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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
CHD5	26038	broad.mit.edu	37	1	6194862	6194862	+	Silent	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:6194862G>A	uc001amb.1	-	19	3028	c.2928C>T	c.(2926-2928)GGC>GGT	p.G976G	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	976					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTTCCCGCCCCCCTTGG	0.582000												
RPL22	6146	broad.mit.edu	37	1	6253081	6253081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:6253081C>T	uc001amd.2	-	3	197	c.151G>A	c.(151-153)GGA>AGA	p.G51R	RPL22_uc001ame.2_Missense_Mutation_p.G51R	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCAGCTTTTCCGTTCACTTTG	0.443000			T	RUNX1	AML|CML							
C1orf173	127254	broad.mit.edu	37	1	75072545	75072545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:75072545G>A	uc001dgg.2	-	10	1448	c.1229C>T	c.(1228-1230)CCG>CTG	p.P410L	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P204L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	410										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCTAGATTTCGGCAAAGACGG	0.408000												
PAPPA2	60676	broad.mit.edu	37	1	176769239	176769239	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:176769239G>A	uc001gkz.2	+	21	6337	c.5173G>A	c.(5173-5175)GTC>ATC	p.V1725I	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1725	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCCAGACCCCGTCTTAGTCCA	0.478000												
CR1	1378	broad.mit.edu	37	1	207753744	207753744	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:207753744A>C	uc001hfy.2	+	22	3886	c.3746A>C	c.(3745-3747)GAA>GCA	p.E1249A	CR1_uc009xcl.1_Missense_Mutation_p.E799A|CR1_uc001hfx.2_Missense_Mutation_p.E1699A	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1249	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGGAGCCCTGAAGCCCCGAGA	0.507000												
SEMA4G	57715	broad.mit.edu	37	10	102737410	102737410	+	Missense_Mutation	SNP	C	C	T	rs145690277		TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr10:102737410C>T	uc010qpt.1	+	5	801	c.358C>T	c.(358-360)CGG>TGG	p.R120W	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R120W|SEMA4G_uc001krx.2_Missense_Mutation_p.R120W	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	120	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TAACCATGTGCGGTTCCTGCA	0.527000												
ZP1	22917	broad.mit.edu	37	11	60640735	60640735	+	Silent	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr11:60640735C>T	uc001nqd.2	+	7	1233	c.1213C>T	c.(1213-1215)CTG>TTG	p.L405L	ZP1_uc001nqe.2_Silent_p.L112L	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	405	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GCCCGGCCCCCTGCGGCTTGA	0.602000												
KRT86	3892	broad.mit.edu	37	12	52695729	52695729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr12:52695729G>A	uc010snq.1	+	2	162	c.29G>A	c.(28-30)CGC>CAC	p.R10H	KRT86_uc009zmg.2_Missense_Mutation_p.R10H|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R10H	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	10	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGTGGCCGCGCCTTCAGC	0.662000												
PLXNC1	10154	broad.mit.edu	37	12	94642052	94642052	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr12:94642052T>C	uc001tdc.2	+	14	2891	c.2642T>C	c.(2641-2643)CTC>CCC	p.L881P		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	881	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAATTACTCTCTTCCATGGG	0.323000												
ATP12A	479	broad.mit.edu	37	13	25274960	25274960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr13:25274960C>T	uc001upp.2	+	13	1968	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	ATP12A_uc010aaa.2_Missense_Mutation_p.P600L	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	594	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAACTTTCCGACCTCCAAC	0.488000												
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr14:20248864G>A	uc010tku.1	+	1	383	c.383G>A	c.(382-384)CGA>CAA	p.R128Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512000												
CTCF	10664	broad.mit.edu	37	16	67650711	67650711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:67650711G>A	uc002etl.2	+	5	1306	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	CTCF_uc010cek.2_Missense_Mutation_p.R11Q	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	339	C2H2-type 3.		R -> W (in a Wilms' tumor).		chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAATTGGTTCGGCATCGTCGT	0.483000												
