R	PLD2_uc010vsj.1_Missense_Mutation_p.S369R|PLD2_uc002fzd.2_Missense_Mutation_p.S512R	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	512	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)									0.241935	120.922915	132.192953	45	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4719995	4719995	12472	17	C	G	G	G	324	25	PLD2	3	3
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13826656C>T	uc010xaf.1	+	c.892C>T	c.(892-894)CGC>TGC	p.R298C		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	298	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.236052	139.920192	154.752688	55	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13826656	13826656	9756	18	C	T	T	T	299	23	MC5R	1	1
NETO1	81832	broad.mit.edu	37	18	70416305	70416305	+	Silent	SNP	A	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70416305A>G	uc002lkw.2	-	c.1560T>C	c.(1558-1560)TCT>TCC	p.S520S	NETO1_uc002lkx.1_Silent_p.S519S|NETO1_uc002lky.1_Silent_p.S520S	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	520	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.168317	81.518115	102.571101	34	168	KEEP	---	---	---	---	capture		Silent	SNP	70416305	70416305	10738	18	A	G	G	G	132	11	NETO1	4	4
ANKRD12	23253	broad.mit.edu	37	18	9275652	9275652	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9275652C>T	uc002knv.2	+	c.5894C>T	c.(5893-5895)CCA>CTA	p.P1965L	ANKRD12_uc002knw.2_Missense_Mutation_p.P1942L|ANKRD12_uc002knx.2_Missense_Mutation_p.P1942L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1965						nucleus				ovary(2)|central_nervous_system(1)	3														0.214286	91.029731	105.817361	42	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9275652	9275652	643	18	C	T	T	T	273	21	ANKRD12	2	2
C19orf29	58509	broad.mit.edu	37	19	3612168	3612168	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3612168T>A	uc002lyh.2	-	c.2030A>T	c.(2029-2031)AAG>ATG	p.K677M	C19orf29_uc010xho.1_Missense_Mutation_p.K136M|C19orf29_uc010dtn.2_Missense_Mutation_p.K525M|C19orf29_uc002lyi.3_Missense_Mutation_p.K677M|C19orf29_uc010dto.2_Non-coding_Transcript	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	677					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)										0.029304	-53.059267	13.35866	8	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3612168	3612168	1981	19	T	A	A	A	728	56	C19orf29	3	3
RTN2	6253	broad.mit.edu	37	19	45998365	45998365	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45998365C>G	uc002pcb.2	-	c.67G>C	c.(67-69)GAT>CAT	p.D23H	RTN2_uc002pcc.2_Missense_Mutation_p.D23H|RTN2_uc002pcd.2_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	23						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)										0.033898	-28.013807	13.887402	6	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45998365	45998365	14206	19	C	G	G	G	377	29	RTN2	3	3
GRWD1	83743	broad.mit.edu	37	19	48949420	48949420	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48949420C>T	uc002pjd.2	+	c.158C>T	c.(157-159)GCC>GTC	p.A53V		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	53						nucleolus				ovary(1)	1		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)								OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.235294	8.287609	9.381157	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48949420	48949420	7091	19	C	T	T	T	338	26	GRWD1	2	2
NLRP4	147945	broad.mit.edu	37	19	56382256	56382256	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56382256C>G	uc002qmd.3	+	c.2418C>G	c.(2416-2418)AAC>AAG	p.N806K	NLRP4_uc002qmf.2_Missense_Mutation_p.N731K|NLRP4_uc010etf.2_Missense_Mutation_p.N581K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	806	LRR 5.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.031496	-22.516677	8.001212	4	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56382256	56382256	10882	19	C	G	G	G	220	17	NLRP4	3	3
