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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KBTBD6	89890	broad.mit.edu	37	13	41704906	41704906	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:41704906T>C	uc001uxu.1	-	0	2031	c.1742A>G	c.(1741-1743)aAc>aGc	p.N581S	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	581							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGTCACCCGGTTCTTTTTCCA	0.408000														78			119		0	0	0.000147903	0	0
EPHA8	2046	broad.mit.edu	37	1	22902942	22902942	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:22902942G>A	uc001bfx.1	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H	EPHA8_uc001bfw.3_Missense_Mutation_p.R131H	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	131						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTCGGACCGCGACCTGGGG	0.587000														26			21		0	0	0.000175454	0	0
INSRR	3645	broad.mit.edu	37	1	156823725	156823725	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:156823725G>A	uc010pht.2	-	1	755	c.456C>T	c.(454-456)acC>acT	p.T152T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.T152T	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	152					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGTCAATGGTGGAGAGGT	0.642000														10			5		0	0	1.23904e-05	0	0
NCOR2	9612	broad.mit.edu	37	12	124848291	124848291	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:124848291A>G	uc021rga.1	-	20	2979	c.2862T>C	c.(2860-2862)aaT>aaC	p.N954N	NCOR2_uc021rgb.1_Silent_p.N937N|NCOR2_uc010tbb.2_Silent_p.N954N|NCOR2_uc010tbc.2_Silent_p.N936N|NCOR2_uc021rgc.1_Silent_p.N936N|NCOR2_uc010tba.2_Silent_p.N954N|NCOR2_uc001ugj.1_Silent_p.N954N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	954					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGTGAGGCATTGGCCCGGG	0.697000														58			66		0	0	0.000147903	0	0
TSC2	7249	broad.mit.edu	37	16	2130345	2130345	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:2130345G>A	uc002con.3	+	29	3683	c.3577G>A	c.(3577-3579)Ggc>Agc	p.G1193S	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.G1193S|TSC2_uc002coo.3_Missense_Mutation_p.G1149S|TSC2_uc010uvv.2_Missense_Mutation_p.G1113S|TSC2_uc010uvw.2_Missense_Mutation_p.G1101S|TSC2_uc002cop.3_Missense_Mutation_p.G949S|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1193					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTGACCCAGGGCTGGGCGGA	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					60			22		0	0	0.000375601	0	0
KRT83	3889	broad.mit.edu	37	12	52708468	52708468	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:52708468C>T	uc001saf.2	-	8	1492	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	477	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCAGCTGGCCACAGGGCTTG	0.667000														7			5		0	0	1.23904e-05	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966903	58966903	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:58966903T>A	uc002qsv.1	+	3	699	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ZNF324B_uc002qsu.1_Missense_Mutation_p.C188S|ZNF324B_uc010euq.1_Missense_Mutation_p.C198S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAAGCCATGTGCACAGGA	0.672000														23			16		0	0	0.000422831	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609482	84609482	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:84609482T>C	uc004amn.3	+	3	4144	c.4097T>C	c.(4096-4098)aTa>aCa	p.I1366T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1366						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAACCCAGCATATCATATGAA	0.433000														12			10		0	0	3.86212e-05	0	0
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:109834250C>T	uc010sxn.1	+	2	304	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458000														33			39		0	0	0.000374591	0	0
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:70742029G>A	uc002sgs.4	-	1	304	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	19					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity	p.A19V(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597000														22			21		0	0	0.000295444	0	0
GSG1	83445	broad.mit.edu	37	12	13243503	13243503	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:13243503G>A	uc001rbn.3	-	1	482	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	GSG1_uc001rbl.3_Missense_Mutation_p.R87W|GSG1_uc001rbj.3_Missense_Mutation_p.R87W|GSG1_uc001rbk.3_Missense_Mutation_p.R87W|GSG1_uc001rbm.3_Missense_Mutation_p.R87W|GSG1_uc001rbo.3_Missense_Mutation_p.R100W|GSG1_uc001rbp.3_Missense_Mutation_p.R100W|GSG1_uc001rbq.2_Missense_Mutation_p.R100W	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	87						endoplasmic reticulum membrane|integral to membrane		p.S100S(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGAGAACCGGTCATCCCCA	0.542000														117			6		0	0	0.000274275	0	0
TMEM167A	153339	broad.mit.edu	37	5	82357708	82357708	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:82357708A>G	uc003khx.4	-	2	266	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R		NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN	Homo sapiens transmembrane protein 167A (TMEM167A), mRNA.	46						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						ATTCTGGCACACTTCCAAAAT	0.313000														23			25		0	0	0.000117367	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7149598	7149598	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:7149598A>G	uc002gfd.2	-	4	832	c.452T>C	c.(451-453)aTt>aCt	p.I151T	CTDNEP1_uc002gfe.2_Missense_Mutation_p.I151T	NM_001143775	NP_056158	O95476	CNEP1_HUMAN	Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.	151	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTAAGAATGCTTCTGCT	0.498000														89			33		0	0	0.000132358	0	0
RIPK2	8767	broad.mit.edu	37	8	90798839	90798839	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:90798839C>G	uc003yee.3	+	8	1362	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	RIPK2_uc003yef.3_Missense_Mutation_p.Q213E	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	350					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGATCCTCTCAGCTCCATGA	0.323000														104			3		0	0	6.4e-05	0	0
FAM60A	58516	broad.mit.edu	37	12	31435663	31435663	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:31435663A>C	uc001rkc.3	-	4	966	c.724T>G	c.(724-726)Tcc>Gcc	p.S242A	FAM60A_uc010sjz.2_Missense_Mutation_p.S217A|FAM60A_uc001rkd.3_Missense_Mutation_p.S217A|FAM60A_uc010ska.2_Missense_Mutation_p.S217A|FAM60A_uc001rke.3_Missense_Mutation_p.S217A|FAM60A_uc010skb.2_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	217										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCCTGAGTGGAGATGGGCAGA	0.453000														32			44		0	0	0.000147903	0	0
