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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BPHL	670	broad.mit.edu	37	6	3137663	3137663	+	Silent	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr6:3137663C>T	uc003mva.3	+	4	649	c.600C>T	c.(598-600)gaC>gaT	p.D200D	BPHL_uc003muz.3_Intron|BPHL_uc011dht.2_Intron|BPHL_uc003muy.3_Silent_p.D183D	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	200					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				ATGGGTATGACTACTTTGCCA	0.458000													47	65					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31414858	31414858	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:31414858A>C	uc010cap.1	+	6	645	c.596A>C	c.(595-597)cAc>cCc	p.H199P	ITGAD_uc010vfl.1_Missense_Mutation_p.H199P|ITGAD_uc002ebv.1_Missense_Mutation_p.H199P|ITGAD_uc002ebw.1_Missense_Mutation_p.H10P	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	199	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGAAGATCCACTTCACCTTC	0.542000													26	27					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38005993	38005993	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:38005993C>G	uc001cbi.3	-	2	764	c.691G>C	c.(691-693)Gca>Cca	p.A231P	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	231					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCAAGAAGTGCCCCAGAAAGT	0.502000													55	47					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515282	102515282	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:102515282G>A	uc002cdi.3	+	8	1926	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GAGTCCATCCGCCAAGCTGGG	0.652000													4	31					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675840	102675840	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr14:102675840A>G	uc010txu.2	+	3	1498	c.1426A>G	c.(1426-1428)Agc>Ggc	p.S476G	WDR20_uc001ylf.3_Missense_Mutation_p.S457G|WDR20_uc001ykz.3_Missense_Mutation_p.S445G|WDR20_uc001yky.2_Missense_Mutation_p.S188G|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.S384G|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.S384G|WDR20_uc001yld.3_Missense_Mutation_p.S445G|WDR20_uc021sdy.1_5'Flank	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	445										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						AAATGCTGGCAGCAAAAGCAG	0.532000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	40					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230503	69230503	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:69230503G>A	uc003dnv.2	-	20	2688	c.2398C>T	c.(2398-2400)Ccg>Tcg	p.P800S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.P452S|FRMD4B_uc011bga.1_Missense_Mutation_p.P644S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	800						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGAAGACGGTGGCTCCTGA	0.433000													6	87					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	48					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499793	66499793	+	Silent	SNP	G	G	A	rs138477209	by1000genomes	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr9:66499793G>A	uc004aee.1	+	0	603	c.603G>A	c.(601-603)tcG>tcA	p.S201S	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGTGCAAGTCGCGCAAGGAGC	0.587000													5	35					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33891915	33891915	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:33891915G>T	uc003jia.1	-	0	210	c.47C>A	c.(46-48)gCt>gAt	p.A16D	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A16D|ADAMTS12_uc003jib.1_Missense_Mutation_p.A16D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	16					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGGAGCTGAGCCACCACGGA	0.522000										HNSCC(64;0.19)			4	195					1.23904e-05	1.36871e-05	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128051097	128051097	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:128051097G>T	uc002toh.1	-	1	321	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Missense_Mutation_p.L12I|ERCC3_uc002tog.1_Missense_Mutation_p.L12I|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_Missense_Mutation_p.L76I	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	76					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCACCCAGAGGGGCCTGGAG	0.572000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	26					5.01169e-05	5.47254e-05	1	1	0
