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
JMJD1C	221037	broad.mit.edu	36	10	64637771	64637771	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64637771C>T	uc001jmn.1	-	c.3664G>A	c.(3664-3666)GGC>AGC	p.G1222S	JMJD1C_uc001jml.1_Missense_Mutation_p.G1003S|JMJD1C_uc001jmm.1_Missense_Mutation_p.G934S|JMJD1C_uc009xpi.1_Missense_Mutation_p.G1040S|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.G259S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1222					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.891892	240.602329	251.870637	66	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64637771	64637771	8254	10	C	T	T	24	24	JMJD1C	T	2	2
TCTN3	26123	broad.mit.edu	36	10	97437020	97437020	+	Missense_Mutation	SNP	C	A	A			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97437020C>A	uc001klb.2	-	c.710G>T	c.(709-711)GGA>GTA	p.G237V	TCTN3_uc009xuw.1_Missense_Mutation_p.G86V|TCTN3_uc001kla.2_Missense_Mutation_p.G86V|TCTN3_uc001kld.2_Missense_Mutation_p.G255V|TCTN3_uc009xux.1_Missense_Mutation_p.G86V|TCTN3_uc009xuy.1_Intron	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	237	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)										0.166667	13.001765	17.42613	7	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97437020	97437020	16250	10	C	A	A	30	30	TCTN3	A	3	3
OR4X2	119764	broad.mit.edu	36	11	48223480	48223480	+	Silent	SNP	C	G	G			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:48223480C>G	uc001ngs.1	+	c.249C>G	c.(247-249)GTC>GTG	p.V83V		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.207171	143.16048	163.10309	52	199	CC		KEEP	---	---	---	---	capture			Silent	SNP	48223480	48223480	11495	11	C	G	G	29	29	OR4X2	G	3	3
CNGA4	1262	broad.mit.edu	36	11	6217988	6217988	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6217988G>A	uc001mco.2	+	c.388G>A	c.(388-390)GTG>ATG	p.V130M	CNGA4_uc001mcn.2_Missense_Mutation_p.V90M	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	130	Helical; Name=H3; (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.768166	793.093791	812.146991	222	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6217988	6217988	3737	11	G	A	A	40	40	CNGA4	A	1	1
PAK1	5058	broad.mit.edu	36	11	76744445	76744445	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76744445T>C	uc001oyg.2	-	c.688A>G	c.(688-690)ACT>GCT	p.T230A	PAK1_uc001oyh.2_Missense_Mutation_p.T230A|PAK1_uc001oyi.1_Missense_Mutation_p.T230A	NM_001128620	NP_001122092	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 1	230	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2	all_cancers(14;1.75e-18)									735				0.190594	163.522178	199.709848	77	327	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76744445	76744445	11815	11	T	C	C	59	59	PAK1	C	4	4
DHX37	57647	broad.mit.edu	36	12	124033072	124033072	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:124033072C>G	uc001ugy.1	-	c.327G>C	c.(325-327)GAG>GAC	p.E109D		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	109							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)										0.454545	338.3783	338.773866	100	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124033072	124033072	4689	12	C	G	G	32	32	DHX37	G	3	3
GPR133	283383	broad.mit.edu	36	12	130189721	130189721	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:130189721G>C	uc001uit.2	+	c.2585G>C	c.(2584-2586)AGC>ACC	p.S862T	GPR133_uc009zyo.1_Missense_Mutation_p.S144T|GPR133_uc009zyp.1_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	862	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)										0.363636	11.497509	11.677255	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130189721	130189721	6917	12	G	C	C	34	34	GPR133	C	3	3
POLE	5426	broad.mit.edu	36	12	131712331	131712331	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131712331C>T	uc001uks.1	-	c.6630G>A	c.(6628-6630)AAG>AAA	p.K2210K	POLE_uc001ukq.1_Silent_p.K420K|POLE_uc001ukr.1_Silent_p.K1014K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA polymerase epsilon catalytic subunit	2210					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.128	25.210186	42.072512	16	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	131712331	131712331	12624	12	C	T	T	28	28	POLE	T	2	2
USP5	8078	broad.mit.edu	36	12	6835877	6835877	+	Splice_Site_SNP	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6835877T>C	uc001qri.2	+	c.e5_splice_site			USP5_uc001qrh.2_Splice_Site_SNP	NM_001098536	NP_001092006			ubiquitin specific peptidase 5 isoform 1						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding				0														0.172619	56.264905	73.289714	29	139	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	6835877	6835877	17645	12	T	C	C	59	59	USP5	C	5	4
PTPN6	5777	broad.mit.edu	36	12	6939552	6939552	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6939552G>T	uc009zfl.1	+	c.1470G>T	c.(1468-1470)ATG>ATT	p.M490I	PTPN6_uc001qsa.1_Missense_Mutation_p.M492I|PTPN6_uc001qsb.2_Missense_Mutation_p.M490I	NM_080549	NP_536859	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	490	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1														0.195122	16.67241	20.231454	8	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6939552	6939552	13249	12	G	T	T	47	47	PTPN6	T	3	3