CDH1	999	broad.mit.edu	37	16	68842633	68842633	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:68842633A>G	uc002ewg.1	+	5	693	c.569A>G	c.(568-570)TAC>TGC	p.Y190C	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.Y190C	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	190	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAGGTTTTCTACAGCATCACT	0.423000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
MYH10	4628	broad.mit.edu	37	17	8424505	8424505	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr17:8424505G>T	uc002gll.2	-	16	2059	c.1963C>A	c.(1963-1965)CAA>AAA	p.Q655K	MYH10_uc002glm.2_Missense_Mutation_p.Q686K|MYH10_uc010cnx.2_Missense_Mutation_p.Q664K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	655	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTGTAGAGTTGCCCAACGGTA	0.473000												
GPR179	440435	broad.mit.edu	37	17	36499035	36499035	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr17:36499035T>C	uc002hpz.2	-	1	659	c.638A>G	c.(637-639)AAG>AGG	p.K213R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	213	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCGGCCACTTGGGGCTGCC	0.637000												
ZNF536	9745	broad.mit.edu	37	19	30935607	30935607	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr19:30935607C>T	uc002nsu.1	+	2	1276	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	ZNF536_uc010edd.1_Missense_Mutation_p.R380W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	380	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GATCTGCGGCCGGCGCTTCAA	0.597000												
NLRP5	126206	broad.mit.edu	37	19	56565060	56565060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr19:56565060C>T	uc002qmj.2	+	13	3185	c.3185C>T	c.(3184-3186)TCG>TTG	p.S1062L	NLRP5_uc002qmi.2_Missense_Mutation_p.S1043L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1062						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGTGATCTCGAGGAGCAGA	0.567000												
POTEE	445582	broad.mit.edu	37	2	132021446	132021446	+	Silent	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:132021446C>T	uc002tsn.2	+	15	2470	c.2418C>T	c.(2416-2418)ACC>ACT	p.T806T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T406T|POTEE_uc002tsl.2_Silent_p.T388T|POTEE_uc010fmy.1_Silent_p.T270T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	806	Actin-like.						ATP binding				0						TCCTGCTGACCGAGGCCCCCC	0.597000												
TTN	7273	broad.mit.edu	37	2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:179640850G>A	uc010zfg.1	-	28	5965	c.5741C>T	c.(5740-5742)GCG>GTG	p.A1914V	TTN_uc010zfh.1_Missense_Mutation_p.A1868V|TTN_uc010zfi.1_Missense_Mutation_p.A1868V|TTN_uc010zfj.1_Missense_Mutation_p.A1868V|TTN_uc002unb.2_Missense_Mutation_p.A1914V|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1914							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1914V(2)|p.A1868V(1)		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)			AGGATTTTCCGCGGTGACCTT	0.458000												
DNAH7	56171	broad.mit.edu	37	2	196689076	196689076	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr2:196689076C>T	uc002utj.3	-	49	9295	c.9194G>A	c.(9193-9195)CGG>CAG	p.R3065Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3065	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GTCCCCAAGCCGGATACATGT	0.413000												
XKR7	343702	broad.mit.edu	37	20	30585193	30585193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:30585193C>T	uc002wxe.2	+	3	1847	c.1673C>T	c.(1672-1674)ACG>ATG	p.T558M		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	558						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCACCTGCCACGCCCCGGTTG	0.582000												
SLC32A1	140679	broad.mit.edu	37	20	37356775	37356775	+	Silent	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:37356775C>T	uc002xjc.2	+	2	1334	c.1071C>T	c.(1069-1071)GTC>GTT	p.V357V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	357	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCGCGCTCGTCGCCTACCTCA	0.627000												
MC3R	4159	broad.mit.edu	37	20	54824440	54824440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr20:54824440G>A	uc002xxb.2	+	1	653	c.541G>A	c.(541-543)GTC>ATC	p.V181I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	218	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.V218I(1)		ovary(2)|breast(2)	4			Colorectal(105;0.202)			GGTGTTCATCGTCTACTCGGA	0.562000												