X97876	0	broad.mit.edu	37	9	66499739	66499739	+	Silent	SNP	G	G	A	rs150502168	by1000genomes	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr9:66499739G>A	uc004aee.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GCCTGGGACCGTCCATTTTCG	0.602000													9	42					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000													5	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152453307	152453307	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr6:152453307C>A	uc021zhb.1	-	141	26267	c.26044G>T	c.(26044-26046)Ggg>Tgg	p.G8682W	SYNE1_uc003qos.4_Missense_Mutation_p.G3206W|SYNE1_uc003qot.4_Missense_Mutation_p.G8634W|SYNE1_uc003qou.4_Missense_Mutation_p.G8682W|SYNE1_uc011eez.2_Missense_Mutation_p.G884W|SYNE1_uc003qoq.4_Missense_Mutation_p.G884W|SYNE1_uc003qor.4_Missense_Mutation_p.G1605W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8682	Ser-rich.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S8681*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACAGACCCTGAGGTGTCC	0.512000										HNSCC(10;0.0054)			38	55					5.44703e-19	6.80878e-19	1	1	0
HECW1	23072	broad.mit.edu	37	7	43490498	43490498	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:43490498T>C	uc003tid.1	+	11	3075	c.2470T>C	c.(2470-2472)Tac>Cac	p.Y824H	HECW1_uc011kbi.1_Intron	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	824					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCATCACTACCCAACAAT	0.418000													31	25					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10992734	10992734	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:10992734C>T	uc003jfa.1	-	18	3285	c.3140G>A	c.(3139-3141)cGg>cAg	p.R1047Q	CTNND2_uc010itt.2_Missense_Mutation_p.R956Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R710Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R614Q|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R639Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1047					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGCCTTTGCCGGTCCCTCTC	0.587000													19	20					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109490532	109490532	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:109490532A>T	uc010sxi.2	+	0	153	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	USP30_uc001tnu.4_Intron|LOC100131733_uc021rdn.1_Non-coding_Transcript	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	17					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGACAGGGCCATCCAGCGCTT	0.741000													22	25					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24784199	24784199	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:24784199A>T	uc010kus.1	-	2	474	c.386T>A	c.(385-387)aTc>aAc	p.I129N	DFNA5_uc003sxa.1_Missense_Mutation_p.I129N|DFNA5_uc010kut.1_5'UTR	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	129					sensory perception of sound			p.I129M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGTCTCTGATGAGCTGCTG	0.507000													10	46					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	383612	383612	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:383612C>A	uc003bot.3	+	6	1168	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	CHL1_uc003bou.3_Missense_Mutation_p.Q176K|CHL1_uc003bow.2_Missense_Mutation_p.Q176K|CHL1_uc011asi.2_Missense_Mutation_p.Q176K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	176	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.E175K(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACACATCGAACAAGATGAAAG	0.378000													73	82					2.13026e-44	2.85035e-44	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46000087	46000087	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:46000087G>C	uc011bal.1	-	11	3724	c.3612C>G	c.(3610-3612)taC>taG	p.Y1204*	FYCO1_uc003cpb.4_Nonsense_Mutation_p.Y1204*	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1204					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCAGCAGTAGTAACAGAAGA	0.547000													52	41					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:107049632G>A	uc010ywi.1	-	15	2372	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373000													7	513					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75615290	75615290	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:75615290T>C	uc011kge.2	+	7	1183	c.933T>C	c.(931-933)gaT>gaC	p.D311D	POR_uc003udy.3_Silent_p.D573D|POR_uc011kgc.2_Silent_p.D381D	NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	570	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GCCGCTCGGATGAGGACTACC	0.692000													13	50					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73007583	73007583	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:73007583C>A	uc021qnb.1	+	0	20	c.20C>A	c.(19-21)aCa>aAa	p.T7K	P2RY6_uc001otm.3_Missense_Mutation_p.T7K|P2RY6_uc001otn.3_Missense_Mutation_p.T7K|P2RY6_uc001otq.3_Missense_Mutation_p.T7K|P2RY6_uc001otr.3_Missense_Mutation_p.T7K|P2RY6_uc001ots.3_Missense_Mutation_p.T7K	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	7					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GACAATGGCACAGGCCAGGCT	0.597000													20	32					3.5997e-14	4.32875e-14	1	1	0