SP110	3431	broad.mit.edu	37	2	231077477	231077477	+	Splice_Site	SNP	T	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:231077477T>G	uc002vqg.3	-	4	823	c.583_splice	c.e4+1	p.V195_splice	SP110_uc002vqh.3_Splice_Site_p.V195_splice|SP110_uc002vqi.4_Splice_Site_p.V195_splice|SP110_uc010fxk.3_Splice_Site_p.V195_splice|SP110_uc021vxx.1_Splice_Site_p.V201_splice	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	195					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GTTTCTCACCTGAAGTGCTTC	0.532000														107			129		0	0	0.000147903	0	0
SETD4	54093	broad.mit.edu	37	21	37410517	37410517	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr21:37410517C>G	uc002yuw.2	-	8	2492	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	SETD4_uc021wiy.1_Missense_Mutation_p.K373N|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.K349N	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	373				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCAAACTTGTCTTCTCATTCG	0.353000														60			54		0	0	0.000147903	0	0
CPEB3	22849	broad.mit.edu	37	10	93812079	93812079	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:93812079A>G	uc001khw.2	-	9	2191	c.1987T>C	c.(1987-1989)Tgt>Cgt	p.C663R	CPEB3_uc001khu.2_Missense_Mutation_p.C672R|CPEB3_uc001khv.2_Missense_Mutation_p.C649R|CPEB3_uc010qnn.2_Missense_Mutation_p.C649R	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	663							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGTATTCACAGTAATACTGC	0.592000														20			16		0	0	0.000308642	0	0
TMEM2	23670	broad.mit.edu	37	9	74313090	74313090	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:74313090G>T	uc011lsa.1	-	19	3948	c.3408C>A	c.(3406-3408)agC>agA	p.S1136R	TMEM2_uc011lrz.1_Missense_Mutation_p.S129R|TMEM2_uc010mos.2_Missense_Mutation_p.S1073R|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1136						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGCCTGTGGCTTTTGGCTT	0.413000														73			39		2.00842e-17	1.11927e-15	8.96297e-05	1	0
IPO8	10526	broad.mit.edu	37	12	30790088	30790088	+	Silent	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:30790088C>G	uc001rjd.3	-	21	2871	c.2523G>C	c.(2521-2523)ctG>ctC	p.L841L	IPO8_uc010sjt.2_Silent_p.L636L|IPO8_uc001rje.1_Silent_p.L330L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	841					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAAGGATACTCAGTCCTATTA	0.393000														41			67		0	0	0.000147903	0	0
MPO	4353	broad.mit.edu	37	17	56348163	56348163	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:56348163A>T	uc002ivu.1	-	11	2269	c.2092T>A	c.(2092-2094)Tca>Aca	p.S698T		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	698					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGGCAATGAGATCTGGGCC	0.547000														26			46		0	0	0.000147903	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322599	4322599	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:4322599C>A	uc003ghu.3	+	7	2029	c.1854C>A	c.(1852-1854)tcC>tcA	p.S618S	ZBTB49_uc003ghv.3_Silent_p.S101S|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.S196S	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCTTTCTCCCAAGACACGT	0.547000														17			19		4.96729e-08	2.59824e-06	0.000132079	1	0
KDM4A	9682	broad.mit.edu	37	1	44169937	44169937	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:44169937A>G	uc001cjx.3	+	21	3257	c.3091A>G	c.(3091-3093)Aca>Gca	p.T1031A	LOC100132774_uc001cjy.3_Intron|LOC100132774_uc021omr.1_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.2_3'UTR	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	1031					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAGATTTTCACAGAGAAAGA	0.438000														165			4		0	0	0.00024832	0	0
MMP24	10893	broad.mit.edu	37	20	33851638	33851638	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:33851638C>A	uc002xbu.2	+	4	865	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	288					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCACGCGCTGGGACTGGA	0.627000														5			6		1.6384e-10	8.8016e-09	8.12818e-05	1	0
TOPORS	10210	broad.mit.edu	37	9	32541815	32541815	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:32541815C>G	uc003zrb.3	-	2	2900	c.2708G>C	c.(2707-2709)cGt>cCt	p.R903P	TOPORS_uc003zrc.3_Missense_Mutation_p.R838P	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	903	Interaction with UBE2I.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AACTGGGGAACGTGAAGCATT	0.368000														90			58		0	0	0.000147903	0	0
CCKAR	886	broad.mit.edu	37	4	26483517	26483517	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:26483517C>T	uc003gse.1	-	4	1183	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGCGCTCTGCGGAGGCG	0.592000														36			30		0	0	0.000184323	0	0
EPHB6	2051	broad.mit.edu	37	7	142566068	142566068	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:142566068G>C	uc011kst.2	+	13	2775	c.1988G>C	c.(1987-1989)cGg>cCg	p.R663P	EPHB6_uc011ksu.2_Missense_Mutation_p.R663P|EPHB6_uc003wbs.3_Missense_Mutation_p.R371P|EPHB6_uc003wbt.3_Missense_Mutation_p.R137P|EPHB6_uc003wbu.3_Missense_Mutation_p.R371P|EPHB6_uc003wbv.3_Missense_Mutation_p.R47P	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	663						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R648L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAACTTGCCCGGGAAGTCGAT	0.577000														94			3		0	0	6.4e-05	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317979	46317979	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:46317979G>A	uc002pdm.3	-	0	627	c.456C>T	c.(454-456)taC>taT	p.Y152Y		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	152						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCTGTCTGGTAGAGGTTGA	0.602000														33			12		0	0	6.40141e-05	0	0
EP400	57634	broad.mit.edu	37	12	132522561	132522561	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:132522561G>A	uc001ujn.3	+	31	6279	c.6127G>A	c.(6127-6129)Gct>Act	p.A2043T	EP400_uc021rgq.1_Missense_Mutation_p.A2042T|EP400_uc001ujm.3_Missense_Mutation_p.A1962T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2079	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGTCAAAGCTGAGGAGTT	0.463000														148			53		0	0	0.000147903	0	0
GTF2H4	2968	broad.mit.edu	37	6	30877829	30877829	+	Silent	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:30877829C>T	uc003nsa.1	+	3	570	c.363C>T	c.(361-363)gcC>gcT	p.A121A	GTF2H4_uc010jsf.2_Silent_p.A121A|GTF2H4_uc011dmv.1_Silent_p.A65A	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	121					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCGCATTGCCCTTCTGGGTG	0.582000								Nucleotide excision repair (NER)						57			45		0	0	0.000147903	0	0