GRIK1	2897	broad.mit.edu	37	21	30949440	30949440	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr21:30949440G>T	uc002yno.1	-	14	2438	c.1974C>A	c.(1972-1974)TTC>TTA	p.F658L	GRIK1_uc002ynn.2_Missense_Mutation_p.F643L|GRIK1_uc011acs.1_Missense_Mutation_p.F658L|GRIK1_uc011act.1_Missense_Mutation_p.F519L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	658	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGATTAGGGTGAAAAACCACC	0.463000												
C3orf20	84077	broad.mit.edu	37	3	14744671	14744671	+	Silent	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr3:14744671G>A	uc003byy.2	+	6	1184	c.780G>A	c.(778-780)CCG>CCA	p.P260P	C3orf20_uc003byz.2_Silent_p.P138P|C3orf20_uc003bza.2_Silent_p.P138P|C3orf20_uc003byx.1_Silent_p.P260P	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	260						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TCAGCATGCCGCCCCTGCATC	0.463000												
MTMR12	54545	broad.mit.edu	37	5	32239240	32239240	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr5:32239240A>C	uc003jhq.2	-	13	1381	c.1211T>G	c.(1210-1212)CTG>CGG	p.L404R	MTMR12_uc010iuk.2_Missense_Mutation_p.L404R|MTMR12_uc010iul.2_Missense_Mutation_p.L404R	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	404	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1						CAGTTGCACCAGAGAGGAAAT	0.512000												
CMYA5	202333	broad.mit.edu	37	5	79025999	79025999	+	Missense_Mutation	SNP	G	G	A	rs114134827	by1000genomes	TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr5:79025999G>A	uc003kgc.2	+	2	1483	c.1411G>A	c.(1411-1413)GCA>ACA	p.A471T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	471						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCAGTCTCCGCAAAACTGAC	0.512000												
TNXB	7148	broad.mit.edu	37	6	32052314	32052314	+	Silent	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr6:32052314G>A	uc003nzl.2	-	8	3523	c.3321C>T	c.(3319-3321)CCC>CCT	p.P1107P		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1194	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTCCTTCCACGGGCACCACCT	0.612000												
ADRA1A	148	broad.mit.edu	37	8	26722428	26722428	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:26722428G>A	uc003xfh.1	-	1	495	c.59C>T	c.(58-60)CCG>CTG	p.P20L	ADRA1A_uc003xfc.1_Missense_Mutation_p.P20L|ADRA1A_uc010lul.1_Missense_Mutation_p.P20L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.P20L|ADRA1A_uc010lum.1_Missense_Mutation_p.P20L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.P20L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	20	Extracellular (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AATGTTCACCGGTGCCGGCGG	0.617000												
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:43197470C>A	uc003xpz.1	+	11	1402	c.1359C>A	c.(1357-1359)AAC>AAA	p.N453K	POTEA_uc003xqa.1_Missense_Mutation_p.N407K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	453										ovary(1)	1						TGGATTTTAACGGTAGGACCA	0.373000												
PLAG1	5324	broad.mit.edu	37	8	57079229	57079229	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:57079229T>C	uc003xsq.3	-	3	1527	c.1076A>G	c.(1075-1077)TAC>TGC	p.Y359C	PLAG1_uc003xsr.3_Missense_Mutation_p.Y359C|PLAG1_uc010lyi.2_Missense_Mutation_p.Y359C|PLAG1_uc010lyj.2_Missense_Mutation_p.Y277C	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	359	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTCCATCAGGTAACTCTCAAT	0.443000			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
CHD7	55636	broad.mit.edu	37	8	61654739	61654739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:61654739C>T	uc003xue.2	+	2	1225	c.748C>T	c.(748-750)CGT>TGT	p.R250C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	250					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTTCCTTGCGTCACTCGGT	0.582000												
COL22A1	169044	broad.mit.edu	37	8	139737660	139737660	+	Silent	SNP	G	G	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr8:139737660G>T	uc003yvd.2	-	24	2610	c.2163C>A	c.(2161-2163)GTC>GTA	p.V721V	COL22A1_uc011ljo.1_Silent_p.V21V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	721	Collagen-like 5.|Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.V721A(1)		ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCCTGGGACACCAGGGG	0.587000										HNSCC(7;0.00092)		