TMEM202	338949	broad.mit.edu	37	15	72698982	72698982	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:72698982T>A	uc002auq.3	+	2	377	c.377T>A	c.(376-378)gTc>gAc	p.V126D	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	126						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCATCTCTGTCTTTACCATA	0.468000													46	55					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226748	43226748	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:43226748A>G	uc002iig.3	+	0	2065	c.191A>G	c.(190-192)gAa>gGa	p.E64G		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	64					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGGAGGGGGAAGGGAGCCTG	0.682000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	141					0	0	1	0	0
C21orf2	755	broad.mit.edu	37	21	45750162	45750162	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr21:45750162C>A	uc002zeq.2	-	6	1255	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	C21orf2_uc002zeo.1_Missense_Mutation_p.E188D|C21orf2_uc002zep.2_Missense_Mutation_p.E230D|C21orf2_uc002zer.2_Missense_Mutation_p.E229D	NM_004928	NP_004919	O43822	CU002_HUMAN	Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA.	230										endometrium(2)	2				Colorectal(79;0.0806)		CCTCCAGCCCCTCTGCATCCA	0.697000													20	25					1.28384e-07	1.46945e-07	1	1	0
GLCE	26035	broad.mit.edu	37	15	69548696	69548696	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:69548696T>C	uc002ary.1	+	2	779	c.551T>C	c.(550-552)gTc>gCc	p.V184A		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	184					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AATGTGGAAGTCCGAGACAGA	0.428000													15	30					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503439	124503439	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:124503439T>C	uc003vlm.3	-	7	1112	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.K40E	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	171					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACTTCTGCTTTGCCCAAGAGC	0.388000													45	113					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27203455	27203455	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:27203455G>T	uc003syt.3	-	1	659	c.586C>A	c.(586-588)Cca>Aca	p.P196T	HOXA9_uc022aar.1_Non-coding_Transcript	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	196							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TTGGCTGCTGGGTTATCTGCG	0.552000			T	"""NUP98, MSI2"""	AML*								18	51					1.45105e-14	1.76731e-14	1	1	0
DNAJC27	51277	broad.mit.edu	37	2	25180723	25180723	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:25180723G>T	uc002rft.2	-	3	551	c.361C>A	c.(361-363)Cat>Aat	p.H121N	DNAJC27_uc010ykn.1_Missense_Mutation_p.H50N|DNAJC27_uc010eyg.2_Missense_Mutation_p.H121N|DNAJC27_uc002rfu.2_Non-coding_Transcript	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 27 (DNAJC27), transcript variant 1, mRNA.	121					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ATGTTTCCATGAGGTCCAAGC	0.458000													47	67					1.67753e-36	2.18308e-36	1	1	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr6:7727541A>T	uc003mxu.4	+	0	531	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	118					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(2)|p.Q118delQ(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													3	56					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64377795	64377795	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:64377795C>T	uc010ssp.1	+	1	192	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	SRGAP1_uc001srt.3_Missense_Mutation_p.L46F|SRGAP1_uc001srv.2_Missense_Mutation_p.L6F	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	46	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTTCAGCTTCTCCAGGATCT	0.428000													23	30					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612036	189612036	+	Silent	SNP	G	G	C	rs148577576	byFrequency	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:189612036G>C	uc003fry.2	+	13	1877	c.1788G>C	c.(1786-1788)gcG>gcC	p.A596A	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.A502A|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.A417A	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	596	SAM.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCGACATGCGATCTGGAAGG	0.532000										HNSCC(45;0.13)			24	39					0	0	1	0	0