PEG3	5178	broad.mit.edu	37	19	57325423	57325423	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57325423C>T	uc002qnu.2	-	c.4387G>A	c.(4387-4389)GAA>AAA	p.E1463K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1434K|PEG3_uc002qnv.2_Missense_Mutation_p.E1463K|PEG3_uc002qnw.2_Missense_Mutation_p.E1339K|PEG3_uc002qnx.2_Missense_Mutation_p.E1337K|PEG3_uc010etr.2_Missense_Mutation_p.E1463K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1463	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.026786	-43.360451	12.06833	6	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57325423	57325423	12141	19	C	T	T	T	416	32	PEG3	2	2
ZNF558	148156	broad.mit.edu	37	19	8922322	8922322	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8922322G>A	uc002mkn.1	-	c.844C>T	c.(844-846)CAC>TAC	p.H282Y	ZNF558_uc010xkh.1_Missense_Mutation_p.H211Y|ZNF558_uc010dwg.1_Missense_Mutation_p.H282Y	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	282	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.227273	147.027373	166.553089	65	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8922322	8922322	18584	19	G	A	A	A	598	46	ZNF558	2	2
COL11A1	1301	broad.mit.edu	37	1	103491388	103491388	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103491388G>C	uc001dum.2	-	c.901C>G	c.(901-903)CAA>GAA	p.Q301E	COL11A1_uc001duk.2_Intron|COL11A1_uc001dul.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.033333	-48.816117	22.440068	10	290	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103491388	103491388	3805	1	G	C	C	C	585	45	COL11A1	3	3
JMJD4	65094	broad.mit.edu	37	1	227921232	227921232	+	Silent	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227921232G>C	uc001hrb.2	-	c.843C>G	c.(841-843)CTC>CTG	p.L281L	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_Non-coding_Transcript|LOC100130093_uc001hqy.3_Non-coding_Transcript|JMJD4_uc001hrc.2_Silent_p.L281L	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	281	JmjC.										0		Prostate(94;0.0885)												0.092308	4.50027	15.375491	6	59	KEEP	---	---	---	---	capture		Silent	SNP	227921232	227921232	8255	1	G	C	C	C	418	33	JMJD4	3	3
PRDM16	63976	broad.mit.edu	37	1	3319367	3319367	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3319367T>C	uc001akf.2	+	c.689T>C	c.(688-690)TTC>TCC	p.F230S	PRDM16_uc001akc.2_Missense_Mutation_p.F230S|PRDM16_uc001akd.2_Missense_Mutation_p.F230S|PRDM16_uc001ake.2_Missense_Mutation_p.F230S|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	230	C2H2-type 1; atypical.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)						1161				0.223404	56.538569	63.140692	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3319367	3319367	12899	1	T	C	C	C	806	62	PRDM16	4	4
PAX1	5075	broad.mit.edu	37	20	21689285	21689285	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21689285G>T	uc002wsj.2	+	c.1006G>T	c.(1006-1008)GCA>TCA	p.A336S	PAX1_uc010zsl.1_Missense_Mutation_p.A336S|PAX1_uc010zsm.1_Missense_Mutation_p.A312S	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	336					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			kidney(1)	1														0.413793	173.258088	174.202199	60	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21689285	21689285	11898	20	G	T	T	T	494	38	PAX1	1	1
MYH7B	57644	broad.mit.edu	37	20	33575404	33575404	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33575404C>A	uc002xbi.1	+	c.1318C>A	c.(1318-1320)CTC>ATC	p.L440I	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	398	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)											0.384127	345.275501	348.991217	121	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33575404	33575404	10435	20	C	A	A	A	312	24	MYH7B	2	2
TCFL5	10732	broad.mit.edu	37	20	61488962	61488962	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61488962C>G	uc002ydp.2	-	c.1023G>C	c.(1021-1023)AAG>AAC	p.K341N	TCFL5_uc002ydo.2_Missense_Mutation_p.K114N|TCFL5_uc002ydq.2_Missense_Mutation_p.K340N	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	341					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|regulation of transcription, DNA-dependent|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			large_intestine(1)	1	Breast(26;5.68e-08)													0.026882	-34.400943	11.594745	5	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61488962	61488962	16225	20	C	G	G	G	415	32	TCFL5	3	3