GOLGA2B	55592	broad.mit.edu	36	12	99075140	99075140	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99075140G>T	uc001tgs.1	-	c.316C>A	c.(316-318)CCA>ACA	p.P106T	GOLGA2B_uc001tgu.1_Missense_Mutation_p.P106T|GOLGA2B_uc001tgt.1_Non-coding_Transcript	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0														0.163265	14.565498	19.850206	8	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99075140	99075140	6822	12	G	T	T	42	42	GOLGA2B	T	3	3
SACS	26278	broad.mit.edu	36	13	22807322	22807322	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:22807322C>T	uc001uon.2	-	c.8693G>A	c.(8692-8694)CGT>CAT	p.R2898H	SACS_uc001uoo.2_Missense_Mutation_p.R2751H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2898					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.673077	120.039585	121.420921	35	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22807322	22807322	14284	13	C	T	T	19	19	SACS	T	1	1
ATP7B	540	broad.mit.edu	36	13	51413286	51413286	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:51413286C>T	uc001vfw.1	-	c.3488G>A	c.(3487-3489)AGC>AAC	p.S1163N	ATP7B_uc001vfv.1_Missense_Mutation_p.S435N|ATP7B_uc001vfx.1_Missense_Mutation_p.S956N|ATP7B_uc001vfy.1_Missense_Mutation_p.S1052N|ATP7B_uc010adv.1_Missense_Mutation_p.S733N	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1163	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.515152	345.055497	345.095071	102	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51413286	51413286	1210	13	C	T	T	28	28	ATP7B	T	2	2
GALK2	2585	broad.mit.edu	36	15	47363143	47363143	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47363143A>C	uc001zxj.1	+	c.692A>C	c.(691-693)GAG>GCG	p.E231A	GALK2_uc001zxi.1_Missense_Mutation_p.E220A|GALK2_uc001zxk.1_Non-coding_Transcript	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	231					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)										0.107692	37.396633	87.000278	35	290	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47363143	47363143	6468	15	A	C	C	11	11	GALK2	C	4	4
TRPM7	54822	broad.mit.edu	36	15	48692118	48692118	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48692118C>T	uc001zyt.2	-	c.1971G>A	c.(1969-1971)AAG>AAA	p.K657K	TRPM7_uc010bew.1_Silent_p.K657K|TRPM7_uc001zyu.2_Silent_p.K215K	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	657	Cytoplasmic (Potential).				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)						1796				0.369231	149.257387	151.21429	48	82	CC		KEEP	---	---	---	---	capture			Silent	SNP	48692118	48692118	17142	15	C	T	T	32	32	TRPM7	T	2	2
HS3ST6	64711	broad.mit.edu	36	16	1901777	1901777	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1901777C>T	uc002cnf.1	-	c.751G>A	c.(751-753)GCC>ACC	p.A251T		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	251											0														0.377778	45.959868	46.551128	17	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1901777	1901777	7663	16	C	T	T	27	27	HS3ST6	T	1	1
CREBBP	1387	broad.mit.edu	36	16	3840434	3840434	+	Silent	SNP	T	G	G			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3840434T>G	uc002cvv.1	-	c.663A>C	c.(661-663)GGA>GGC	p.G221G	CREBBP_uc002cvw.1_Silent_p.G221G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	221					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)						748				0.296	95.610785	100.277237	37	88	TT		KEEP	---	---	---	---	capture			Silent	SNP	3840434	3840434	4000	16	T	G	G	54	54	CREBBP	G	4	4
CDH8	1006	broad.mit.edu	36	16	60245332	60245332	+	Missense_Mutation	SNP	A	T	T			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:60245332A>T	uc002eog.1	-	c.2081T>A	c.(2080-2082)TTT>TAT	p.F694Y		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	694	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.538462	509.546541	509.898754	147	126	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60245332	60245332	3245	16	A	T	T	1	1	CDH8	T	4	4
MSLNL	401827	broad.mit.edu	36	16	770629	770629	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:770629T>C	uc002cjz.1	-	c.373A>G	c.(373-375)ACG>GCG	p.T125A		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.225806	16.502414	18.650827	7	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	770629	770629	10275	16	T	C	C	59	59	MSLNL	C	4	4
CENPBD1	92806	broad.mit.edu	36	16	88565734	88565734	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88565734C>T	uc002fpr.1	-	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	AFG3L1P_uc002fps.1_5'Flank|AFG3L1P_uc002fpt.1_5'Flank|AFG3L1P_uc002fpu.1_5'Flank|AFG3L1P_uc002fpv.1_5'Flank|AFG3L1P_uc002fpw.1_5'Flank|AFG3L1P_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	hypothetical protein LOC92806	33	HTH psq-type.					chromosome, centromeric region|nucleus	DNA binding				0														0.368421	40.236979	40.816408	14	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88565734	88565734	3361	16	C	T	T	31	31	CENPBD1	T	1	1
SDK2	54549	broad.mit.edu	36	17	68909734	68909734	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68909734T>C	uc010dfm.1	-	c.1498A>G	c.(1498-1500)ACC>GCC	p.T500A	SDK2_uc010dfn.1_Missense_Mutation_p.T500A|SDK2_uc002jjt.2_Missense_Mutation_p.T35A			Q58EX2	SDK2_HUMAN	Uncharacterized protein SDK2.	876	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.170213	14.274907	19.109653	8	39	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68909734	68909734	14455	17	T	C	C	59	59	SDK2	C	4	4