ARL1	400	broad.mit.edu	37	12	101799660	101799660	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:101799660T>C	uc001tib.3	-	1	253	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	ARL1_uc010svn.2_Intron|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	35					small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity|enzyme activator activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		TTGTAATCTGTACAAAATTGT	0.368000													34	36					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197495	15197495	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:15197495C>A	uc001mlz.3	+	2	376	c.265C>A	c.(265-267)Cgc>Agc	p.R89S	INSC_uc001mly.3_Missense_Mutation_p.R136S|INSC_uc001mma.3_Missense_Mutation_p.R89S|INSC_uc010rcs.2_Missense_Mutation_p.R89S|INSC_uc001mmb.3_Missense_Mutation_p.R89S|INSC_uc001mmc.3_Missense_Mutation_p.R89S	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	136					cell differentiation|nervous system development	cytoplasm	binding	p.C88W(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CACAGAGCTGCGCAGGATCGG	0.652000													19	24					1.2644e-06	1.42998e-06	1	1	0
SLC3A1	6519	broad.mit.edu	37	2	44547379	44547379	+	Silent	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:44547379A>G	uc002ruc.4	+	9	1737	c.1659A>G	c.(1657-1659)caA>caG	p.Q553Q	PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Silent_p.Q275Q|SLC3A1_uc002rue.4_Silent_p.Q173Q	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	553					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGTTATATCAAGATTTAAGTC	0.378000													35	66					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976796	67976796	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:67976796G>T	uc002euy.1	-	2	406	c.395C>A	c.(394-396)tCt>tAt	p.S132Y		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	132					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GTACTCCACAGAGTAGGTCTT	0.662000													10	16					2.80697e-09	3.29213e-09	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110488892	110488892	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr8:110488892C>G	uc003yne.3	+	51	9017	c.8913C>G	c.(8911-8913)taC>taG	p.Y2971*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2971					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATATTACTTGGGTATGT	0.343000										HNSCC(38;0.096)			45	64					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40734802	40734802	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:40734802C>A	uc002ial.2	-	7	936	c.833G>T	c.(832-834)aGg>aTg	p.R278M	FAM134C_uc010wgq.1_Missense_Mutation_p.R78M|FAM134C_uc002iam.1_Missense_Mutation_p.R78M|FAM134C_uc010cyk.1_Missense_Mutation_p.R181M	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	Homo sapiens family with sequence similarity 134, member C (FAM134C), transcript variant 1, mRNA.	278						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGCCAATTCCCTGGCAACAGT	0.468000													25	61					8.88839e-20	1.12586e-19	1	1	0
SMG1	23049	broad.mit.edu	37	16	18864921	18864921	+	Silent	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:18864921G>T	uc002dfm.3	-	30	5115	c.4752C>A	c.(4750-4752)atC>atA	p.I1584I	SMG1_uc010bwb.3_Silent_p.I1444I|SMG1_uc010bwa.3_Silent_p.I315I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1584	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTCACTCTCGATCCGAGGAT	0.328000													3	93					0.150653	0.150653	1	1	0
C1orf27	54953	broad.mit.edu	37	1	186355194	186355194	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:186355194T>C	uc021pgj.1	+	2	328	c.309T>C	c.(307-309)gaT>gaC	p.D103D	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.D103D|C1orf27_uc021pgh.1_Silent_p.D103D|C1orf27_uc021pgi.1_Intron|C1orf27_uc021pgk.1_Silent_p.D103D|C1orf27_uc021pgl.1_Intron	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	103						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGGCAAATGATTTTCAAAATG	0.289000													33	44					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699894	48699894	+	Silent	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:48699894G>A	uc003cuf.1	-	2	384	c.384C>T	c.(382-384)ggC>ggT	p.G128G	CELSR3_uc003cul.3_Silent_p.G58G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	58					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGCTCCGCCACCGATAT	0.682000													15	16					0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022430	99022430	+	Silent	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:99022430G>A	uc011kiw.2	-	6	1932	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	ATP5J2-PTCD1_uc003uqh.3_Silent_p.L575L	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	624																	TCATGTCTGTGAGAAGCTGTA	0.612000													8	16					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38260574	38260574	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:38260574C>A	uc004def.4	+	4	647	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	145					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.Q145K(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGTGTATAAACAATCAGATTT	0.403000													5	61					6.40141e-05	6.91061e-05	1	1	0
