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
ECHDC3	79746	broad.mit.edu	37	10	11791541	11791541	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11791541G>T	uc001ikw.3	+	c.340G>T	c.(340-342)GAG>TAG	p.E114*	ECHDC3_uc009xix.2_5'UTR	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl Coenzyme A hydratase domain containing 3	114						mitochondrion	catalytic activity				0														0.147059	8.350792	12.421096	5	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11791541	11791541	5082	10	G	T	T	T	429	33	ECHDC3	5	2
MKI67	4288	broad.mit.edu	37	10	129906607	129906607	+	Missense_Mutation	SNP	A	G	G	rs41305024		TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129906607A>G	uc001lke.2	-	c.3497T>C	c.(3496-3498)CTA>CCA	p.L1166P	MKI67_uc001lkf.2_Missense_Mutation_p.L806P|MKI67_uc009yav.1_Missense_Mutation_p.L741P|MKI67_uc009yaw.1_Missense_Mutation_p.L316P	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1166	16 X 122 AA approximate repeats.|2.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.034043	-39.688501	15.87845	8	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129906607	129906607	9988	10	A	G	G	G	195	15	MKI67	4	4
PANK1	53354	broad.mit.edu	37	10	91352984	91352984	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91352984G>A	uc001kgp.1	-	c.1581C>T	c.(1579-1581)GGC>GGT	p.G527G	PANK1_uc001kgn.1_Silent_p.G302G|PANK1_uc001kgo.1_Silent_p.G243G|PANK1_uc009xtu.1_Silent_p.G329G|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	527					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)									0.15873	17.406854	24.403353	10	53	KEEP	---	---	---	---	capture		Silent	SNP	91352984	91352984	11833	10	G	A	A	A	431	34	PANK1	2	2
NPAT	4863	broad.mit.edu	37	11	108044206	108044206	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108044206G>C	uc001pjz.3	-	c.1505C>G	c.(1504-1506)CCT>CGT	p.P502R	NPAT_uc001pka.2_Missense_Mutation_p.P297R	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	502					regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.149254	17.306424	25.213315	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108044206	108044206	10970	11	G	C	C	C	455	35	NPAT	3	3
C11orf52	91894	broad.mit.edu	37	11	111795048	111795048	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111795048A>G	uc001pmh.2	+	c.33_splice	c.e3-2	p.W11_splice	C11orf52_uc001pmi.2_Splice_Site_SNP_p.W11_splice	NM_080659	NP_542390			hypothetical protein LOC91894											ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)										0.206349	32.438746	37.4752	13	50	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	111795048	111795048	1686	11	A	G	G	G	91	7	C11orf52	5	4
RNF169	254225	broad.mit.edu	37	11	74546742	74546742	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74546742G>A	uc001ovl.3	+	c.1094G>A	c.(1093-1095)CGT>CAT	p.R365H	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	365							zinc ion binding			ovary(1)	1														0.041667	-13.523785	8.095468	4	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74546742	74546742	13937	11	G	A	A	A	520	40	RNF169	1	1
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	T	T	rs118093172	by1000genomes	TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106820975C>T	uc001tlp.2	+	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.25	5.918446	6.813042	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106820975	106820975	12657	12	C	T	T	T	364	28	POLR3B	2	2
DENND5B	160518	broad.mit.edu	37	12	31579340	31579340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31579340G>A	uc001rkh.1	-	c.2230C>T	c.(2230-2232)CGA>TGA	p.R744*	DENND5B_uc001rki.1_Nonsense_Mutation_p.R709*|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	709						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.192308	10.960139	13.258796	5	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31579340	31579340	4616	12	G	A	A	A	519	40	DENND5B	5	1
KRT85	3891	broad.mit.edu	37	12	52758819	52758819	+	Missense_Mutation	SNP	C	T	T	rs117820873	by1000genomes	TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52758819C>T	uc001sag.2	-	c.556G>A	c.(556-558)GTG>ATG	p.V186M		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	186	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)										0.163043	26.800573	36.702591	15	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52758819	52758819	8814	12	C	T	T	T	247	19	KRT85	1	1