TMEM104	54868	broad.mit.edu	36	17	70344117	70344117	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70344117A>G	uc002jls.2	+	c.1187A>G	c.(1186-1188)GAC>GGC	p.D396G	TMEM104_uc010dfx.1_Missense_Mutation_p.D396G	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	396	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)													0.348485	65.908521	67.243947	23	43	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70344117	70344117	16548	17	A	G	G	10	10	TMEM104	G	4	4
TBC1D16	125058	broad.mit.edu	36	17	75599094	75599094	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75599094G>A	uc002jxj.1	-	c.239C>T	c.(238-240)GCA>GTA	p.A80V		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	80						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			Ovarian(14;397 562 4850 31922 49378)								0.25	6.920528	7.601815	3	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75599094	75599094	16127	17	G	A	A	46	46	TBC1D16	A	2	2
FAM38B	63895	broad.mit.edu	36	18	10679795	10679795	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:10679795C>T	uc002koq.1	-	c.581G>A	c.(580-582)CGC>CAC	p.R194H		NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	hypothetical protein LOC63895	2339	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1														0.493506	125.651544	125.654282	38	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10679795	10679795	5776	18	C	T	T	27	27	FAM38B	T	1	1
RTTN	25914	broad.mit.edu	36	18	65984291	65984291	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:65984291A>G	uc002lkp.1	-	c.1916T>C	c.(1915-1917)CTG>CCG	p.L639P	RTTN_uc002lko.1_Non-coding_Transcript	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	639							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.40625	161.77058	162.754954	52	76	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65984291	65984291	14217	18	A	G	G	7	7	RTTN	G	4	4
SMARCA4	6597	broad.mit.edu	36	19	10993542	10993542	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10993542G>A	uc010dxo.1	+	c.2758G>A	c.(2758-2760)GAG>AAG	p.E920K	SMARCA4_uc002mqf.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxp.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxq.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxr.1_Missense_Mutation_p.E920K|SMARCA4_uc002mqj.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxs.1_Missense_Mutation_p.E920K|SMARCA4_uc002mqh.2_Missense_Mutation_p.E43K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E140K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E123K	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	920	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.380952	46.989235	47.511434	16	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10993542	10993542	15268	19	G	A	A	37	37	SMARCA4	A	1	1
GRIK5	2901	broad.mit.edu	36	19	47201844	47201844	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47201844C>T	uc002osj.1	-	c.2134G>A	c.(2134-2136)GTC>ATC	p.V712I	GRIK5_uc002osi.1_Missense_Mutation_p.V284I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	712	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.3	17.843451	18.557468	6	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47201844	47201844	7056	19	C	T	T	19	19	GRIK5	T	1	1
TMEM146	257062	broad.mit.edu	36	19	5684870	5684870	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5684870G>A	uc002mda.1	+	c.280G>A	c.(280-282)GGC>AGC	p.G94S	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146	94	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.130435	15.730473	24.894677	9	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5684870	5684870	16592	19	G	A	A	39	39	TMEM146	A	1	1
NLRP11	204801	broad.mit.edu	36	19	61012946	61012946	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61012946C>T	uc002qma.1	-	c.842G>A	c.(841-843)CGT>CAT	p.R281H	NLRP11_uc002qlz.1_Missense_Mutation_p.R182H|NLRP11_uc002qmb.1_Missense_Mutation_p.R182H|NLRP11_uc002qmc.1_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	281	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)										0.869919	390.405996	406.796477	107	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61012946	61012946	10876	19	C	T	T	19	19	NLRP11	T	1	1
MCOLN1	57192	broad.mit.edu	36	19	7497387	7497387	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7497387C>T	uc002mgo.1	+	c.300C>T	c.(298-300)GCC>GCT	p.A100A	MCOLN1_uc002mgp.1_5'UTR	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	100					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1														0.532	455.781716	456.003941	133	117	CC		KEEP	---	---	---	---	capture			Silent	SNP	7497387	7497387	9784	19	C	T	T	24	24	MCOLN1	T	2	2
MUC16	94025	broad.mit.edu	36	19	8919267	8919267	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8919267A>G	uc002mkp.1	-	c.29179T>C	c.(29179-29181)TCC>CCC	p.S9727P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9729	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.217647	99.69877	112.181084	37	133	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8919267	8919267	10367	19	A	G	G	9	9	MUC16	G	4	4