INTS2	57508	broad.mit.edu	37	17	59981846	59981846	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:59981846G>T	uc002izn.3	-	8	1382	c.1306C>A	c.(1306-1308)Cta>Ata	p.L436I	INTS2_uc002izm.3_Missense_Mutation_p.L428I	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	436					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAGGCCAGTAGCATACAAAAG	0.403000														9			16		4.7546e-09	2.509e-07	0.000422831	1	0
RPL37A	6168	broad.mit.edu	37	2	217364692	217364692	+	Silent	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:217364692T>A	uc002vgf.3	+	2	231	c.153T>A	c.(151-153)gcT>gcA	p.A51A	RPL37A_uc002vgg.3_Silent_p.A51A	NM_000998	NP_000989	P61513	RL37A_HUMAN	Homo sapiens ribosomal protein L37a (RPL37A), mRNA.	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGACGAGCTGTGGGGATCT	0.443000														62			70		0	0	0.000147903	0	0
SLC6A18	348932	broad.mit.edu	37	5	1225707	1225707	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:1225707G>C	uc003jby.2	+	0	238	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	39					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGGACTGGGGAACATTTG	0.642000														19			4		0	0	0.000375601	0	0
ZAN	7455	broad.mit.edu	37	7	100349824	100349824	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:100349824C>A	uc003uwj.3	+	13	2261	c.2096C>A	c.(2095-2097)tCc>tAc	p.S699Y	ZAN_uc003uwk.3_Missense_Mutation_p.S699Y|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	699	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCATGGAAGAG	0.512000														56			43		2.37825e-27	1.37684e-25	8.96297e-05	1	0
OBSCN	84033	broad.mit.edu	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:228494234G>A	uc009xez.1	+	43	11865	c.11821G>A	c.(11821-11823)Ggc>Agc	p.G3941S	OBSCN_uc001hsn.3_Missense_Mutation_p.G3941S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3941	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632000														21			25		0	0	0.000147802	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055716	72055716	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:72055716T>C	uc001xms.3	+	1	1488	c.1127T>C	c.(1126-1128)cTg>cCg	p.L376P	SIPA1L1_uc001xmt.3_Missense_Mutation_p.L376P|SIPA1L1_uc001xmu.3_Missense_Mutation_p.L376P|SIPA1L1_uc001xmv.3_Missense_Mutation_p.L376P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	376					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCTGGACCTCTGTCTCATTCA	0.498000														38			20		0	0	0.000295444	0	0
PSMD8	5714	broad.mit.edu	37	19	38874011	38874011	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:38874011A>G	uc002oii.4	+	6	1086	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R		NM_002812	NP_002803	P48556	PSMD8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 (PSMD8), mRNA.	345					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGCCCGGCAGCTGGAGATG	0.557000														15			7		0	0	0.000157383	0	0
PLRG1	5356	broad.mit.edu	37	4	155470082	155470082	+	Silent	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:155470082T>C	uc003iny.3	-	1	140	c.15A>G	c.(13-15)gtA>gtG	p.V5V	PLRG1_uc003inz.3_Silent_p.V5V|PLRG1_uc011cil.2_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	5						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTTTCTGTACCTCCTAAA	0.353000														18			11		0	0	3.86212e-05	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133692538	133692538	+	Silent	SNP	G	C	C	rs150677069		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:133692538G>C	uc003eqa.4	-	2	640	c.366C>G	c.(364-366)tcC>tcG	p.S122S	SLCO2A1_uc011blv.2_Silent_p.S122S|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	122					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTAGGGCTCGGAGAGGAAGT	0.582000														19			8		0	0	0.000274275	0	0
CASC3	22794	broad.mit.edu	37	17	38319005	38319005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:38319005G>A	uc010cwt.1	+	5	931	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CASC3_uc010cws.1_Nonsense_Mutation_p.W212*|CASC3_uc002hue.3_Nonsense_Mutation_p.W212*	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	212	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAAAGCTATGGAAGGATGAGG	0.493000														39			12		0	0	6.40141e-05	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390027	101390027	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:101390027A>G	uc003dve.4	-	2	955	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	242	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCAATAAAAAGATCTCGAAA	0.363000														58			24		0	0	5.49717e-05	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055734	72055734	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:72055734T>A	uc001xms.3	+	1	1506	c.1145T>A	c.(1144-1146)tTt>tAt	p.F382Y	SIPA1L1_uc001xmt.3_Missense_Mutation_p.F382Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.F382Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.F382Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	382					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGCCAGTTTTAGCTCCCCA	0.507000														34			17		0	0	5.01169e-05	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009021	61009021	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:61009021T>C	uc002sai.3	+	11	1156	c.907_splice	c.e11-1	p.V303_splice	PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site|PAPOLG_uc010fch.3_Splice_Site	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	303					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTTCACAGGTAAATCCATCA	0.358000														116			3		0	0	0.00024832	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226699	204226699	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:204226699C>T	uc001hau.3	-	8	1623	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	PLEKHA6_uc009xaw.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xax.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xay.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xaz.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xba.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xbb.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xbc.1_Missense_Mutation_p.E60K	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	436										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCATCCAGCTCATCATAATAG	0.687000														6			9		0	0	6.40141e-05	0	0