DCLK1	9201	broad.mit.edu	37	13	36396979	36396979	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36396979T>C	uc001uvf.2	-	c.1441A>G	c.(1441-1443)AAC>GAC	p.N481D	DCLK1_uc001uve.3_Missense_Mutation_p.N174D|DCLK1_uc010teh.1_Missense_Mutation_p.N174D|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	481	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|protein phosphorylation|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(4)|ovary(2)	6		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)						453				0.413793	123.290656	123.85368	36	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36396979	36396979	4462	13	T	C	C	C	793	61	DCLK1	4	4
NEK5	341676	broad.mit.edu	37	13	52676357	52676357	+	Silent	SNP	C	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52676357C>G	uc001vge.2	-	c.681G>C	c.(679-681)GGG>GGC	p.G227G	NEK5_uc001vgf.2_Silent_p.G227G	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	227	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)						495				0.368056	169.2352	171.439779	53	91	KEEP	---	---	---	---	capture		Silent	SNP	52676357	52676357	10726	13	C	G	G	G	223	18	NEK5	3	3
GZMB	3002	broad.mit.edu	37	14	25100277	25100277	+	Silent	SNP	T	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25100277T>C	uc001wps.2	-	c.744A>G	c.(742-744)TAA>TAG	p.*248*	GZMB_uc010ama.2_Silent_p.*236*|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	248					activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)										0.060606	-8.654636	11.489186	6	93	KEEP	---	---	---	---	capture		Silent	SNP	25100277	25100277	7196	14	T	C	C	C	777	60	GZMB	4	4
IL16	3603	broad.mit.edu	37	15	81591732	81591732	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81591732T>G	uc010unp.1	+	c.2191T>G	c.(2191-2193)TCC>GCC	p.S731A	IL16_uc010blq.1_Missense_Mutation_p.S643A|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Missense_Mutation_p.S689A|IL16_uc002bgg.2_Missense_Mutation_p.S689A|IL16_uc002bgi.1_Missense_Mutation_p.S79A|IL16_uc002bgj.2_Missense_Mutation_p.S183A|IL16_uc002bgk.2_5'UTR|IL16_uc002bgl.1_5'UTR|IL16_uc010unq.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	689					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.034247	-45.550789	23.359226	10	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81591732	81591732	7934	15	T	G	G	G	650	50	IL16	4	4
ITGAL	3683	broad.mit.edu	37	16	30515576	30515576	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30515576C>G	uc002dyi.3	+	c.2226C>G	c.(2224-2226)GAC>GAG	p.D742E	ITGAL_uc002dyj.3_Missense_Mutation_p.D659E|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	742	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.096774	3.336579	8.355583	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30515576	30515576	8190	16	C	G	G	G	233	18	ITGAL	3	3
SLC9A5	6553	broad.mit.edu	37	16	67304767	67304767	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67304767T>C	uc002esm.2	+	c.2345T>C	c.(2344-2346)ATT>ACT	p.I782T	SLC9A5_uc010cee.2_Missense_Mutation_p.I487T|SLC9A5_uc010vji.1_Missense_Mutation_p.I286T	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	782					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)										0.45	59.34615	59.433032	18	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67304767	67304767	15214	16	T	C	C	C	676	52	SLC9A5	4	4
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578400G>C	uc002gim.2	-	c.530C>G	c.(529-531)CCC>CGC	p.P177R	TP53_uc002gig.1_Missense_Mutation_p.P177R|TP53_uc002gih.2_Missense_Mutation_p.P177R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P45R|TP53_uc010cng.1_Missense_Mutation_p.P45R|TP53_uc002gii.1_Missense_Mutation_p.P45R|TP53_uc010cnh.1_Missense_Mutation_p.P177R|TP53_uc010cni.1_Missense_Mutation_p.P177R|TP53_uc002gij.2_Missense_Mutation_p.P177R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P84R|TP53_uc002gio.2_Missense_Mutation_p.P45R|TP53_uc010vug.1_Missense_Mutation_p.P138R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	177	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		CP -> FS (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.P177L(17)|p.P177R(14)|p.P177_C182delPHHERC(7)|p.0?(6)|p.C176_R181delCPHHER(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R174fs*3(1)|p.E171fs*61(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R174fs(THP1-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.232558	23.945301	26.749736	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578400	7578400	16923	17	G	C	C	C	559	43	TP53	3	3