ITGA10	8515	broad.mit.edu	36	1	144244149	144244149	+	Nonsense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144244149G>T	uc001eoa.1	+	c.1111G>T	c.(1111-1113)GAA>TAA	p.E371*	ITGA10_uc009wiw.1_Nonsense_Mutation_p.E228*	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	371	Extracellular (Potential).|FG-GAP 3.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)								p.E371K(SF8657-Tumor)	450				0.134897	74.602871	118.68483	46	295	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	144244149	144244149	8177	1	G	T	T	41	41	ITGA10	T	5	3
PTPRC	5788	broad.mit.edu	36	1	196967452	196967452	+	Nonsense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196967452G>T	uc001gur.1	+	c.1942G>T	c.(1942-1944)GGA>TGA	p.G648*	PTPRC_uc009wzf.1_Nonsense_Mutation_p.G536*|PTPRC_uc001gus.1_Nonsense_Mutation_p.G600*|PTPRC_uc001gut.1_Nonsense_Mutation_p.G487*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	648	Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.09375	16.506625	48.35139	18	174	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	196967452	196967452	13254	1	G	T	T	35	35	PTPRC	T	5	3
RAB3GAP2	25782	broad.mit.edu	36	1	218393213	218393213	+	Silent	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:218393213A>G	uc001hme.1	-	c.3804T>C	c.(3802-3804)GAT>GAC	p.D1268D	RAB3GAP2_uc009xdv.1_Silent_p.D1268D|RAB3GAP2_uc001hmf.1_Non-coding_Transcript|RAB3GAP2_uc001hmg.1_Silent_p.D848D|RAB3GAP2_uc001hmh.1_Silent_p.D212D	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1268					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)										0.336323	230.052248	235.339247	75	148	AA		KEEP	---	---	---	---	capture			Silent	SNP	218393213	218393213	13395	1	A	G	G	8	8	RAB3GAP2	G	4	4
OBSCN	84033	broad.mit.edu	36	1	226528670	226528670	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226528670T>C	uc009xez.1	+	c.5585T>C	c.(5584-5586)GTG>GCG	p.V1862A	OBSCN_uc001hsn.1_Missense_Mutation_p.V1862A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1862	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.5	18.748466	18.748466	6	6	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226528670	226528670	11217	1	T	C	C	59	59	OBSCN	C	4	4
EPHB2	2048	broad.mit.edu	36	1	23112574	23112574	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23112574G>A	uc009vqj.1	+	c.2885G>A	c.(2884-2886)GGC>GAC	p.G962D	EPHB2_uc001bge.1_Missense_Mutation_p.G963D|EPHB2_uc001bgf.1_Missense_Mutation_p.G962D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	962	Cytoplasmic (Potential).|SAM.				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)						437				0.269231	42.526934	45.025631	14	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23112574	23112574	5368	1	G	A	A	42	42	EPHB2	A	2	2
TMEM53	79639	broad.mit.edu	36	1	44893392	44893392	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44893392C>T	uc001cmc.1	-	c.260G>A	c.(259-261)CGT>CAT	p.R87H	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.1_Missense_Mutation_p.R14H|TMEM53_uc009vxh.1_Intron	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	87						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.447368	274.053248	274.511006	85	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44893392	44893392	16718	1	C	T	T	19	19	TMEM53	T	1	1
TAL1	6886	broad.mit.edu	36	1	47458076	47458076	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47458076C>T	uc001cqx.1	-	c.899G>A	c.(898-900)AGC>AAC	p.S300N	TAL1_uc009vyq.1_Missense_Mutation_p.A57T|TAL1_uc001cqy.1_Missense_Mutation_p.S300N	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	300					cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0										17				0.451613	89.293315	89.419629	28	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47458076	47458076	16062	1	C	T	T	28	28	TAL1	T	2	2
DAB1	1600	broad.mit.edu	36	1	57264278	57264278	+	Silent	SNP	C	A	A			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57264278C>A	uc001cys.1	-	c.750G>T	c.(748-750)GGG>GGT	p.G250G	DAB1_uc001cyt.1_Silent_p.G248G|DAB1_uc001cyq.1_Silent_p.G248G|DAB1_uc001cyr.1_Silent_p.G164G|DAB1_uc009vzw.1_Silent_p.G232G|DAB1_uc009vzx.1_Silent_p.G250G	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	283					cell differentiation|nervous system development					ovary(1)	1										395				0.54703	716.508807	717.288488	221	183	CC		KEEP	---	---	---	---	capture			Silent	SNP	57264278	57264278	4383	1	C	A	A	22	22	DAB1	A	3	3
C1orf141	400757	broad.mit.edu	36	1	67331638	67331638	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67331638G>C	uc001ddl.1	-	c.841C>G	c.(841-843)CAG>GAG	p.Q281E	C1orf141_uc001ddm.1_Missense_Mutation_p.Q281E|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	281										ovary(1)	1														0.448529	216.859342	217.173219	61	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67331638	67331638	2068	1	G	C	C	48	48	C1orf141	C	3	3
COL24A1	255631	broad.mit.edu	36	1	86260826	86260826	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86260826C>T	uc001dlj.1	-	c.2185G>A	c.(2185-2187)GGG>AGG	p.G729R	COL24A1_uc001dlk.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	729					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.171429	29.359662	36.499837	12	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86260826	86260826	3821	1	C	T	T	23	23	COL24A1	T	1	1