REPS2	9185	broad.mit.edu	37	X	17153511	17153511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:17153511C>T	uc004cxv.1	+	16	1961	c.1790C>T	c.(1789-1791)CCG>CTG	p.P597L	REPS2_uc004cxw.1_Missense_Mutation_p.P596L|REPS2_uc011miw.1_Missense_Mutation_p.P395L	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ACCATGAAACCGCATCCAACA	0.463000												
TSPAN7	7102	broad.mit.edu	37	X	38420808	38420808	+	Silent	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:38420808G>A	uc004deg.3	+	1	78	c.9G>A	c.(7-9)TCG>TCA	p.S3S	TSPAN7_uc011mkj.1_5'UTR|TSPAN7_uc011mkk.1_Silent_p.S3S	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	3	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GTATGGCATCGAGGAGAATGG	0.428000												
PAK3	5063	broad.mit.edu	37	X	110406248	110406248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:110406248G>A	uc004epa.2	+	6	646	c.619G>A	c.(619-621)GCA>ACA	p.A207T	PAK3_uc010npt.1_Missense_Mutation_p.A192T|PAK3_uc010npu.1_Missense_Mutation_p.A192T|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.A192T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.A228T|PAK3_uc010npw.1_Missense_Mutation_p.A213T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	207	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						ACCAGTTATCGCACCAAGACC	0.333000										TSP Lung(19;0.15)		
NKAP	79576	broad.mit.edu	37	X	119077495	119077495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:119077495G>A	uc004esh.2	-	1	241	c.74C>T	c.(73-75)TCG>TTG	p.S25L		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	25	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						CGGACTCTTCGACGAACTGCG	0.701000												
ODZ1	10178	broad.mit.edu	37	X	123525997	123525997	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:123525997T>C	uc004euj.2	-	27	5636	c.5572A>G	c.(5572-5574)ACG>GCG	p.T1858A	ODZ1_uc011muj.1_Missense_Mutation_p.T1864A|ODZ1_uc010nqy.2_Missense_Mutation_p.T1865A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1858	Extracellular (Potential).|YD 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCATTCCACGTTCCTCTTTGA	0.403000												
ZC3H11A	9877	broad.mit.edu	37	1	203797521	203797521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr1:203797521delT	uc001hac.2	+	7	885	c.269delT	c.(268-270)GTTfs	p.V90fs	ZC3H11A_uc001had.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001hae.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc001haf.2_Frame_Shift_Del_p.V90fs|ZC3H11A_uc010pqm.1_Frame_Shift_Del_p.V36fs|ZC3H11A_uc001hag.1_Frame_Shift_Del_p.V90fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	90							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACGATATGTTGATGGCCTT	0.289												
CHTF18	63922	broad.mit.edu	37	16	839270	839270	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr16:839270delA	uc002cke.3	+	3	410	c.347delA	c.(346-348)GAGfs	p.E116fs	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Frame_Shift_Del_p.E116fs|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Frame_Shift_Del_p.E144fs|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	116					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				AGATCGGAGGAGATGGAGGAG	0.667												
ALG13	79868	broad.mit.edu	37	X	110952207	110952207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chrX:110952207delG	uc011msy.1	+	5	799	c.765delG	c.(763-765)CAGfs	p.Q255fs	ALG13_uc011msw.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011msx.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011msz.1_Frame_Shift_Del_p.Q177fs|ALG13_uc011mta.1_Frame_Shift_Del_p.Q151fs|ALG13_uc011mtb.1_Frame_Shift_Del_p.Q151fs			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	255	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TTTGCAGCCAGGTCCATCATT	0.393												
TECPR2	9895	broad.mit.edu	37	14	102904453	102904469	+	Frame_Shift_Del	DEL	GCGGCCTGTTCTGCAGC	GCGGCCTGTTCTGCAGC	-	rs12890730		TCGA-BR-8592-01A-11D-2394-08	TCGA-BR-8592-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58bdfe8b-b1ef-4d25-b404-c3211aa52c43	eb178e61-6b4e-4662-be78-c8a53a87abe4	g.chr14:102904452_102904468GGCGGCCTGTTCTGCAGC>G	uc001ylw.2	+	9	2714_2730	c.2488_2504GGCGGCCTGTTCTGCAGC>G	c.(2488-2505)ggcggcctgttctgcagcfs	p.G830fs	TECPR2_uc010awl.3_Frame_Shift_Del_p.G830fs|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	830							protein binding	p.L832L(2)|p.G830G(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACTACAAAGGCGGCCTGTTCTGCAGCGCGTTGCCG	0.618											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