ZNF98	148198	broad.mit.edu	37	19	22574640	22574640	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22574640T>A	uc002nqt.2	-	c.1397A>T	c.(1396-1398)GAA>GTA	p.E466V		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	466	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.257143	21.357855	23.229926	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22574640	22574640	18807	19	T	A	A	A	806	62	ZNF98	3	3
PADI4	23569	broad.mit.edu	37	1	17657534	17657534	+	Missense_Mutation	SNP	G	A	A	rs11203366	byFrequency;by1000genomes	TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17657534G>A	uc001baj.2	+	c.163G>A	c.(163-165)GGC>AGC	p.G55S	PADI4_uc009vpc.2_Missense_Mutation_p.G55S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	55					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)									0.09375	1.103583	6.410545	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17657534	17657534	11796	1	G	A	A	A	507	39	PADI4	1	1
ASPM	259266	broad.mit.edu	37	1	197070923	197070923	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197070923G>A	uc001gtu.2	-	c.7458C>T	c.(7456-7458)CTC>CTT	p.L2486L	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.L334L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2486	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.215385	33.21239	38.073408	14	51	KEEP	---	---	---	---	capture		Silent	SNP	197070923	197070923	1075	1	G	A	A	A	574	45	ASPM	2	2
RAP1GAP	5909	broad.mit.edu	37	1	21940126	21940126	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21940126C>G	uc001bev.2	-	c.469G>C	c.(469-471)GCA>CCA	p.A157P	RAP1GAP_uc001bew.2_Missense_Mutation_p.A221P|RAP1GAP_uc001bey.2_Missense_Mutation_p.A157P|RAP1GAP_uc001bex.2_Missense_Mutation_p.A157P	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform b	157					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)										0.08642	4.963071	18.993626	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21940126	21940126	13497	1	C	G	G	G	338	26	RAP1GAP	3	3
GPR137B	7107	broad.mit.edu	37	1	236341874	236341874	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236341874C>T	uc001hxq.2	+	c.625C>T	c.(625-627)CTC>TTC	p.L209F	GPR137B_uc001hxr.1_5'UTR|GPR137B_uc009xge.2_Non-coding_Transcript	NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	209	Helical; (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)											0.042254	-21.275062	10.687845	6	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236341874	236341874	6920	1	C	T	T	T	416	32	GPR137B	2	2
RYR2	6262	broad.mit.edu	37	1	237730043	237730043	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237730043G>T	uc001hyl.1	+	c.3391G>T	c.(3391-3393)GAT>TAT	p.D1131Y		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1131	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.04918	-29.515959	23.166761	12	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237730043	237730043	14249	1	G	T	T	T	429	33	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237947546	237947546	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947546C>T	uc001hyl.1	+	c.12534C>T	c.(12532-12534)AAC>AAT	p.N4178N	RYR2_uc010pya.1_Silent_p.N593N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4178					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.086207	4.504794	34.676412	15	159	KEEP	---	---	---	---	capture		Silent	SNP	237947546	237947546	14249	1	C	T	T	T	246	19	RYR2	1	1
ZNF684	127396	broad.mit.edu	37	1	41007376	41007376	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41007376T>G	uc001cft.1	+	c.232T>G	c.(232-234)TCT>GCT	p.S78A		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)											0.2	11.663136	13.754308	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41007376	41007376	18686	1	T	G	G	G	702	54	ZNF684	4	4