ITSN1	6453	broad.mit.edu	37	21	35260596	35260596	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:35260596G>A	uc002yta.1	+	c.5158G>A	c.(5158-5160)GAG>AAG	p.E1720K	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.E1715K|ITSN1_uc002ytj.2_Missense_Mutation_p.E1659K|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1720					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)	3														0.27907	31.280966	33.16902	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35260596	35260596	8230	21	G	A	A	A	585	45	ITSN1	2	2
KRTAP10-10	353333	broad.mit.edu	37	21	46057394	46057394	+	Silent	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46057394C>T	uc002zfq.2	+	c.60C>T	c.(58-60)GTC>GTT	p.V20V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	20						keratin filament					0														0.059701	-14.875077	12.343499	8	126	KEEP	---	---	---	---	capture		Silent	SNP	46057394	46057394	8821	21	C	T	T	T	392	31	KRTAP10-10	1	1
C22orf29	79680	broad.mit.edu	37	22	19839364	19839364	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19839364C>A	uc002zqg.2	-	c.421G>T	c.(421-423)GAG>TAG	p.E141*	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Nonsense_Mutation_p.E141*|C22orf29_uc002zqi.2_Nonsense_Mutation_p.E141*|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	141											0	Colorectal(54;0.0993)													0.037736	-32.771654	16.235382	8	204	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19839364	19839364	2222	22	C	A	A	A	403	31	C22orf29	5	1
ZDHHC8	29801	broad.mit.edu	37	22	20128410	20128410	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20128410C>T	uc002zrr.1	+	c.769C>T	c.(769-771)CCC>TCC	p.P257S	ZDHHC8_uc002zrq.2_Missense_Mutation_p.P257S|ZDHHC8_uc010gsa.2_Missense_Mutation_p.P63S	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	257	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1	Colorectal(54;0.0993)													0.171429	21.990753	29.108517	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20128410	20128410	18209	22	C	T	T	T	234	18	ZDHHC8	2	2
TMPRSS6	164656	broad.mit.edu	37	22	37462203	37462203	+	Silent	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37462203G>A	uc003aqt.1	-	c.2392C>T	c.(2392-2394)CTG>TTG	p.L798L	TMPRSS6_uc003aqs.1_Silent_p.L785L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	785	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)	5														0.257143	24.658291	26.529599	9	26	KEEP	---	---	---	---	capture		Silent	SNP	37462203	37462203	16792	22	G	A	A	A	451	35	TMPRSS6	2	2
APOBEC3G	60489	broad.mit.edu	37	22	39477517	39477517	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39477517G>C	uc003awx.2	+	c.508G>C	c.(508-510)GAG>CAG	p.E170Q	APOBEC3G_uc003awy.2_Missense_Mutation_p.E103Q	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	170					base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	p.E170K(1)		central_nervous_system(1)	1	Melanoma(58;0.04)													0.024138	-57.029696	15.922098	7	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39477517	39477517	805	22	G	C	C	C	429	33	APOBEC3G	3	3
UGT1A3	54659	broad.mit.edu	37	2	234638177	234638177	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234638177G>T	uc002vuy.2	+	c.405G>T	c.(403-405)GAG>GAT	p.E135D	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.E135D	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	135					flavonoid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.236534	248.770018	275.855824	101	326	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234638177	234638177	17504	2	G	T	T	T	451	35	UGT1A3	2	2
PREPL	9581	broad.mit.edu	37	2	44571027	44571027	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44571027A>G	uc002ruf.2	-	c.473T>C	c.(472-474)ATT>ACT	p.I158T	PREPL_uc002rug.2_Missense_Mutation_p.I158T|PREPL_uc002ruh.2_Missense_Mutation_p.I158T|PREPL_uc010fax.2_Missense_Mutation_p.I158T|PREPL_uc002rui.3_Missense_Mutation_p.I69T|PREPL_uc002ruj.1_Missense_Mutation_p.I69T|PREPL_uc002ruk.1_Missense_Mutation_p.I158T	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	158					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.280952	178.943477	187.994507	59	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44571027	44571027	12918	2	A	G	G	G	52	4	PREPL	4	4