RBMX2	51634	broad.mit.edu	37	X	129546641	129546641	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:129546641A>T	uc004evt.3	+	5	852	c.788A>T	c.(787-789)aAg>aTg	p.K263M		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	263	Arg-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAAGAAAAGACCAGGATT	0.527000													80	96					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11705226	11705226	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr8:11705226G>T	uc003wuq.3	-	6	800	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CTSB_uc003wul.3_Missense_Mutation_p.P150H|CTSB_uc010lsc.3_Missense_Mutation_p.P89H|CTSB_uc011kxl.2_Missense_Mutation_p.P134H|CTSB_uc003wum.3_Missense_Mutation_p.P213H|CTSB_uc003wun.3_Missense_Mutation_p.P213H|CTSB_uc003wuo.3_Missense_Mutation_p.P213H|CTSB_uc003wup.3_Missense_Mutation_p.P213H|CTSB_uc003wuu.3_Missense_Mutation_p.P69H	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	213					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCTGTAGCCAGGCTCACAGAT	0.647000													20	26					1.22574e-08	1.42006e-08	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72190184	72190184	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:72190184C>G	uc002atl.4	-	24	5133	c.4660G>C	c.(4660-4662)Gta>Cta	p.V1554L	MYO9A_uc010biq.3_Missense_Mutation_p.V1174L|MYO9A_uc002atn.1_Missense_Mutation_p.V1535L|MYO9A_uc002atk.3_Missense_Mutation_p.V278L|MYO9A_uc002atm.1_Missense_Mutation_p.V278L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1554	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCCTCTCTACTCTTTGCTTT	0.423000													37	46					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309011	75309011	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:75309011G>T	uc002azn.2	+	3	401	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	SCAMP5_uc002azl.2_Missense_Mutation_p.G72C|SCAMP5_uc002azm.2_Missense_Mutation_p.G72C|SCAMP5_uc002azk.2_Missense_Mutation_p.G72C|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	72					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACCAACTTTGGCCTCGCCTT	0.602000													14	18					0.000422831	0.000446322	1	1	0
MTL5	9633	broad.mit.edu	37	11	68518126	68518126	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:68518126C>A	uc001ooc.3	-	1	143	c.3G>T	c.(1-3)atG>atT	p.M1I	MTL5_uc001ood.1_Missense_Mutation_p.M1I|MTL5_uc009ysi.1_Missense_Mutation_p.M1I|MTL5_uc001ooe.3_Missense_Mutation_p.M1I	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	1					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGCCCTCCTCCATGGCGCAGG	0.736000													16	12					4.75885e-15	5.87131e-15	1	1	0
NEB	4703	broad.mit.edu	37	2	152359325	152359325	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:152359325A>T	uc021vrb.1	-	137	18836	c.18807T>A	c.(18805-18807)aaT>aaA	p.N6269K	NEB_uc002txr.3_Intron|NEB_uc002txu.3_Missense_Mutation_p.N7970K|NEB_uc021vrc.1_Missense_Mutation_p.N7970K|NEB_uc010fnx.3_Missense_Mutation_p.N6257K|NEB_uc021vrd.1_Missense_Mutation_p.N6269K|RIF1_uc002txp.3_Intron|NEB_uc002txq.3_Missense_Mutation_p.N55K|NEB_uc010zca.2_Intron|NEB_uc010zcb.2_Intron|NEB_uc002txt.4_Intron	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6269					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTCTCTTGATTGCGTTTGA	0.338000													4	56					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28192976	28192976	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr22:28192976C>T	uc003adj.3	-	0	4511	c.3556G>A	c.(3556-3558)Gcc>Acc	p.A1186T		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1186							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCCGACGGCGCACTCACCC	0.647000			T	ETV6	"""AML, meningioma"""								13	19					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403575	69403575	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr4:69403575G>T	uc021xov.1	-	5	1404	c.1361C>A	c.(1360-1362)cCg>cAg	p.P454Q		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	454					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GGGCTTCACCGGTTGATCATG	0.408000													4	116					0.000602214	0.000628685	1	1	0
MCMBP	79892	broad.mit.edu	37	10	121591063	121591063	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr10:121591063G>T	uc001ler.2	-	15	2150	c.1852C>A	c.(1852-1854)Ctg>Atg	p.L618M	MCMBP_uc001leq.1_Missense_Mutation_p.L443M|MCMBP_uc001les.1_Missense_Mutation_p.L443M	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	618					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTTGCTCTCAGCCATCGTTCT	0.408000													4	65					0.00909568	0.00919244	1	1	0