FOXJ3	22887	broad.mit.edu	37	1	42664850	42664850	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42664850G>A	uc001che.2	-	c.682C>T	c.(682-684)CTT>TTT	p.L228F	FOXJ3_uc001chf.2_Missense_Mutation_p.L228F|FOXJ3_uc001chg.2_Missense_Mutation_p.L228F|FOXJ3_uc001chh.1_Missense_Mutation_p.L194F	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	228					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.104839	14.484185	33.735284	13	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42664850	42664850	6259	1	G	A	A	A	455	35	FOXJ3	2	2
MORC3	23515	broad.mit.edu	37	21	37709283	37709283	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37709283A>G	uc002yvi.2	+	c.224A>G	c.(223-225)GAT>GGT	p.D75G		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	75					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2														0.078947	0.594714	7.474863	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37709283	37709283	10094	21	A	G	G	G	156	12	MORC3	4	4
DYRK1A	1859	broad.mit.edu	37	21	38877681	38877681	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:38877681G>A	uc002ywk.2	+	c.1335G>A	c.(1333-1335)ACG>ACA	p.T445T	DYRK1A_uc002ywi.2_Silent_p.T445T|DYRK1A_uc002ywj.2_Silent_p.T436T|DYRK1A_uc002ywl.2_Silent_p.T445T|DYRK1A_uc002ywm.2_Silent_p.T445T|DYRK1A_uc011aei.1_Silent_p.T206T	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	445	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				0.030612	-35.395705	11.922988	6	190	KEEP	---	---	---	---	capture		Silent	SNP	38877681	38877681	5040	21	G	A	A	A	496	39	DYRK1A	1	1
EFCAB6	64800	broad.mit.edu	37	22	44131803	44131803	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44131803C>T	uc003bdy.1	-	c.578G>A	c.(577-579)CGA>CAA	p.R193Q	EFCAB6_uc003bdz.1_Missense_Mutation_p.R41Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.R41Q|EFCAB6_uc011aqa.1_Missense_Mutation_p.R87Q|EFCAB6_uc003bea.1_Missense_Mutation_p.R190Q|EFCAB6_uc003beb.3_Missense_Mutation_p.R87Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	193	EF-hand 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.035088	-28.092244	11.987481	6	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44131803	44131803	5126	22	C	T	T	T	403	31	EFCAB6	1	1
TTN	7273	broad.mit.edu	37	2	179547565	179547565	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179547565G>A	uc010zfg.1	-	c.29221C>T	c.(29221-29223)CGG>TGG	p.R9741W	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6402W|TTN_uc010fre.1_Missense_Mutation_p.R588W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	437										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.144928	16.603375	24.974352	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179547565	179547565	17290	2	G	A	A	A	519	40	TTN	1	1
KIAA1486	57624	broad.mit.edu	37	2	226378339	226378339	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:226378339C>T	uc002voe.2	+	c.474C>T	c.(472-474)GTC>GTT	p.V158V	KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	158										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)										0.088889	1.663999	9.34853	4	41	KEEP	---	---	---	---	capture		Silent	SNP	226378339	226378339	8546	2	C	T	T	T	366	29	KIAA1486	2	2
ALCAM	214	broad.mit.edu	37	3	105243204	105243204	+	Silent	SNP	T	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:105243204T>C	uc003dvx.2	+	c.246T>C	c.(244-246)GAT>GAC	p.D82D	ALCAM_uc003dvv.2_Silent_p.D82D|ALCAM_uc003dvw.1_Silent_p.D82D|ALCAM_uc003dvy.2_Silent_p.D82D|ALCAM_uc011bhh.1_Silent_p.D31D	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	82	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3														0.043956	-12.155405	8.089767	4	87	KEEP	---	---	---	---	capture		Silent	SNP	105243204	105243204	490	3	T	C	C	C	660	51	ALCAM	4	4
ANK2	287	broad.mit.edu	37	4	114179205	114179205	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114179205G>C	uc003ibe.3	+	c.1189_splice	c.e12-1	p.N397_splice	ANK2_uc003ibd.3_Splice_Site_SNP_p.N376_splice|ANK2_uc003ibf.3_Splice_Site_SNP_p.N397_splice|ANK2_uc003ibc.2_Splice_Site_SNP_p.N373_splice|ANK2_uc011cgb.1_Splice_Site_SNP_p.N412_splice	NM_001148	NP_001139			ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.202899	34.607681	40.266522	14	55	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	114179205	114179205	624	4	G	C	C	C	429	33	ANK2	5	3