EP400	57634	broad.mit.edu	37	12	132522562	132522562	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:132522562C>T	uc001ujn.3	+	31	6280	c.6128C>T	c.(6127-6129)gCt>gTt	p.A2043V	EP400_uc021rgq.1_Missense_Mutation_p.A2042V|EP400_uc001ujm.3_Missense_Mutation_p.A1962V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2079	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGGTCAAAGCTGAGGAGTTT	0.463000														149			51		0	0	0.000147903	0	0
LOC81691	81691	broad.mit.edu	37	16	20851091	20851091	+	Silent	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:20851091C>T	uc002dhy.4	+	13	1773	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Silent_p.A466A|LOC81691_uc002dhx.3_Silent_p.A466A	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	466						nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TTGAGCAGGCCAGAGTGGAAA	0.448000														149			242		0	0	0.000147903	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														8			5		0	0	1.23904e-05	0	0
SFMBT1	51460	broad.mit.edu	37	3	52988412	52988412	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:52988412A>G	uc003dgf.3	-	3	667	c.44T>C	c.(43-45)aTg>aCg	p.M15T	SFMBT1_uc003dgg.3_Missense_Mutation_p.M15T|SFMBT1_uc003dgh.3_Missense_Mutation_p.M15T	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	15					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TACCTCTTCCATACCAGAGCC	0.333000														74			105		0	0	0.000147903	0	0
ARID1B	57492	broad.mit.edu	37	6	157527600	157527600	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:157527600G>A	uc003qqp.3	+	18	5286	c.5286G>A	c.(5284-5286)aaG>aaA	p.K1762K	ARID1B_uc003qqo.3_Silent_p.K1775K|ARID1B_uc003qqn.3_Silent_p.K1815K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1762					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACCCAAAGGAGAAGCCCA	0.517000														60			40		0	0	0.000228196	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3648675	3648675	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:3648675C>T	uc002lyj.2	-	8	1248	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	PIP5K1C_uc010xhq.2_Missense_Mutation_p.G387R|PIP5K1C_uc010xhr.2_Missense_Mutation_p.G387R	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	387	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCGCTCCCCGCGGCCGTTC	0.692000														17			20		0	0	0.000295444	0	0
NRIP1	8204	broad.mit.edu	37	21	16338944	16338944	+	Missense_Mutation	SNP	T	C	C	rs149069507	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr21:16338944T>C	uc021whl.1	-	0	1570	c.1570A>G	c.(1570-1572)Aat>Gat	p.N524D	NRIP1_uc002yjx.2_Missense_Mutation_p.N524D	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	524	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTCACATCATTGTGTACTCCC	0.403000														137			93		0	0	0.000147903	0	0
VCP	7415	broad.mit.edu	37	9	35061057	35061057	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:35061057A>G	uc003zvy.2	-	10	1703	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D	VCP_uc010mkh.1_Silent_p.D107D|VCP_uc010mki.1_Silent_p.D393D	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	438					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACCTCGGCATCAATGGTCT	0.537000														108			111		0	0	0.000147903	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049869	47049869	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:47049869G>A	uc003cqp.3	+	50	7995	c.7816G>A	c.(7816-7818)Gca>Aca	p.A2606T	NBEAL2_uc010hjm.2_Missense_Mutation_p.A1983T|NBEAL2_uc010hjn.2_Missense_Mutation_p.A972T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2606							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTTCCACCTGGCATTGGGGTC	0.597000														15			23		0	0	0.000295444	0	0
MAP4K4	9448	broad.mit.edu	37	2	102493544	102493544	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:102493544C>A	uc002tbc.3	+	25	3507	c.3129C>A	c.(3127-3129)atC>atA	p.I1043I	MAP4K4_uc002tbf.3_Silent_p.I996I|MAP4K4_uc002tbd.3_Silent_p.I935I|MAP4K4_uc010yvy.2_Silent_p.I958I|MAP4K4_uc002tbh.3_Silent_p.I880I|MAP4K4_uc002tbg.3_Silent_p.I962I|MAP4K4_uc002tbi.3_Silent_p.I765I|MAP4K4_uc010yvz.2_Silent_p.I1002I|MAP4K4_uc002tbk.3_Silent_p.I417I|MAP4K4_uc021vlq.1_Silent_p.I148I|MAP4K4_uc002tbl.3_Silent_p.I148I	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	962	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCCTCTTATCAACCGAAGAC	0.453000														31			49		9.58827e-17	5.29397e-15	0.000147903	1	0
DCTN1	1639	broad.mit.edu	37	2	74597431	74597431	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:74597431T>A	uc002skx.3	-	11	1487	c.1169A>T	c.(1168-1170)aAg>aTg	p.K390M	DCTN1_uc002skv.3_Missense_Mutation_p.K256M|DCTN1_uc002sku.3_Missense_Mutation_p.K256M|DCTN1_uc002skw.2_Missense_Mutation_p.K383M|DCTN1_uc010ffd.3_Missense_Mutation_p.K370M|DCTN1_uc002sky.3_Missense_Mutation_p.K353M	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	390					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTCTGGAGCTTCACATGCTC	0.547000														41			19		0	0	0.000175454	0	0
AK302879	0	broad.mit.edu	37	15	76074693	76074693	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:76074693C>T	uc010umm.1	+	8	765	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AGAGAGGGCCCGGTGGCAGGA	0.483000														32			35		0	0	0.000106405	0	0
HMG20A	10363	broad.mit.edu	37	15	77756662	77756662	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:77756662A>G	uc002bcr.3	+	3	371	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	HMG20A_uc002bcq.1_Missense_Mutation_p.Q57R|HMG20A_uc002bcs.3_Missense_Mutation_p.Q57R	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	57					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GATCTCTCTCAAGGTCAGTTG	0.448000														43			32		0	0	7.24521e-05	0	0
SCUBE3	222663	broad.mit.edu	37	6	35199528	35199528	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:35199528G>T	uc003okf.1	+	3	367	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SCUBE3_uc003okg.1_Missense_Mutation_p.G121C|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	121	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGAGGGCAACGGCGGCTGTCA	0.582000														18			16		1.02788e-11	5.57206e-10	5.01169e-05	1	0
ANKK1	255239	broad.mit.edu	37	11	113270078	113270078	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:113270078A>G	uc001pny.3	+	7	1481	c.1387A>G	c.(1387-1389)Acc>Gcc	p.T463A		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	463							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGAAGGGTGGACCCCTCTTCA	0.622000														6			3		0	0	6.4e-05	0	0