CLCA1	1179	broad.mit.edu	36	1	86729597	86729597	+	Silent	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86729597G>A	uc001dlt.1	+	c.1419G>A	c.(1417-1419)GGG>GGA	p.G473G	CLCA1_uc001dls.1_Silent_p.G412G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	473	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)										0.488235	292.921859	292.94228	83	87	GG		KEEP	---	---	---	---	capture			Silent	SNP	86729597	86729597	3593	1	G	A	A	43	43	CLCA1	A	2	2
PTPRT	11122	broad.mit.edu	36	20	40740053	40740053	+	Silent	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40740053G>A	uc010ggj.1	-	c.1020C>T	c.(1018-1020)GTC>GTT	p.V340V	PTPRT_uc002xkg.1_Silent_p.V340V	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	340	Extracellular (Potential).|Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.261905	239.643774	256.881371	88	248	GG		KEEP	---	---	---	---	capture			Silent	SNP	40740053	40740053	13270	20	G	A	A	37	37	PTPRT	A	1	1
PTPRT	11122	broad.mit.edu	36	20	40833574	40833574	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40833574T>C	uc010ggj.1	-	c.599A>G	c.(598-600)AAC>AGC	p.N200S	PTPRT_uc002xkg.1_Missense_Mutation_p.N200S	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	200	Extracellular (Potential).|Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.109489	113.827858	217.236651	75	610	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40833574	40833574	13270	20	T	C	C	60	60	PTPRT	C	4	4
DYRK1A	1859	broad.mit.edu	36	21	37784498	37784498	+	Silent	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:37784498A>G	uc002ywk.1	+	c.816A>G	c.(814-816)GCA>GCG	p.A272A	DYRK1A_uc002ywi.1_Silent_p.A272A|DYRK1A_uc002ywj.1_Silent_p.A263A|DYRK1A_uc002ywm.1_Silent_p.A272A|DYRK1A_uc002ywl.1_Silent_p.A272A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	272	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(1)	1						Melanoma(114;464 1602 31203 43785 45765)				141				0.319149	180.628558	186.09562	60	128	AA		KEEP	---	---	---	---	capture			Silent	SNP	37784498	37784498	5040	21	A	G	G	6	6	DYRK1A	G	4	4
MX2	4600	broad.mit.edu	36	21	41697070	41697070	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:41697070T>C	uc002yzf.1	+	c.1580T>C	c.(1579-1581)ATC>ACC	p.I527T	MX2_uc002yzg.1_Missense_Mutation_p.I250T|MX2_uc010gop.1_Missense_Mutation_p.I9T	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	527					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)												0.1	9.071769	20.258611	7	63	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41697070	41697070	10392	21	T	C	C	50	50	MX2	C	4	4
TBC1D8	11138	broad.mit.edu	36	2	101073249	101073249	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101073249A>G	uc010fiv.1	-	c.137T>C	c.(136-138)GTC>GCC	p.V46A		NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	46					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.125683	39.498907	64.531902	23	160	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101073249	101073249	16151	2	A	G	G	10	10	TBC1D8	G	4	4
LRP1B	53353	broad.mit.edu	36	2	140707245	140707245	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:140707245T>C	uc002tvj.1	-	c.13780A>G	c.(13780-13782)ATA>GTA	p.I4594V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4594	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.488636	152.325639	152.335418	43	45	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140707245	140707245	9328	2	T	C	C	49	49	LRP1B	C	4	4
APOB	338	broad.mit.edu	36	2	21104357	21104357	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21104357G>T	uc002red.1	-	c.1915C>A	c.(1915-1917)CTC>ATC	p.L639I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	639	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.335196	188.936621	193.242532	60	119	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21104357	21104357	796	2	G	T	T	36	36	APOB	T	3	3
TRPM8	79054	broad.mit.edu	36	2	234512509	234512509	+	Silent	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234512509G>A	uc002vvh.1	+	c.477G>A	c.(475-477)CCG>CCA	p.P159P	TRPM8_uc010fyj.1_5'UTR|TRPM8_uc002vvi.2_Silent_p.P109P|TRPM8_uc002vvj.2_Silent_p.P82P	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	159	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.482759	88.193891	88.208921	28	30	GG		KEEP	---	---	---	---	capture			Silent	SNP	234512509	234512509	17143	2	G	A	A	38	38	TRPM8	A	1	1
ATR	545	broad.mit.edu	36	3	143660799	143660800	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-02-2466-01	TCGA-02-2466-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:143660799_143660800GA>TT	uc003eux.2	-	c.7308_7309TC>AA	c.(7306-7311)TTTCAT>TTAAAT	p.2436_2437FH>LN	ATR_uc003euy.1_Missense_Mutation_p.322_323FH>LN	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2436_2437	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.328571	140.195922	143.847019	46	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	143660799	143660800	1223	3	GA	TT	TT	45	45	ATR	TT	3	3
XIRP1	165904	broad.mit.edu	36	3	39205076	39205076	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39205076G>A	uc003cjk.1	-	c.865C>T	c.(865-867)CGG>TGG	p.R289W	XIRP1_uc003cji.2_Missense_Mutation_p.R289W|XIRP1_uc003cjj.2_Intron|XIRP1_uc010hhp.1_Missense_Mutation_p.R289W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	289							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.5625	57.252291	57.361192	18	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39205076	39205076	18010	3	G	A	A	38	38	XIRP1	A	1	1