GRIA1	2890	broad.mit.edu	37	5	153190618	153190618	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153190618G>T	uc011dcy.1	+	c.2584G>T	c.(2584-2586)GAA>TAA	p.E862*	GRIA1_uc003lva.3_Nonsense_Mutation_p.E852*|GRIA1_uc003luy.3_Nonsense_Mutation_p.E852*|GRIA1_uc003luz.3_Nonsense_Mutation_p.E757*|GRIA1_uc011dcv.1_Non-coding_Transcript|GRIA1_uc011dcw.1_Nonsense_Mutation_p.E772*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.E783*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.E862*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	852	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.072727	-2.473058	18.173405	8	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153190618	153190618	7045	5	G	T	T	T	481	37	GRIA1	5	1
ATP10B	23120	broad.mit.edu	37	5	160047777	160047777	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160047777C>T	uc003lym.1	-	c.1993G>A	c.(1993-1995)GAT>AAT	p.D665N	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.D223N	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	665	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.050847	-20.281975	17.564682	9	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160047777	160047777	1136	5	C	T	T	T	377	29	ATP10B	2	2
ATP10B	23120	broad.mit.edu	37	5	160047784	160047784	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160047784C>T	uc003lym.1	-	c.1986G>A	c.(1984-1986)GAG>GAA	p.E662E	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.E220E	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	662	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.052632	-19.60507	20.571356	10	180	KEEP	---	---	---	---	capture		Silent	SNP	160047784	160047784	1136	5	C	T	T	T	415	32	ATP10B	2	2
EIF4E1B	253314	broad.mit.edu	37	5	176072396	176072396	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176072396G>T	uc010jkf.1	+	c.493G>T	c.(493-495)GAG>TAG	p.E165*	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	165					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.294118	23.132957	24.425211	10	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	176072396	176072396	5220	5	G	T	T	T	533	41	EIF4E1B	5	2
PRDM9	56979	broad.mit.edu	37	5	23521181	23521181	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23521181C>A	uc003jgo.2	+	c.401C>A	c.(400-402)TCA>TAA	p.S134*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	134					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.075	-1.002534	6.407135	3	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23521181	23521181	12906	5	C	A	A	A	377	29	PRDM9	5	2
PRDM9	56979	broad.mit.edu	37	5	23524611	23524611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23524611G>A	uc003jgo.2	+	c.1119G>A	c.(1117-1119)TGG>TGA	p.W373*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	373					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.262295	43.491466	46.597176	16	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23524611	23524611	12906	5	G	A	A	A	533	41	PRDM9	5	2
ADAMTS12	81792	broad.mit.edu	37	5	33684038	33684038	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33684038C>T	uc003jia.1	-	c.757G>A	c.(757-759)GTG>ATG	p.V253M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V253M	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	253	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.091603	4.44276	26.418384	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33684038	33684038	258	5	C	T	T	T	234	18	ADAMTS12	2	2
CARD6	84674	broad.mit.edu	37	5	40852576	40852576	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40852576C>T	uc003jmg.2	+	c.1142C>T	c.(1141-1143)GCC>GTC	p.A381V		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	381					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.06	-3.770567	6.309163	3	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40852576	40852576	2769	5	C	T	T	T	338	26	CARD6	2	2
ECT2L	345930	broad.mit.edu	37	6	139203925	139203925	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139203925A>C	uc003qif.1	+	c.1945A>C	c.(1945-1947)ATA>CTA	p.I649L	ECT2L_uc011edq.1_Missense_Mutation_p.I580L	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	649	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.136364	5.915496	8.727145	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139203925	139203925	5089	6	A	C	C	C	52	4	ECT2L	4	4