UPP2	151531	broad.mit.edu	37	2	158971732	158971732	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:158971732A>G	uc002tzo.3	+	4	491	c.471A>G	c.(469-471)agA>agG	p.R157R	UPP2_uc002tzp.3_Silent_p.R100R	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	100				T -> R (in Ref. 1; AAO61681).	nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GGACAGACAGATACTGTATGT	0.458000														74			33		0	0	7.24521e-05	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377390	68377390	+	Silent	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:68377390T>A	uc001onv.3	+	23	2754	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	PPP6R3_uc001onw.3_Silent_p.S823S|PPP6R3_uc001ony.4_Silent_p.S794S|PPP6R3_uc001onx.3_Silent_p.S817S|PPP6R3_uc009ysh.3_Silent_p.S743S|PPP6R3_uc001onu.3_Silent_p.S743S|PPP6R3_uc010rqc.2_Silent_p.S591S|PPP6R3_uc010rqd.2_Silent_p.S506S|PPP6R3_uc001onz.3_Silent_p.S151S|PPP6R3_uc001ooa.3_Silent_p.S279S	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	823					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAACTGTCTACCTCTCAAG	0.577000														64			51		0	0	0.000147903	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467233	44467233	+	Silent	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:44467233G>C	uc001cll.3	-	8	1440	c.1248C>G	c.(1246-1248)tcC>tcG	p.S416S	SLC6A9_uc009vxe.2_Silent_p.S272S|SLC6A9_uc010okm.1_Silent_p.S343S|SLC6A9_uc001clm.3_Silent_p.S362S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S347S|SLC6A9_uc010oko.2_Silent_p.S232S|SLC6A9_uc001cln.3_Silent_p.S343S|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	416						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGCCGAGGATGGAGAAGATGA	0.597000														99			4		0	0	0.00024832	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714066	32714066	+	Silent	SNP	C	T	T	rs143176293		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:32714066C>T	uc003obx.3	+	3	721	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	221					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGGTCTGCGCCCTGGGGT	0.552000														70			62		0	0	0.000147903	0	0
KNDC1	85442	broad.mit.edu	37	10	135012252	135012252	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:135012252G>C	uc001llz.1	+	13	2241	c.2240G>C	c.(2239-2241)gGg>gCg	p.G747A	KNDC1_uc001lma.1_Missense_Mutation_p.G682A|KNDC1_uc001lmb.1_Missense_Mutation_p.G159A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	747	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCTCTTGGGGCGTCAGTG	0.726000														2			3		0	0	6.4e-05	0	0
KCNH1	3756	broad.mit.edu	37	1	211192165	211192165	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:211192165G>A	uc001hib.2	-	5	1162	c.992C>T	c.(991-993)gCt>gTt	p.A331V	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	331					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCTGATCAGCAAAACCAAT	0.448000														90			47		0	0	0.000147903	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336447	104336447	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:104336447T>C	uc001tkb.1	+	11	1622	c.1517T>C	c.(1516-1518)cTt>cCt	p.L506P	HSP90B1_uc010swg.1_Missense_Mutation_p.L171P|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	506					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGAACACGTCTTGCTAAACTT	0.373000														51			79		0	0	0.000147903	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146121	194146121	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:194146121G>A	uc003fty.4	-	28	3665	c.3263C>T	c.(3262-3264)gCa>gTa	p.A1088V	ATP13A3_uc003ftx.4_5'UTR	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1088					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGGCAATTGCCACTATGAG	0.353000														40			47		0	0	0.000147903	0	0
APBA3	9546	broad.mit.edu	37	19	3760228	3760228	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:3760228C>T	uc002lyp.1	-	1	212	c.35G>A	c.(34-36)gGg>gAg	p.G12E	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	12					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622000														11			8		0	0	0.000157383	0	0
SPATA17	128153	broad.mit.edu	37	1	217975148	217975148	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:217975148G>T	uc001hlh.1	+	8	987	c.961G>T	c.(961-963)Gaa>Taa	p.E321*		NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	321						cytoplasm	calmodulin binding	p.E321Q(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294000														29			24		4.4004e-07	2.2817e-05	5.49717e-05	1	0
CDC5L	988	broad.mit.edu	37	6	44390515	44390515	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:44390515A>T	uc003oxl.3	+	9	1683	c.1373A>T	c.(1372-1374)gAc>gTc	p.D458V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	458	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAATGGCAGACTATAGTGAT	0.383000														72			56		0	0	0.000147903	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72503320	72503320	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:72503320G>T	uc001jrg.3	+	12	1950	c.1950G>T	c.(1948-1950)gaG>gaT	p.E650D	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E647D|ADAMTS14_uc001jri.1_Missense_Mutation_p.E170D	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	647	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAAGTGTGAGCTGATCTGCC	0.597000														25			15		6.81908e-15	3.73047e-13	0.000219431	1	0
VARS2	57176	broad.mit.edu	37	6	30883015	30883015	+	Splice_Site	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:30883015G>A	uc011dmz.2	+	3	454	c.373_splice	c.e3+1	p.D125_splice	VARS2_uc003nsc.2_Splice_Site_p.D95_splice|VARS2_uc003nsd.3_Splice_Site_p.D95_splice|VARS2_uc011dmx.2_Splice_Site_p.D95_splice|VARS2_uc011dmy.2_Splice_Site|VARS2_uc011dna.2_Splice_Site_p.D95_splice|VARS2_uc011dnb.2_Splice_Site|VARS2_uc011dnc.2_Splice_Site	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	95					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GAAAAGAAAGGTAAGTAGAAT	0.453000														40			45		0	0	0.000437636	0	0
FABP12	646486	broad.mit.edu	37	8	82441686	82441686	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:82441686C>T	uc011lfp.2	-	1	233	c.233G>A	c.(232-234)gGc>gAc	p.G78D	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	78							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TGTTTTGTGGCCACCTGGCGT	0.388000														108			70		0	0	0.000147903	0	0
PSMB4	5692	broad.mit.edu	37	1	151372078	151372078	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:151372078G>A	uc001eyc.1	+	0	38	c.15G>A	c.(13-15)ttG>ttA	p.L5L	PSMB4_uc010pda.2_Silent_p.L5L	NM_002796	NP_002787	P28070	PSB4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 4 (PSMB4), mRNA.	5					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCGTTTTTGGGGTCGCGGT	0.542000														59			41		0	0	0.000147903	0	0