ZNF619	285267	broad.mit.edu	36	3	40503725	40503725	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40503725C>T	uc010hhz.1	+	c.693C>T	c.(691-693)ACC>ACT	p.T231T	ZNF619_uc003ckj.1_Silent_p.T224T	NM_173656	NP_775927	C9JRN5	C9JRN5_HUMAN	zinc finger protein 619 isoform 4	240					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)										0.472081	313.161168	313.294712	93	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	40503725	40503725	18638	3	C	T	T	24	24	ZNF619	T	2	2
CCDC12	151903	broad.mit.edu	36	3	46939822	46939822	+	Splice_Site_SNP	SNP	C	A	A			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:46939822C>A	uc003cqo.1	-	c.e5_splice_site				NM_144716	NP_653317			coiled-coil domain containing 12												0		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)										0.388889	21.720528	21.915322	7	11	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	46939822	46939822	2875	3	C	A	A	18	18	CCDC12	A	5	3
AMIGO3	386724	broad.mit.edu	36	3	49731725	49731725	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49731725G>T	uc003cxj.1	-	c.178C>A	c.(178-180)CCT>ACT	p.P60T	RNF123_uc003cxh.1_Intron|RNF123_uc003cxi.1_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	60	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)								OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.470588	73.807132	73.843968	24	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49731725	49731725	580	3	G	T	T	44	44	AMIGO3	T	3	3
DNAH1	25981	broad.mit.edu	36	3	52363906	52363906	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52363906A>G	uc003dds.1	+	c.3488A>G	c.(3487-3489)GAC>GGC	p.D1163G		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1163	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.261538	52.050153	55.391638	17	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52363906	52363906	4779	3	A	G	G	10	10	DNAH1	G	4	4
KIAA1109	84162	broad.mit.edu	36	4	123427218	123427218	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2466-01	TCGA-02-2466-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:123427218A>G	uc003ieh.1	+	c.9110A>G	c.(9109-9111)GAT>GGT	p.D3037G	KIAA1109_uc003iel.1_Missense_Mutation_p.D972G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	hypothetical protein LOC84162	3037					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.442231	369.992708	370.722056	111	140	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123427218	123427218	8516	4	A	G	G	12	12	KIAA1109	G	4	4
BOD1L	259282	broad.mit.edu	36	4	13215635	13215635	+	Missense_Mutation	SNP	T	A	A			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:13215635T>A	uc003gmz.1	-	c.1987A>T	c.(1987-1989)ATC>TTC	p.I663F	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	hypothetical protein LOC259282	663	Lys-rich.						DNA binding			ovary(5)|breast(1)	6														0.308157	274.009526	284.878766	102	229	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13215635	13215635	1508	4	T	A	A	49	49	BOD1L	A	4	4
HTT	3064	broad.mit.edu	36	4	3178869	3178869	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3178869G>A	uc010icr.1	+	c.6145G>A	c.(6145-6147)GGG>AGG	p.G2049R		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2047					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			ovary(1)|lung(1)	2		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)										0.409091	30.071657	30.230252	9	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3178869	3178869	7757	4	G	A	A	39	39	HTT	A	1	1
HNRPDL	9987	broad.mit.edu	36	4	83568277	83568277	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:83568277G>A	uc003hmr.1	-	c.692C>T	c.(691-693)CCT>CTT	p.P231L	HNRPDL_uc003hmq.1_Non-coding_Transcript|HNRPDL_uc003hms.1_Non-coding_Transcript|HNRPDL_uc003hmt.1_Missense_Mutation_p.P231L|HNRPDL_uc003hmu.1_5'Flank|ENOPH1_uc003hmv.1_5'Flank|ENOPH1_uc003hmw.1_5'Flank|ENOPH1_uc003hmx.1_5'Flank	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	231					regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding				0		Hepatocellular(203;0.114)												0.348837	44.810109	45.67804	15	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83568277	83568277	7568	4	G	A	A	35	35	HNRPDL	A	2	2
ODZ2	57451	broad.mit.edu	36	5	167574647	167574647	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167574647C>T	uc010jjd.1	+	c.3843C>T	c.(3841-3843)TAC>TAT	p.Y1281Y	ODZ2_uc003lzr.2_Silent_p.Y1051Y|ODZ2_uc003lzt.2_Silent_p.Y654Y|ODZ2_uc010jje.1_Silent_p.Y545Y	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.325926	130.253549	133.882785	44	91	CC		KEEP	---	---	---	---	capture			Silent	SNP	167574647	167574647	11240	5	C	T	T	20	20	ODZ2	T	2	2
TIAM2	26230	broad.mit.edu	36	6	155619925	155619925	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:155619925C>G	uc003qqb.1	+	c.5084C>G	c.(5083-5085)ACA>AGA	p.T1695R	TIAM2_uc003qqe.1_Missense_Mutation_p.T1695R|TIAM2_uc010kjj.1_Missense_Mutation_p.T1257R|TIAM2_uc003qqf.1_Missense_Mutation_p.T1071R|TIAM2_uc003qqg.1_Missense_Mutation_p.T1007R|TIAM2_uc003qqh.1_Missense_Mutation_p.T620R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1695					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.394737	52.117653	52.486031	15	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155619925	155619925	16419	6	C	G	G	17	17	TIAM2	G	3	3