ATXN1	6310	broad.mit.edu	37	6	16326626	16326626	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:16326626T>C	uc003nbt.2	-	c.1916A>G	c.(1915-1917)CAG>CGG	p.Q639R	ATXN1_uc010jpi.2_Missense_Mutation_p.Q639R|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	639	Interaction with USP7.|RNA-binding.|AXH.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association|transcription repressor activity			central_nervous_system(1)	1	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)												0.166667	9.8574	13.017018	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16326626	16326626	1228	6	T	C	C	C	715	55	ATXN1	4	4
ZNF165	7718	broad.mit.edu	37	6	28056794	28056794	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28056794C>T	uc003nkg.2	+	c.1004C>T	c.(1003-1005)GCA>GTA	p.A335V	ZNF165_uc003nkh.2_Missense_Mutation_p.A335V|ZNF165_uc003nki.3_Missense_Mutation_p.A335V|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	335					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.122807	8.11846	16.028361	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28056794	28056794	18331	6	C	T	T	T	325	25	ZNF165	2	2
C6orf138	442213	broad.mit.edu	37	6	47846567	47846567	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846567C>T	uc011dwm.1	-	c.1962G>A	c.(1960-1962)GTG>GTA	p.V654V	C6orf138_uc011dwn.1_Silent_p.V418V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	671	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.067669	-6.600557	19.106103	9	124	KEEP	---	---	---	---	capture		Silent	SNP	47846567	47846567	2435	6	C	T	T	T	210	17	C6orf138	2	2
COL21A1	81578	broad.mit.edu	37	6	55924943	55924943	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55924943C>T	uc003pcs.2	-	c.2481G>A	c.(2479-2481)CCG>CCA	p.P827P	COL21A1_uc010jzz.2_Silent_p.P212P|COL21A1_uc011dxg.1_Silent_p.P200P|COL21A1_uc011dxh.1_Intron|COL21A1_uc003pcr.2_Silent_p.P184P	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	827	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.253333	45.496818	49.572426	19	56	KEEP	---	---	---	---	capture		Silent	SNP	55924943	55924943	3818	6	C	T	T	T	288	23	COL21A1	1	1
KLHL32	114792	broad.mit.edu	37	6	97533208	97533208	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97533208G>A	uc010kcm.1	+	c.618G>A	c.(616-618)CAG>CAA	p.Q206Q	KLHL32_uc003poy.2_Silent_p.Q206Q|KLHL32_uc011ead.1_Silent_p.Q170Q|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.Q137Q|KLHL32_uc003ppa.2_Non-coding_Transcript	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	206										ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)										0.049383	-9.162929	8.294894	4	77	KEEP	---	---	---	---	capture		Silent	SNP	97533208	97533208	8699	6	G	A	A	A	425	33	KLHL32	2	2
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55259524T>G	uc003tqk.2	+	c.2582T>G	c.(2581-2583)CTG>CGG	p.L861R	EGFR_uc010kzg.1_Missense_Mutation_p.L816R|EGFR_uc011kco.1_Missense_Mutation_p.L808R	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	861	Cytoplasmic (Potential).|Protein kinase.		L -> Q (found in a lung cancer sample).		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.L861Q(77)|p.L861R(9)|p.A859_L883>V(2)|p.L861F(1)|p.L861P(1)		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		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.285714	209.239399	219.914743	74	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55259524	55259524	5156	7	T	G	G	G	715	55	EGFR	4	4
EIF2AK1	27102	broad.mit.edu	37	7	6094284	6094284	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6094284G>A	uc003spp.2	-	c.170C>T	c.(169-171)CCA>CTA	p.P57L	EIF2AK1_uc003spq.2_Missense_Mutation_p.P57L|EIF2AK1_uc011jwm.1_5'UTR	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	57					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)						253				0.135135	9.74844	14.522475	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6094284	6094284	5185	7	G	A	A	A	611	47	EIF2AK1	2	2
ABCB4	5244	broad.mit.edu	37	7	87073039	87073039	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87073039G>C	uc003uiv.1	-	c.1170C>G	c.(1168-1170)ATC>ATG	p.I390M	ABCB4_uc003uiw.1_Missense_Mutation_p.I390M|ABCB4_uc003uix.1_Missense_Mutation_p.I390M	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	390	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.185185	12.458449	14.967442	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87073039	87073039	44	7	G	C	C	C	577	45	ABCB4	3	3