NCAPH	23397	broad.mit.edu	37	2	97039033	97039033	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97039033C>G	uc002svz.1	+	c.2170C>G	c.(2170-2172)CTA>GTA	p.L724V	NCAPH_uc010yum.1_Missense_Mutation_p.L700V|NCAPH_uc010fhw.1_Missense_Mutation_p.L713V|NCAPH_uc010yun.1_Missense_Mutation_p.L588V|NCAPH_uc002swa.1_Missense_Mutation_p.L319V	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	724					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)	1		Ovarian(717;0.0221)												0.027273	-41.058071	13.213553	6	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97039033	97039033	10608	2	C	G	G	G	415	32	NCAPH	3	3
CEP97	79598	broad.mit.edu	37	3	101476618	101476618	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101476618G>A	uc003dvk.1	+	c.1168G>A	c.(1168-1170)GAT>AAT	p.D390N	CEP97_uc010hpm.1_Missense_Mutation_p.D356N|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Missense_Mutation_p.D86N|CEP97_uc003dvm.1_Missense_Mutation_p.D228N	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	390	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2														0.18543	59.703632	73.71694	28	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101476618	101476618	3396	3	G	A	A	A	533	41	CEP97	2	2
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:109027921G>A	uc003dxo.2	-	c.348C>T	c.(346-348)ATC>ATT	p.I116I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP.					nucleus	nucleic acid binding			ovary(2)	2														0.033639	-56.153981	21.366797	11	316	KEEP	---	---	---	---	capture		Silent	SNP	109027921	109027921	4918	3	G	A	A	A	473	37	DPPA2	1	1
WDR52	55779	broad.mit.edu	37	3	113120482	113120482	+	Silent	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113120482G>A	uc003eae.1	-	c.1275C>T	c.(1273-1275)CTC>CTT	p.L425L		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	425										central_nervous_system(1)	1														0.04	-14.591796	8.220238	4	96	KEEP	---	---	---	---	capture		Silent	SNP	113120482	113120482	17877	3	G	A	A	A	418	33	WDR52	2	2
PAQR9	344838	broad.mit.edu	37	3	142681704	142681704	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142681704C>T	uc003evg.2	-	c.475G>A	c.(475-477)GCG>ACG	p.A159T	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.157895	5.116958	7.234186	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142681704	142681704	11859	3	C	T	T	T	351	27	PAQR9	1	1
CPA3	1359	broad.mit.edu	37	3	148586705	148586705	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148586705G>C	uc003ewm.2	+	c.148G>C	c.(148-150)GAC>CAC	p.D50H		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	50					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.036496	-20.44997	11.469619	5	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148586705	148586705	3929	3	G	C	C	C	585	45	CPA3	3	3
ROBO2	6092	broad.mit.edu	37	3	77572002	77572002	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77572002G>T	uc003dpz.2	+	c.883G>T	c.(883-885)GCT>TCT	p.A295S	ROBO2_uc003dpy.3_Missense_Mutation_p.A295S|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.A295S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	295	Ig-like C2-type 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.034826	-34.847121	12.479204	7	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77572002	77572002	13993	3	G	T	T	T	598	46	ROBO2	2	2
MAML3	55534	broad.mit.edu	37	4	140641170	140641170	+	Silent	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:140641170C>G	uc003ihz.1	-	c.2709G>C	c.(2707-2709)GGG>GGC	p.G903G	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.G371G	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)									182				0.212389	225.059879	259.613538	96	356	KEEP	---	---	---	---	capture		Silent	SNP	140641170	140641170	9590	4	C	G	G	G	275	22	MAML3	3	3