SYNE1	23345	broad.mit.edu	37	6	152671451	152671451	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:152671451T>C	uc021zhb.1	-	69	11976	c.11753A>G	c.(11752-11754)gAg>gGg	p.E3918G	SYNE1_uc003qot.4_Intron|SYNE1_uc003qou.4_Missense_Mutation_p.E3918G|SYNE1_uc010kja.2_Missense_Mutation_p.E623G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3918					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			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)		GACTTTCGCCTCCAGACTGAA	0.473000										HNSCC(10;0.0054)				48			18		0	0	0.000175454	0	0
ZNF180	7733	broad.mit.edu	37	19	44981073	44981073	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:44981073G>C	uc002ozf.4	-	4	1907	c.1625C>G	c.(1624-1626)aCt>aGt	p.T542S	ZNF180_uc002ozh.4_Missense_Mutation_p.T199S|ZNF180_uc002ozi.4_Missense_Mutation_p.T515S|ZNF180_uc002ozg.4_Missense_Mutation_p.T541S|ZNF180_uc010ejm.3_Missense_Mutation_p.T517S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R541I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGTGTGAGTTCTTTGATG	0.423000														48			29		0	0	0.000184323	0	0
PTPRD	5789	broad.mit.edu	37	9	8471073	8471073	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:8471073T>C	uc003zkk.3	-	30	4169	c.3426A>G	c.(3424-3426)atA>atG	p.I1142M	PTPRD_uc003zkp.3_Missense_Mutation_p.I731M|PTPRD_uc003zkq.3_Missense_Mutation_p.I731M|PTPRD_uc003zkr.3_Missense_Mutation_p.I726M|PTPRD_uc003zks.3_Missense_Mutation_p.I721M|PTPRD_uc022bdj.1_Missense_Mutation_p.I728M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1142					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCACAATTATTATGTAGTAAC	0.393000										TSP Lung(15;0.13)				52			48		0	0	0.000147903	0	0
PEX5	5830	broad.mit.edu	37	12	7343122	7343122	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:7343122T>C	uc009zfu.2	+	3	727	c.147_splice	c.e3+2	p.A49_splice	PEX5_uc001qsw.3_Splice_Site_p.A49_splice|PEX5_uc010sgc.2_Missense_Mutation_p.V50A|PEX5_uc001qsu.3_Splice_Site_p.A49_splice|PEX5_uc010sgd.2_Splice_Site_p.A70_splice|PEX5_uc001qsv.3_Splice_Site_p.A49_splice	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	49					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCTGAGGCAGTGAGTGTTCTT	0.632000														10			10		0	0	3.86212e-05	0	0
LRIG1	26018	broad.mit.edu	37	3	66460690	66460690	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:66460690C>A	uc003dmx.3	-	6	812	c.798G>T	c.(796-798)ctG>ctT	p.L266L	LRIG1_uc010hnz.3_Silent_p.L6L|LRIG1_uc010hoa.3_Silent_p.L266L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	266						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGTTGTACTCCAGGTGCCTGC	0.567000														236			8		0.000157383	0.00802117	0.000157383	1	0
THBS1	7057	broad.mit.edu	37	15	39885267	39885267	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:39885267T>C	uc001zkh.3	+	17	3013	c.2834T>C	c.(2833-2835)aTc>aCc	p.I945T	THBS1_uc010bbi.3_Missense_Mutation_p.I417T	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	945					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATCGATGACATCTGTCCTGAG	0.478000														30			25		0	0	0.000184323	0	0
ZNF626	199777	broad.mit.edu	37	19	20807769	20807769	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:20807769A>C	uc002npb.1	-	3	1064	c.914T>G	c.(913-915)aTa>aGa	p.I305R	ZNF626_uc002npc.1_Missense_Mutation_p.I229R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGTGT	0.363000														78			3		0	0	0.00024832	0	0
ANXA3	306	broad.mit.edu	37	4	79516549	79516549	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:79516549A>G	uc003hld.3	+	7	808	c.498A>G	c.(496-498)gaA>gaG	p.E166E		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	166					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAAGAGATGAAAGTCTGAAAG	0.443000														127			71		0	0	0.000147903	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800245	34800245	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:34800245A>G	uc010gfq.3	+	5	2791	c.2428A>G	c.(2428-2430)Att>Gtt	p.I810V	EPB41L1_uc002xeu.3_Missense_Mutation_p.I637V|EPB41L1_uc010zvo.1_Missense_Mutation_p.I711V|EPB41L1_uc002xev.3_Missense_Mutation_p.I711V|EPB41L1_uc002xew.3_Missense_Mutation_p.I602V|EPB41L1_uc002xex.3_Missense_Mutation_p.I531V|EPB41L1_uc002xey.3_Missense_Mutation_p.I489V|EPB41L1_uc002xez.3_Missense_Mutation_p.I637V|EPB41L1_uc002xfb.3_Missense_Mutation_p.I711V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	711	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TAGAAAGAAGATTGAGCCGGA	0.493000														52			26		0	0	0.000184323	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269265	1269265	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:1269265G>A	uc010nyk.2	+	5	1980	c.1980G>A	c.(1978-1980)gtG>gtA	p.V660V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	660					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	AGATCTTCGTGGAGTCAGAAC	0.697000														20			8		0	0	0.000274275	0	0
RRNAD1	51093	broad.mit.edu	37	1	156705540	156705540	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:156705540G>A	uc001fpu.3	+	6	1779	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	RRNAD1_uc001fpv.3_Silent_p.A220A	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	382						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGGCTACAGCGAGTGGGGCTA	0.547000														31			28		0	0	7.24521e-05	0	0
CHD1	1105	broad.mit.edu	37	5	98236974	98236974	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:98236974T>C	uc003knf.3	-	4	651	c.503A>G	c.(502-504)gAa>gGa	p.E168G		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	168					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTCTCTCTCTTCTTCAGATTC	0.358000														64			60		0	0	0.000147903	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384412	8384412	+	RNA	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:8384412G>A	uc010sgk.2	-	4		c.1376C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGTCCTTCCCGCAGCTTCTTC	0.582000														36			7		0	0	3.86212e-05	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														82			4		0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179468605	179468605	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:179468605A>G	uc021vsy.1	-	230	47330	c.47105T>C	c.(47104-47106)aTa>aCa	p.I15702T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I9397T|TTN_uc021vta.1_Missense_Mutation_p.I9330T|TTN_uc021vtb.1_Missense_Mutation_p.I9205T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16629	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTACATATGGGATCTCC	0.398000														50			25		0	0	5.49717e-05	0	0