COL1A2	1278	broad.mit.edu	37	7	94040249	94040249	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94040249G>A	uc003ung.1	+	c.1246G>A	c.(1246-1248)GTC>ATC	p.V416I	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	416					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.235294	39.274091	43.625753	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94040249	94040249	3816	7	G	A	A	A	520	40	COL1A2	1	1
PXDNL	137902	broad.mit.edu	37	8	52366163	52366163	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52366163T>G	uc003xqu.3	-	c.1165A>C	c.(1165-1167)ACA>CCA	p.T389P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	389	Ig-like C2-type 2.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.176471	34.582797	42.959187	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52366163	52366163	13306	8	T	G	G	G	767	59	PXDNL	4	4
MATN2	4147	broad.mit.edu	37	8	99019450	99019450	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99019450G>T	uc003yic.2	+	c.1445G>T	c.(1444-1446)TGC>TTC	p.C482F	MATN2_uc010mbh.1_Missense_Mutation_p.C441F|MATN2_uc003yid.2_Missense_Mutation_p.C482F|MATN2_uc003yie.1_Missense_Mutation_p.C482F|MATN2_uc010mbi.1_Missense_Mutation_p.C315F|MATN2_uc010mbj.1_5'Flank	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	482	EGF-like 6.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)											0.213333	37.659093	43.352791	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99019450	99019450	9718	8	G	T	T	T	598	46	MATN2	2	2
GABBR2	9568	broad.mit.edu	37	9	101235628	101235628	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101235628C>T	uc004ays.2	-	c.799G>A	c.(799-801)GCA>ACA	p.A267T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	267	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.2	15.405059	18.334844	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101235628	101235628	6407	9	C	T	T	T	338	26	GABBR2	2	2
ZNF462	58499	broad.mit.edu	37	9	109688044	109688044	+	Silent	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109688044C>T	uc004bcz.2	+	c.1851C>T	c.(1849-1851)GTC>GTT	p.V617V	ZNF462_uc010mto.2_Silent_p.V465V|ZNF462_uc004bda.2_Silent_p.V465V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	617	C2H2-type 6.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.10536	46.214761	129.938701	57	484	KEEP	---	---	---	---	capture		Silent	SNP	109688044	109688044	18519	9	C	T	T	T	379	30	ZNF462	2	2
KIAA2026	158358	broad.mit.edu	37	9	5920905	5920905	+	Silent	SNP	A	G	G			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5920905A>G	uc003zjq.3	-	c.5091T>C	c.(5089-5091)AAT>AAC	p.N1697N	KIAA2026_uc010mht.2_Silent_p.N872N	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1697										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.046154	-14.155475	14.407368	6	124	KEEP	---	---	---	---	capture		Silent	SNP	5920905	5920905	8581	9	A	G	G	G	206	16	KIAA2026	4	4
ARHGAP6	395	broad.mit.edu	37	X	11206878	11206878	+	Silent	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11206878G>T	uc004cup.1	-	c.1047C>A	c.(1045-1047)ACC>ACA	p.T349T	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.T349T|ARHGAP6_uc004cum.1_Silent_p.T146T|ARHGAP6_uc004cun.1_Silent_p.T169T|ARHGAP6_uc010neb.1_Silent_p.T171T|ARHGAP6_uc011mif.1_Silent_p.T146T	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	349	SH3-binding.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2														0.056338	-15.371738	13.995139	8	134	KEEP	---	---	---	---	capture		Silent	SNP	11206878	11206878	901	23	G	T	T	T	548	43	ARHGAP6	2	2
HS6ST2	90161	broad.mit.edu	37	X	132091282	132091282	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132091282G>A	uc011mvd.1	-	c.501C>T	c.(499-501)ATC>ATT	p.I167I	HS6ST2_uc011mvb.1_Silent_p.I21I|HS6ST2_uc011mvc.1_Silent_p.I21I|HS6ST2_uc011mve.1_Silent_p.I167I	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	167	Lumenal (Potential).				carbohydrate biosynthetic process	integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.081633	0.263881	8.995217	4	45	KEEP	---	---	---	---	capture		Silent	SNP	132091282	132091282	7665	23	G	A	A	A	473	37	HS6ST2	1	1