C4orf39	152756	broad.mit.edu	37	4	165878524	165878524	+	Nonsense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165878524C>G	uc003iqx.1	+	c.350C>G	c.(349-351)TCA>TGA	p.S117*	TRIM61_uc003iqw.2_Intron	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN	hypothetical protein LOC152756	117											0	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.146)										0.047619	-10.615385	12.258458	5	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	165878524	165878524	2363	4	C	G	G	G	377	29	C4orf39	5	3
FRYL	285527	broad.mit.edu	37	4	48636353	48636353	+	Silent	SNP	A	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48636353A>C	uc003gyh.1	-	c.75T>G	c.(73-75)GCT>GCG	p.A25A	FRYL_uc003gyk.2_Silent_p.A25A|FRYL_uc003gyl.1_Silent_p.A76A|FRYL_uc003gym.1_Silent_p.A25A	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.264368	122.649357	131.403232	46	128	KEEP	---	---	---	---	capture		Silent	SNP	48636353	48636353	6314	4	A	C	C	C	80	7	FRYL	4	4
THAP6	152815	broad.mit.edu	37	4	76452395	76452395	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76452395G>C	uc003him.2	+	c.640G>C	c.(640-642)GAG>CAG	p.E214Q	THAP6_uc003hin.2_Missense_Mutation_p.E172Q|THAP6_uc011cbm.1_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.2_Missense_Mutation_p.E214Q	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	214						microtubule cytoskeleton	DNA binding|metal ion binding				0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)											0.028986	-36.241666	14.272139	6	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76452395	76452395	16376	4	G	C	C	C	533	41	THAP6	3	3
CCNI	10983	broad.mit.edu	37	4	77969418	77969418	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77969418C>T	uc003hkm.2	-	c.1088G>A	c.(1087-1089)GGA>GAA	p.G363E	CCNI_uc011ccb.1_Missense_Mutation_p.G349E	NM_006835	NP_006826	Q14094	CCNI_HUMAN	cyclin I	363					spermatogenesis					ovary(1)	1														0.050562	-19.470555	18.631797	9	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77969418	77969418	3053	4	C	T	T	T	390	30	CCNI	2	2
DMXL1	1657	broad.mit.edu	37	5	118482991	118482991	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118482991G>A	uc010jcl.1	+	c.2737G>A	c.(2737-2739)GAA>AAA	p.E913K	DMXL1_uc003ksd.2_Missense_Mutation_p.E913K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	913										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.040984	-17.527317	10.129924	5	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118482991	118482991	4776	5	G	A	A	A	429	33	DMXL1	2	2
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140581561C>T	uc003liy.2	+	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	PCDHB11_uc011daj.1_Silent_p.D373D	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	738	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.032967	-48.604082	16.337038	9	264	KEEP	---	---	---	---	capture		Silent	SNP	140581561	140581561	11956	5	C	T	T	T	246	19	PCDHB11	1	1
SH3PXD2B	285590	broad.mit.edu	37	5	171765853	171765853	+	Silent	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171765853C>T	uc003mbr.2	-	c.2256G>A	c.(2254-2256)CAG>CAA	p.Q752Q		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	752	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.142857	26.359631	41.853769	18	108	KEEP	---	---	---	---	capture		Silent	SNP	171765853	171765853	14749	5	C	T	T	T	363	28	SH3PXD2B	2	2
RNF44	22838	broad.mit.edu	37	5	175959120	175959120	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175959120C>T	uc003mek.1	-	c.182G>A	c.(181-183)CGA>CAA	p.R61Q	RNF44_uc011dfo.1_5'UTR|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	61	Pro-rich.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.142857	5.212045	7.792039	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175959120	175959120	13975	5	C	T	T	T	403	31	RNF44	1	1