SCYL2	55681	broad.mit.edu	37	12	100731225	100731225	+	Silent	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:100731225C>T	uc001thn.3	+	16	2136	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	SCYL2_uc001thm.1_Silent_p.L696L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	696					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GGCACAGAAGCTGAAAAGCCA	0.373000													21	21					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911824	80911824	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr13:80911824T>C	uc001vli.3	-	1	995	c.17A>G	c.(16-18)cAg>cGg	p.Q6R	SPRY2_uc001vlj.3_Missense_Mutation_p.Q6R|SPRY2_uc021rkz.1_Missense_Mutation_p.Q6R	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	6					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTTGCCACTCTGAGCTCTGGC	0.602000													15	14					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204727	66204727	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:66204727C>G	uc001ohz.4	-	3	406	c.321G>C	c.(319-321)gaG>gaC	p.E107D	MRPL11_uc001ohy.4_Missense_Mutation_p.E107D|MRPL11_uc001oia.4_Missense_Mutation_p.E81D	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	Homo sapiens mitochondrial ribosomal protein L11 (MRPL11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GGCCTGCCACCTCTTTCCCTG	0.547000													17	18					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60936661	60936661	+	Silent	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr10:60936661C>A	uc001jkk.4	+	0	314	c.48C>A	c.(46-48)ccC>ccA	p.P16P	PHYHIPL_uc001jkl.4_5'UTR|PHYHIPL_uc001jkm.4_5'Flank	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	16										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCACCAGCCCCTGTGAGGAGG	0.627000													14	23					2.23348e-06	2.49625e-06	1	1	0
TMEM104	54868	broad.mit.edu	37	17	72781730	72781730	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:72781730T>A	uc002jls.4	+	2	317	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	TMEM104_uc010wrf.1_Missense_Mutation_p.L52Q|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.L52Q	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	52						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTGGTGTTCCTGGGCTTCATG	0.632000													31	24					0	0	1	0	0
HGC6.3	100128124	broad.mit.edu	37	6	168377288	168377288	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr6:168377288T>C	uc010kks.1	-	0	332	c.45A>G	c.(43-45)ggA>ggG	p.G15G		NM_001129895	NP_001123367	Q9UM08	Q9UM08_HUMAN	Homo sapiens uncharacterized LOC100128124 (HGC6.3), mRNA.	15																	TGGGGGTCATTCCCCCTGCAG	0.642000													24	51					0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814657	54814657	+	Silent	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr18:54814657C>T	uc002lgm.3	+	0	365	c.114C>T	c.(112-114)ctC>ctT	p.L38L						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		ACCCTCAGCTCATCGCTATCA	0.706000													9	11					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153926765	153926765	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:153926765A>G	uc021pab.1	-	3	559	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	134					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGATAAGTAGGCAGGACTA	0.512000													12	24					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151884405	151884405	+	Silent	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:151884405A>T	uc003wla.3	-	32	5169	c.4950T>A	c.(4948-4950)acT>acA	p.T1650T	MLL3_uc003wkz.3_Silent_p.T711T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1650					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGGGGCAACAGTTGCCATTT	0.428000			N		medulloblastoma								33	88					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312214	6312214	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:6312214C>T	uc002mel.2	-	2	374	c.296G>A	c.(295-297)gGc>gAc	p.G99D		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	99						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						TATGCTATAGCCACTGCCCAG	0.607000													21	34					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7783233	7783233	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr4:7783233G>T	uc011bwk.1	-	12	1925	c.1652C>A	c.(1651-1653)cCt>cAt	p.P551H	AFAP1_uc003gkg.1_Intron	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	523						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCTGTCAGCAGGAGAGTAGCG	0.532000													36	55					9.45814e-24	1.21422e-23	1	1	0