FKSG83	83954	broad.mit.edu	36	6	27401293	27401293	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27401293C>G	uc010jqt.1	+	c.253C>G	c.(253-255)CCT>GCT	p.P85A	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q7LBC9	Q7LBC9_HUMAN	FKSG83	230						integral to membrane	pheromone receptor activity				0														0.359712	488.033847	495.259652	150	267	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27401293	27401293	6156	6	C	G	G	30	30	FKSG83	G	3	3
DAXX	1616	broad.mit.edu	36	6	33396590	33396590	+	Nonsense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33396590G>A	uc003oec.1	-	c.940C>T	c.(940-942)CAG>TAG	p.Q314*	ZBTB22_uc010juu.1_5'Flank|DAXX_uc003oed.1_Nonsense_Mutation_p.Q314*|DAXX_uc010juw.1_Nonsense_Mutation_p.Q239*	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	314					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)	22										125				0.502703	289.348698	289.349726	93	92	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	33396590	33396590	4410	6	G	A	A	45	45	DAXX	A	5	2
TSGA14	95681	broad.mit.edu	36	7	129827836	129827836	+	Silent	SNP	C	G	G			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129827836C>G	uc003vpz.1	-	c.705G>C	c.(703-705)GCG>GCC	p.A235A	TSGA14_uc003vpy.1_5'UTR|TSGA14_uc010lmf.1_Silent_p.A32A|TSGA14_uc003vqa.1_Silent_p.A235A	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	235	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)													0.184211	32.513705	39.616293	14	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	129827836	129827836	17171	7	C	G	G	23	23	TSGA14	G	3	3
ELMO1	9844	broad.mit.edu	36	7	37265344	37265344	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37265344G>A	uc003tfk.1	-	c.380C>T	c.(379-381)TCT>TTT	p.S127F	ELMO1_uc010kxg.1_Missense_Mutation_p.S127F	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	127					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)	3														0.266667	156.385423	167.461734	60	165	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37265344	37265344	5257	7	G	A	A	33	33	ELMO1	A	2	2
EGFR	1956	broad.mit.edu	36	7	55189316	55189316	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55189316C>T	uc003tqk.1	+	c.866C>T	c.(865-867)GCC>GTC	p.A289V	EGFR_uc003tqh.1_Missense_Mutation_p.A289V|EGFR_uc003tqi.1_Missense_Mutation_p.A289V|EGFR_uc003tqj.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	289	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.V30_R297>G(10)|p.A289D(3)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8	p.A289V(HEC6-Tumor)|p.A289D(HS683-Tumor)|p.A289V(RL952-Tumor)	608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.229885	52.264299	58.078891	20	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55189316	55189316	5156	7	C	T	T	26	26	EGFR	T	2	2
SUN1	23353	broad.mit.edu	36	7	859573	859573	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:859573G>A	uc010ksb.1	+	c.1055G>A	c.(1054-1056)GGT>GAT	p.G352D	SUN1_uc003sjf.1_Missense_Mutation_p.G269D|SUN1_uc003sjg.1_Missense_Mutation_p.G257D|SUN1_uc003sji.1_Missense_Mutation_p.G190D|GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc003sjk.1_De_novo_Start_OutOfFrame	NM_025154	NP_079430	O94901	SUN1_HUMAN	unc-84 homolog A isoform b	379	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0														0.243478	81.14943	88.04145	28	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	859573	859573	15911	7	G	A	A	44	44	SUN1	A	2	2
PEX1	5189	broad.mit.edu	36	7	91969172	91969172	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91969172C>T	uc003uly.1	-	c.2384G>A	c.(2383-2385)CGA>CAA	p.R795Q	PEX1_uc010ley.1_Missense_Mutation_p.R738Q	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	795					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)											0.337812	482.105592	494.242181	176	345	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91969172	91969172	12157	7	C	T	T	31	31	PEX1	T	1	1
C7orf51	222950	broad.mit.edu	36	7	99924139	99924139	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2466-01	TCGA-02-2466-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99924139T>C	uc003uvd.1	+	c.859T>C	c.(859-861)TCC>CCC	p.S287P	C7orf51_uc003uve.1_Missense_Mutation_p.S69P	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	287	Pro-rich.										0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.148148	6.484089	9.691945	4	23	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99924139	99924139	2507	7	T	C	C	50	50	C7orf51	C	4	4
RIMS2	9699	broad.mit.edu	36	8	104967535	104967535	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104967535C>T	uc003yls.2	+	c.866C>T	c.(865-867)TCG>TTG	p.S289L	RIMS2_uc003ylp.2_Missense_Mutation_p.S511L|RIMS2_uc003ylw.2_Missense_Mutation_p.S319L|RIMS2_uc003ylq.2_Missense_Mutation_p.S319L|RIMS2_uc003ylr.2_Missense_Mutation_p.S319L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)						p.S289L(SNU81-Tumor)|p.S289W(NCIH358-Tumor)|p.S289L(MELJUSO-Tumor)	728				0.414414	283.853335	285.274349	92	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	104967535	104967535	13845	8	C	T	T	31	31	RIMS2	T	1	1