NICN1	84276	broad.mit.edu	37	3	49463424	49463424	+	Silent	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:49463424C>G	uc003cwz.1	-	2	400	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Intron	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	105						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCATGTCACACAGCATCTGAC	0.567000														23			11		0	0	6.40141e-05	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708962	36708962	+	Splice_Site	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:36708962C>G	uc002hqd.3	-	12	2557	c.2332_splice	c.e12+1	p.A778_splice	SRCIN1_uc002hqf.1_Splice_Site_p.A650_splice|SRCIN1_uc002hqe.2_Splice_Site_p.A632_splice|SRCIN1_uc002hqg.3_Splice_Site_p.A84_splice	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	650					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CAGACCCACCCTTGAGCTCTG	0.632000														48			26		0	0	0.000184323	0	0
NCOR1	9611	broad.mit.edu	37	17	16089949	16089949	+	Nonsense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:16089949G>C	uc002gpo.3	-	2	430	c.161C>G	c.(160-162)tCa>tGa	p.S54*	NCOR1_uc002gpn.3_Nonsense_Mutation_p.S54*|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.3_Intron|NCOR1_uc002gps.2_Nonsense_Mutation_p.S54*|NCOR1_uc010cpb.2_Nonsense_Mutation_p.S54*|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Nonsense_Mutation_p.S54*|NCOR1_uc002gpu.3_Nonsense_Mutation_p.S54*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	54	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAAAGCTGTGATGCCTGACT	0.403000														57			28		0	0	0.000117367	0	0
CERK	64781	broad.mit.edu	37	22	47108141	47108141	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr22:47108141T>G	uc003bia.3	-	3	536	c.429A>C	c.(427-429)aaA>aaC	p.K143N	CERK_uc010hae.3_5'UTR	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	143	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.G142*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCCTTGTCCTTTTCCTCCAA	0.388000														36			19		0	0	0.000295444	0	0
FGGY	55277	broad.mit.edu	37	1	59812021	59812021	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:59812021G>C	uc009wac.3	+	3	628	c.416G>C	c.(415-417)gGg>gCg	p.G139A	FGGY_uc001czg.2_Missense_Mutation_p.G27A|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.G139A|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	139					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.G139V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TACGTCGGGGGGGTGATGTCT	0.502000														41			3		0	0	0.00024832	0	0
LILRB3	11025	broad.mit.edu	37	19	54803120	54803120	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:54803120G>T	uc002qfd.3	-	3	649	c.557C>A	c.(556-558)cCc>cAc	p.P186H	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	185	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTCACGGGGCCCACGGA	0.587000														51			36		4.62619e-21	2.62724e-19	0.000132358	1	0
HARBI1	283254	broad.mit.edu	37	11	46637368	46637368	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:46637368C>A	uc001ncy.3	-	1	668	c.420G>T	c.(418-420)ggG>ggT	p.G140G	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	140						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCCCTGGCATCCCTGCCAACC	0.512000														117			63		7.1157e-29	4.15989e-27	0.000147903	1	0
PAPPA	5069	broad.mit.edu	37	9	118949550	118949550	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:118949550G>T	uc004bjn.3	+	1	914	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	178					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGACAGACCGAGCCCGGCAA	0.532000														39			26		2.79863e-10	1.49002e-08	9.22233e-05	1	0
NALCN	259232	broad.mit.edu	37	13	101944368	101944368	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:101944368G>T	uc001vox.1	-	8	1209	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	NALCN_uc001voy.3_Missense_Mutation_p.S55R|NALCN_uc001voz.2_Missense_Mutation_p.S340R|NALCN_uc001vpa.2_Missense_Mutation_p.S340R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	340						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTAGTGCTGCTTCTCGATC	0.438000														17			26		5.77227e-19	3.24717e-17	0.000227799	1	0
EPB42	2038	broad.mit.edu	37	15	43508525	43508525	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:43508525C>T	uc001zrb.4	-	1	527	c.227G>A	c.(226-228)cGc>cAc	p.R76H	EPB42_uc001zra.4_Missense_Mutation_p.R46H|EPB42_uc010udm.2_Missense_Mutation_p.R46H	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	46					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GACTGGAGCGCGGAAGTACAG	0.597000														34			26		0	0	0.000184323	0	0
ANGPT2	285	broad.mit.edu	37	8	6360731	6360731	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:6360731G>T	uc003wqj.4	-	8	1711	c.1382C>A	c.(1381-1383)cCa>cAa	p.P461Q	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.P460Q|ANGPT2_uc010lri.3_Missense_Mutation_p.P409Q	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	461	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTGCCTCTGTGGATAGTACAT	0.463000														34			22		2.27731e-05	0.00117065	0.000229342	1	0
TMEM120A	83862	broad.mit.edu	37	7	75617587	75617587	+	Silent	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:75617587G>T	uc003ued.3	-	6	647	c.543C>A	c.(541-543)ctC>ctA	p.L181L	TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Silent_p.L86L|TMEM120A_uc022agl.1_Silent_p.L86L	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	182						integral to membrane											CGTTGTTGATGAGGATGCTCT	0.657000														53			36		6.03168e-27	3.45836e-25	0.000159656	1	0
BIN3	55909	broad.mit.edu	37	8	22488017	22488017	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:22488017G>A	uc003xcl.3	-	4	332	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	BIN3_uc010ltw.3_Silent_p.L25L	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	79	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACCATGTTCAGAAGGTCCTGG	0.532000														82			58		0	0	0.000147903	0	0
NPEPL1	79716	broad.mit.edu	37	20	57276200	57276200	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:57276200A>G	uc010zzs.1	+	5	903	c.808A>G	c.(808-810)Agc>Ggc	p.S270G	NPEPL1_uc010zzr.2_Missense_Mutation_p.S222G|NPEPL1_uc010gjo.2_Missense_Mutation_p.S242G|NPEPL1_uc002xzp.3_Missense_Mutation_p.S158G	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	270					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGAGGCCTCAGCATCAAAGG	0.687000														3			4		0	0	0.00024832	0	0