SSFA2	6744	broad.mit.edu	37	2	182780851	182780851	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:182780851T>C	uc002uoi.3	+	10	2806	c.2484T>C	c.(2482-2484)acT>acC	p.T828T	SSFA2_uc002uoh.3_Silent_p.T828T|SSFA2_uc002uoj.3_Silent_p.T828T|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.T675T|SSFA2_uc002uol.3_Silent_p.T675T|SSFA2_uc002uom.3_Silent_p.T296T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	828						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATGGAAGGACTCCTACCTGTT	0.522000													38	45					0	0	1	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664368	38664368	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:38664368G>T	uc022buw.1	+	0	169	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	MID1IP1_uc004dei.4_Missense_Mutation_p.G57C|MID1IP1_uc010ngz.3_Missense_Mutation_p.G57C|MID1IP1_uc004dej.4_Missense_Mutation_p.G57C	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	57					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CGTGGAGGTAGGCGGCAGTGG	0.662000													60	66					1.49723e-40	1.97551e-40	1	1	0
ITPK1	3705	broad.mit.edu	37	14	93408247	93408247	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr14:93408247A>T	uc001ybg.3	-	10	1193	c.904T>A	c.(904-906)Tac>Aac	p.Y302N	ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Missense_Mutation_p.Y183N|ITPK1_uc001ybh.3_Missense_Mutation_p.Y302N	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	302	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		ACGCCCTCGTAGCCTGGGGGT	0.652000													12	10					0	0	1	0	0
UBE2S	27338	broad.mit.edu	37	19	55913035	55913035	+	Silent	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:55913035A>G	uc002qkx.1	-	3	806	c.438T>C	c.(436-438)gcT>gcC	p.A146A		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA.	146					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GACGGGCCCGAGCCGCATACT	0.677000													3	52					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221032	48221032	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:48221032A>G	uc002iqh.4	-	3	1535	c.1532T>C	c.(1531-1533)aTg>aCg	p.M511T		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	517	Interacts with RGS2 (By similarity).|PDZ.				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CTCCAGGCCCATGTCTGCCCC	0.632000													26	17					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139635	96139635	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:96139635G>A	uc004efv.4	+	0	729	c.326G>A	c.(325-327)gGt>gAt	p.G109D	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	109					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CAGTGGTTTGGTAGAGAGAAA	0.463000								Other identified genes with known or suspected DNA repair function					30	27					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548766	102548766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr14:102548766G>A	uc001yku.4	-	9	1961	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	HSP90AA1_uc001ykv.4_Nonsense_Mutation_p.R713*	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	591					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTCACCAATCGGTTTGACACA	0.393000													14	18					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133380	57133380	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:57133380A>T	uc002qnm.4	+	2	963	c.725A>T	c.(724-726)tAc>tTc	p.Y242F	ZNF71_uc021vcg.1_Missense_Mutation_p.Y242F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAGAAGCCCTACGCGTGCGGG	0.652000													25	34					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862	by1000genomes	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:95825407C>T	uc001pfw.1	-	1	3073	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	596					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q596Q(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								6	58					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885869	88885869	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr8:88885869C>G	uc003ydz.3	-	0	428	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	111								p.P110H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACCCGGAGCTCAGGGGTCGTC	0.542000													29	48					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945227	16945227	+	RNA	SNP	G	G	T	rs9728628		TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:16945227G>T	uc010ocf.2	-	3		c.930C>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CATTCTTACAGGCATTACCTT	0.373000													4	22					0.00909568	0.00919244	1	1	0
BRCA2	675	broad.mit.edu	37	13	32972588	32972588	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr13:32972588A>C	uc001uub.1	+	26	10165	c.9938A>C	c.(9937-9939)aAg>aCg	p.K3313T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3313					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACACCCATAAAGAAAAAAGAA	0.393000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			46	66					0	0	1	0	0