ADAMTS16	170690	broad.mit.edu	37	5	5191834	5191834	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5191834G>A	uc003jdl.2	+	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R415H|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R415H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	415	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.031746	-56.401023	19.134263	10	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5191834	5191834	262	5	G	A	A	A	494	38	ADAMTS16	1	1
RGNEF	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:73163796G>A	uc010izf.2	+	c.2248G>A	c.(2248-2250)GGA>AGA	p.G750R	RGNEF_uc003kcx.2_Missense_Mutation_p.G750R|RGNEF_uc011csq.1_Missense_Mutation_p.G750R|RGNEF_uc011csr.1_Missense_Mutation_p.G437R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	750					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)										0.3	40.803493	42.591601	15	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73163796	73163796	13756	5	G	A	A	A	559	43	RGNEF	2	2
NMBR	4829	broad.mit.edu	37	6	142409491	142409491	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142409491G>C	uc003qiu.2	-	c.305C>G	c.(304-306)TCG>TGG	p.S102W		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	102	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)	3	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)										0.050633	-6.250449	10.636156	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142409491	142409491	10890	6	G	C	C	C	481	37	NMBR	3	3
FILIP1	27145	broad.mit.edu	37	6	76063272	76063272	+	Silent	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76063272C>T	uc010kbe.2	-	c.621G>A	c.(619-621)CTG>CTA	p.L207L	FILIP1_uc003phy.1_Silent_p.L204L|FILIP1_uc003phz.2_Silent_p.L105L|FILIP1_uc003pia.2_Silent_p.L204L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	204	Potential.										0														0.21608	204.614871	234.231617	86	312	KEEP	---	---	---	---	capture		Silent	SNP	76063272	76063272	6132	6	C	T	T	T	262	21	FILIP1	2	2
SLC26A3	1811	broad.mit.edu	37	7	107416986	107416986	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107416986A>G	uc003ver.2	-	c.1588T>C	c.(1588-1590)TAT>CAT	p.Y530H	SLC26A3_uc003ves.2_Missense_Mutation_p.Y495H	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	530	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)	3														0.310345	116.266272	119.977761	36	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107416986	107416986	15015	7	A	G	G	G	182	14	SLC26A3	4	4
CAPZA2	830	broad.mit.edu	37	7	116546335	116546335	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116546335G>C	uc003vil.2	+	c.445G>C	c.(445-447)GAT>CAT	p.D149H	CAPZA2_uc011knk.1_Intron	NM_006136	NP_006127	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line,	149					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding				0	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)											0.047619	-10.319696	12.557979	5	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116546335	116546335	2760	7	G	C	C	C	429	33	CAPZA2	3	3
WDR91	29062	broad.mit.edu	37	7	134896244	134896244	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134896244G>A	uc003vsp.2	-	c.11C>T	c.(10-12)GCC>GTC	p.A4V		NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	4										breast(2)|ovary(1)	3														0.173913	20.788987	27.703422	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134896244	134896244	17912	7	G	A	A	A	546	42	WDR91	2	2
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136938242C>A	uc003vtq.2	-	c.258G>T	c.(256-258)AAG>AAT	p.K86N	PTN_uc010lmx.2_Missense_Mutation_p.K86N|PTN_uc003vtr.1_Missense_Mutation_p.K86N	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			pancreas(1)	1														0.251462	100.815807	110.437391	43	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136938242	136938242	13223	7	C	A	A	A	415	32	PTN	2	2
ESYT2	57488	broad.mit.edu	37	7	158552780	158552780	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158552780G>T	uc003wob.1	-	c.1436C>A	c.(1435-1437)ACG>AAG	p.T479K	ESYT2_uc003woc.1_Missense_Mutation_p.T303K|ESYT2_uc003wod.1_Missense_Mutation_p.T479K|ESYT2_uc003woa.1_Missense_Mutation_p.T35K	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	507						integral to membrane|plasma membrane				kidney(1)	1														0.16129	42.22414	55.756005	20	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158552780	158552780	5458	7	G	T	T	T	520	40	ESYT2	1	1