MAGEC2	51438	broad.mit.edu	37	X	141291764	141291764	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291764C>T	uc004fbu.1	-	c.10G>A	c.(10-12)GTT>ATT	p.V4I		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	4						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.060367	-29.760606	47.102272	23	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291764	141291764	9562	23	C	T	T	T	247	19	MAGEC2	1	1
CNKSR2	22866	broad.mit.edu	37	X	21613488	21613488	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21613488G>A	uc004czx.1	+	c.1951G>A	c.(1951-1953)GCT>ACT	p.A651T	CNKSR2_uc004czw.2_Missense_Mutation_p.A651T|CNKSR2_uc011mjn.1_Missense_Mutation_p.A602T|CNKSR2_uc011mjo.1_Missense_Mutation_p.A621T|CNKSR2_uc004czy.2_Missense_Mutation_p.A243T	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	651	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.269231	53.639022	57.388517	21	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21613488	21613488	3745	23	G	A	A	A	598	46	CNKSR2	2	2
FAM47A	158724	broad.mit.edu	37	X	34150189	34150189	+	Silent	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34150189G>A	uc004ddg.2	-	c.207C>T	c.(205-207)CTC>CTT	p.L69L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	69										ovary(4)|central_nervous_system(1)	5														0.105263	15.217571	38.735055	16	136	KEEP	---	---	---	---	capture		Silent	SNP	34150189	34150189	5790	23	G	A	A	A	470	37	FAM47A	1	1
FAM47A	158724	broad.mit.edu	37	X	34150191	34150191	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34150191G>C	uc004ddg.2	-	c.205C>G	c.(205-207)CTC>GTC	p.L69V		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	69										ovary(4)|central_nervous_system(1)	5														0.115646	23.567283	44.951427	17	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34150191	34150191	5790	23	G	C	C	C	429	33	FAM47A	3	3
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50659489G>A	uc011mnw.1	+	c.1061G>A	c.(1060-1062)CGG>CAG	p.R354Q		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)													0.045455	-13.412456	10.858389	5	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50659489	50659489	1483	23	G	A	A	A	507	39	BMP15	1	1
AR	367	broad.mit.edu	37	X	66863125	66863125	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:66863125G>T	uc004dwu.1	+	c.1644G>T	c.(1642-1644)TTG>TTT	p.L548F	AR_uc011mpd.1_Missense_Mutation_p.L548F|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.L548F|AR_uc004dwv.1_Missense_Mutation_p.L16F	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	547	Modulating.		L -> F (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|promoter binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)					177				0.121212	13.531639	27.457235	12	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66863125	66863125	847	23	G	T	T	T	594	46	AR	2	2
MYBPC3	4607	broad.mit.edu	37	11	47356642	47356644	+	In_Frame_Del	DEL	AGG	-	-			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47356642_47356644delAGG	uc001nfa.3	-	c.2854_2856delCCT	c.(2854-2856)CCTdel	p.P952del		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	951	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)										0.35			6	11		---	---	---	---	capture_indel		In_Frame_Del	DEL	47356642	47356644	10408	11	AGG	-	-	-	80	7	MYBPC3	5	5
MICAL3	57553	broad.mit.edu	37	22	18314652	18314654	+	In_Frame_Del	DEL	TCC	-	-			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18314652_18314654delTCC	uc002zng.3	-	c.3021_3023delGGA	c.(3019-3024)GAGGAC>GAC	p.E1007del	MICAL3_uc011agl.1_In_Frame_Del_p.E1007del	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1007	Glu-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	18314652	18314654	9961	22	TCC	-	-	-	754	58	MICAL3	5	5
ZXDA	7789	broad.mit.edu	37	X	57936624	57936624	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z035-01	TCGA-17-Z035-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:57936624_57936624delC	uc004dve.2	-	c.231_231delG	c.(229-231)AGGfs	p.R77fs		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	77					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	57936624	57936624	18855	23	C	-	-	-	337	26	ZXDA	5	5