FCGR1B	2210	broad.mit.edu	37	1	120927211	120927212	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:120927211_120927212delGC	uc001eip.3	-	4	818_819	c.768_769delGC	c.(766-771)gagctgfs	p.E256fs	FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Frame_Shift_Del_p.E164fs	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA.	256					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGACATTTCAGCTCTTCTTCTA	0.465													15	177	---	---	---	---					
FCGR1C	100132417	broad.mit.edu	37	1	149378061	149378062	+	RNA	DEL	GC	GC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:149378061_149378062delGC	uc010pbh.2	+	5		c.1102_1103delGC								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		TAGAAGAAGAGCTGAAATGTCA	0.470													31	28	---	---	---	---					
FCGR1A	2209	broad.mit.edu	37	1	149762998	149762999	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:149762998_149762999delGC	uc001esp.4	+	5	1100_1101	c.1050_1051delGC	c.(1048-1053)gagctgfs	p.E350fs	HIST2H2BF_uc010pbj.2_Intron	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	350					interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGAAGAAGAGCTGAAATGTCA	0.475													8	225	---	---	---	---					
SERPINI2	5276	broad.mit.edu	37	3	167189524	167189526	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:167189524_167189526delAAG	uc003fes.1	-	1	198_200	c.127_129delCTT	c.(127-129)cttdel	p.L43del	SERPINI2_uc003fer.1_In_Frame_Del_p.L33del|SERPINI2_uc003fet.1_In_Frame_Del_p.L33del	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	33					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTCTTGATAAAGATCCACTGCA	0.384													35	41	---	---	---	---					
ADD1	118	broad.mit.edu	37	4	2930230	2930232	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr4:2930230_2930232delAAG	uc003gfq.3	+	14	2475_2477	c.2287_2289delAAG	c.(2287-2289)aagdel	p.K765del	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_In_Frame_Del_p.K734del|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	734					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAGAAGAGCAAGAAGAAGAGTG	0.616													50	69	---	---	---	---					
PCDHGC5	56097	broad.mit.edu	37	5	140870632	140870633	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:140870632_140870633insT	uc003lla.2	+	0	1825_1826	c.1825_1826insT	c.(1825-1827)ctgfs	p.L609fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Frame_Shift_Ins_p.L609fs	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	609	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTACTCACTGTTGCCACAG	0.619													19	19	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145547749	145547751	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:145547749_145547751delTCC	uc003lnx.1	-	4	610_612	c.372_374delGGA	c.(370-375)gaggaa>gaa	p.124_125EE>E	LARS_uc011dbq.1_Intron|LARS_uc011dbr.1_In_Frame_Del_p.70_71EE>E|LARS_uc011dbs.1_In_Frame_Del_p.97_98EE>E	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	124					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACTGGTTTCTTCCTCTTCCTCTT	0.330													28	61	---	---	---	---					
LPAL2	80350	broad.mit.edu	37	6	160887594	160887595	+	RNA	INS	-	-	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr6:160887594_160887595insT	uc003qtj.2	-	9		c.1960_1961insA								Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGTGGCTTACAtttttttttat	0.401													3	4	---	---	---	---					
RPS2	6187	broad.mit.edu	37	16	2014483	2014484	+	In_Frame_Ins	INS	-	-	CGGCCT			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:2014483_2014484insCGGCCT	uc002cnn.2	-	0	331_332	c.143_144insAGGCCG	c.(142-144)cgc>cgAGGCCGc	p.48_48R>RGR	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_In_Frame_Ins_p.48_48R>RGR|SNORA10_uc002cnp.1_5'Flank|SNORA64_uc002cnq.2_5'Flank|SNHG9_uc002cnr.3_5'Flank|SNORA78_uc002cns.1_5'Flank|RNF151_uc002cnt.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	48					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGCGAGCTCCGCGGCCTCGGCC	0.757													19	35	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:55028117_55028118insT	uc002iuu.3	-	1	516_517	c.485_486insA	c.(484-486)aacfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													7	112	---	---	---	---					
ACSBG2	81616	broad.mit.edu	37	19	6165945	6165945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:6165945delG	uc002mef.1	+	6	884	c.657delG	c.(655-657)cagfs	p.Q219fs	ACSBG2_uc002mee.1_Frame_Shift_Del_p.Q32fs|ACSBG2_uc002meg.1_Frame_Shift_Del_p.Q219fs|ACSBG2_uc002meh.1_Frame_Shift_Del_p.Q219fs|ACSBG2_uc002mei.1_Frame_Shift_Del_p.Q169fs|ACSBG2_uc010xiz.1_Frame_Shift_Del_p.Q219fs	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	219					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGAGAGCCAGAAGGCGAATC	0.517											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	39	---	---	---	---					