ZKSCAN1	7586	broad.mit.edu	37	7	99631162	99631162	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99631162G>C	uc003usk.1	+	c.1034G>C	c.(1033-1035)AGA>ACA	p.R345T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.R309T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.R132T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	345					regulation of transcription, DNA-dependent|viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)											0.054795	-6.565971	8.682666	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99631162	99631162	18277	7	G	C	C	C	429	33	ZKSCAN1	3	3
ZKSCAN1	7586	broad.mit.edu	37	7	99631261	99631261	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99631261G>A	uc003usk.1	+	c.1133G>A	c.(1132-1134)AGA>AAA	p.R378K	ZKSCAN1_uc003usl.1_Missense_Mutation_p.R342K|ZKSCAN1_uc003usm.1_Missense_Mutation_p.R165K	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	378	C2H2-type 1.				regulation of transcription, DNA-dependent|viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)											0.047244	-16.666232	11.079836	6	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99631261	99631261	18277	7	G	A	A	A	429	33	ZKSCAN1	2	2
COL14A1	7373	broad.mit.edu	37	8	121313043	121313043	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121313043C>G	uc003yox.2	+	c.4387C>G	c.(4387-4389)CCA>GCA	p.P1463A	COL14A1_uc003yoz.2_Missense_Mutation_p.P428A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1463	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.03022	-66.402141	21.554236	11	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121313043	121313043	3809	8	C	G	G	G	234	18	COL14A1	3	3
MAF1	84232	broad.mit.edu	37	8	145160793	145160793	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145160793G>C	uc003zbc.1	+	c.105G>C	c.(103-105)AAG>AAC	p.K35N	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	35					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulator activity				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.034884	-40.726716	19.948801	9	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145160793	145160793	9533	8	G	C	C	C	425	33	MAF1	3	3
MCF2	4168	broad.mit.edu	37	X	138698557	138698557	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138698557C>A	uc011mwo.1	-	c.1255G>T	c.(1255-1257)GCT>TCT	p.A419S	MCF2_uc004fau.2_Missense_Mutation_p.A359S|MCF2_uc004fav.2_Missense_Mutation_p.A359S|MCF2_uc011mwl.1_Missense_Mutation_p.A320S|MCF2_uc010nsh.1_Missense_Mutation_p.A359S|MCF2_uc011mwm.1_Missense_Mutation_p.A320S|MCF2_uc011mwn.1_Missense_Mutation_p.A504S|MCF2_uc004faw.2_Missense_Mutation_p.A419S	NM_001099855	NP_001093325	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)									693				0.160714	49.409543	67.824498	27	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138698557	138698557	9767	23	C	A	A	A	325	25	MCF2	2	2
PHKA2	5256	broad.mit.edu	37	X	18926043	18926043	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18926043C>T	uc004cyv.3	-	c.2492G>A	c.(2491-2493)AGG>AAG	p.R831K	PHKA2_uc004cyu.3_Missense_Mutation_p.R129K|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	831	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.031469	-50.170267	18.543259	9	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18926043	18926043	12268	23	C	T	T	T	312	24	PHKA2	2	2
OPHN1	4983	broad.mit.edu	37	X	67430108	67430108	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3919-01	TCGA-44-3919-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67430108G>A	uc004dww.3	-	c.719C>T	c.(718-720)TCC>TTC	p.S240F	OPHN1_uc011mpg.1_Missense_Mutation_p.S240F|OPHN1_uc004dwx.2_Missense_Mutation_p.S240F	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	240					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2														0.245614	71.45686	78.165993	28	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67430108	67430108	11281	23	G	A	A	A	533	41	OPHN1	2	2