CSMD3	114788	broad.mit.edu	36	8	113911132	113911132	+	Silent	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:113911132G>A	uc003ynu.1	-	c.1818C>T	c.(1816-1818)GGC>GGT	p.G606G	CSMD3_uc003ynt.1_Silent_p.G566G|CSMD3_uc003ynv.1_Silent_p.G465G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	606	Extracellular (Potential).|CUB 3.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.2	81.737138	94.709196	31	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	113911132	113911132	4087	8	G	A	A	38	38	CSMD3	A	1	1
GPR172A	79581	broad.mit.edu	36	8	145554824	145554824	+	Silent	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145554824G>A	uc003zcc.1	+	c.864G>A	c.(862-864)GCG>GCA	p.A288A	FBXL6_uc003zbz.1_5'Flank|FBXL6_uc003zca.1_5'Flank|FBXL6_uc003zcb.1_5'Flank|FBXL6_uc010mfx.1_5'Flank|GPR172A_uc003zcd.1_Silent_p.A288A|GPR172A_uc003zce.1_Silent_p.A288A|GPR172A_uc010mfy.1_Silent_p.A288A|GPR172A_uc003zcf.1_Silent_p.A288A	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A	288	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)											0.222222	15.736984	17.652442	6	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	145554824	145554824	6944	8	G	A	A	38	38	GPR172A	A	1	1
DCAF12L2	340578	broad.mit.edu	36	X	125126588	125126588	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125126588G>A	uc004euk.1	-	c.1001C>T	c.(1000-1002)CCG>CTG	p.P334L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	WD repeat domain 40C	334										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.934783	305.12013	319.261209	86	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125126588	125126588	4436	23	G	A	A	39	39	DCAF12L2	A	1	1
IDH3G	3421	broad.mit.edu	36	X	152708917	152708917	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2466-01	TCGA-02-2466-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152708917G>C	uc004fip.1	-	c.160C>G	c.(160-162)CGG>GGG	p.R54G	IDH3G_uc004fio.1_5'UTR|IDH3G_uc004fiq.1_Missense_Mutation_p.R54G|IDH3G_uc010num.1_5'UTR|IDH3G_uc004fir.1_5'UTR|IDH3G_uc004fis.1_5'UTR|IDH3G_uc004fit.1_Missense_Mutation_p.R54G|IDH3G_uc004fiu.2_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	54					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.3125	7.727606	8.254594	5	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152708917	152708917	7798	23	G	C	C	38	38	IDH3G	C	3	3
FAM47B	170062	broad.mit.edu	36	X	34872621	34872621	+	Silent	SNP	C	T	T			TCGA-02-2466-01	TCGA-02-2466-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34872621C>T	uc004ddi.1	+	c.1752C>T	c.(1750-1752)GAC>GAT	p.D584D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	584										ovary(3)|breast(1)	4														0.266458	246.160631	261.858775	85	234	CC		KEEP	---	---	---	---	capture			Silent	SNP	34872621	34872621	5791	23	C	T	T	19	19	FAM47B	T	1	1
UEVLD	55293	broad.mit.edu	36	11	18510469	18510470	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-02-2466-01	TCGA-02-2466-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18510469_18510470delTG	uc001mot.1	-	c.1389_1390delCA	c.(1387-1392)CACAGTfs	p.H463fs	UEVLD_uc001mou.1_3'UTR|UEVLD_uc001mov.1_3'UTR	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	463_464					cellular carbohydrate metabolic process|oxidation-reduction process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0														0.50			38	38				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	18510469	18510470	17491	11	TG	-	-	55	55	UEVLD	-	5	5
IRS2	8660	broad.mit.edu	36	13	109232656	109232656	+	Frame_Shift_Del	DEL	T	-	-			TCGA-02-2466-01	TCGA-02-2466-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109232656_109232656delT	uc001vqv.1	-	c.3746_3746delA	c.(3745-3747)AATfs	p.N1249fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1249					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	5	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			Melanoma(100;613 2409 40847)				156				0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	109232656	109232656	8145	13	T	-	-	52	52	IRS2	-	5	5
COL8A2	1296	broad.mit.edu	36	1	36337184	36337185	+	Frame_Shift_Ins	INS	-	G	G			TCGA-02-2466-01	TCGA-02-2466-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36337184_36337185insG	uc001bzv.1	-	c.684_685insC	c.(682-687)CCCGGCfs	p.P228fs	COL8A2_uc001bzw.1_Frame_Shift_Ins_p.P163fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	228_229	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)												0.38			3	5				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	36337184	36337185	3844	1	-	G	G	23	23	COL8A2	G	5	5
TOP2B	7155	broad.mit.edu	36	3	25629010	25629012	+	In_Frame_Del	DEL	CTT	-	-			TCGA-02-2466-01	TCGA-02-2466-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25629010_25629012delCTT	uc003cdj.2	-	c.3769_3771delAAG	c.(3769-3771)AAGdel	p.K1257del	TOP2B_uc010hff.1_In_Frame_Del_p.K123del	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1262					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|regulation of transcription, DNA-dependent|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5										789				0.43			107	141				---	---	---	---	capture_indel			In_Frame_Del	DEL	25629010	25629012	16908	3	CTT	-	-	24	24	TOP2B	-	5	5