FAM123B	139285	broad.mit.edu	37	X	63411696	63411696	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrX:63411696G>A	uc022byb.1	-	0	1471	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	FAM123B_uc004dvo.3_Missense_Mutation_p.R491C	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	491					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CAATCCCTGCGGACAAGCCCC	0.522000														4			16		0	0	9.7654e-05	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151821	151151821	+	Missense_Mutation	SNP	C	T	T	rs138970683	by1000genomes	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:151151821C>T	uc011eem.1	+	14	1839	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A565V|PLEKHG1_uc003qny.1_Missense_Mutation_p.A525V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A525V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	525					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R584H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTGCTTCGAGCGGGTGGAGCT	0.547000														22			11		0	0	3.86212e-05	0	0
PCSK1	5122	broad.mit.edu	37	5	95728748	95728748	+	Missense_Mutation	SNP	C	T	T	rs140941383		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:95728748C>T	uc003kls.2	-	13	2458	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R430Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R693Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	740	Amphipathic (Potential).				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGAAGCAGCCGGTCGTCTCT	0.398000														112			91		0	0	0.000147903	0	0
KBTBD6	89890	broad.mit.edu	37	13	41704906	41704906	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr13:41704906T>C	uc001uxu.1	-	0	2031	c.1742A>G	c.(1741-1743)aAc>aGc	p.N581S	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	581							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGTCACCCGGTTCTTTTTCCA	0.408000														78			119		0	0	0.000147903	0	0
EPHA8	2046	broad.mit.edu	37	1	22902942	22902942	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:22902942G>A	uc001bfx.1	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H	EPHA8_uc001bfw.3_Missense_Mutation_p.R131H	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	131						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTCGGACCGCGACCTGGGG	0.587000														26			21		0	0	0.000175454	0	0
INSRR	3645	broad.mit.edu	37	1	156823725	156823725	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:156823725G>A	uc010pht.2	-	1	755	c.456C>T	c.(454-456)acC>acT	p.T152T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.T152T	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	152					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGTCAATGGTGGAGAGGT	0.642000														10			5		0	0	1.23904e-05	0	0
NCOR2	9612	broad.mit.edu	37	12	124848291	124848291	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:124848291A>G	uc021rga.1	-	20	2979	c.2862T>C	c.(2860-2862)aaT>aaC	p.N954N	NCOR2_uc021rgb.1_Silent_p.N937N|NCOR2_uc010tbb.2_Silent_p.N954N|NCOR2_uc010tbc.2_Silent_p.N936N|NCOR2_uc021rgc.1_Silent_p.N936N|NCOR2_uc010tba.2_Silent_p.N954N|NCOR2_uc001ugj.1_Silent_p.N954N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	954					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGTGAGGCATTGGCCCGGG	0.697000														58			66		0	0	0.000147903	0	0
TSC2	7249	broad.mit.edu	37	16	2130345	2130345	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr16:2130345G>A	uc002con.3	+	29	3683	c.3577G>A	c.(3577-3579)Ggc>Agc	p.G1193S	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.G1193S|TSC2_uc002coo.3_Missense_Mutation_p.G1149S|TSC2_uc010uvv.2_Missense_Mutation_p.G1113S|TSC2_uc010uvw.2_Missense_Mutation_p.G1101S|TSC2_uc002cop.3_Missense_Mutation_p.G949S|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1193					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTGACCCAGGGCTGGGCGGA	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					60			22		0	0	0.000375601	0	0
KRT83	3889	broad.mit.edu	37	12	52708468	52708468	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:52708468C>T	uc001saf.2	-	8	1492	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	477	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCAGCTGGCCACAGGGCTTG	0.667000														7			5		0	0	1.23904e-05	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966903	58966903	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:58966903T>A	uc002qsv.1	+	3	699	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ZNF324B_uc002qsu.1_Missense_Mutation_p.C188S|ZNF324B_uc010euq.1_Missense_Mutation_p.C198S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAAGCCATGTGCACAGGA	0.672000														23			16		0	0	0.000422831	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609482	84609482	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:84609482T>C	uc004amn.3	+	3	4144	c.4097T>C	c.(4096-4098)aTa>aCa	p.I1366T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1366						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAACCCAGCATATCATATGAA	0.433000														12			10		0	0	3.86212e-05	0	0
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:109834250C>T	uc010sxn.1	+	2	304	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458000														33			39		0	0	0.000374591	0	0
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:70742029G>A	uc002sgs.4	-	1	304	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	19					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity	p.A19V(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597000														22			21		0	0	0.000295444	0	0
GSG1	83445	broad.mit.edu	37	12	13243503	13243503	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:13243503G>A	uc001rbn.3	-	1	482	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	GSG1_uc001rbl.3_Missense_Mutation_p.R87W|GSG1_uc001rbj.3_Missense_Mutation_p.R87W|GSG1_uc001rbk.3_Missense_Mutation_p.R87W|GSG1_uc001rbm.3_Missense_Mutation_p.R87W|GSG1_uc001rbo.3_Missense_Mutation_p.R100W|GSG1_uc001rbp.3_Missense_Mutation_p.R100W|GSG1_uc001rbq.2_Missense_Mutation_p.R100W	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	87						endoplasmic reticulum membrane|integral to membrane		p.S100S(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGAGAACCGGTCATCCCCA	0.542000														117			6		0	0	0.000274275	0	0
TMEM167A	153339	broad.mit.edu	37	5	82357708	82357708	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr5:82357708A>G	uc003khx.4	-	2	266	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R		NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN	Homo sapiens transmembrane protein 167A (TMEM167A), mRNA.	46						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						ATTCTGGCACACTTCCAAAAT	0.313000														23			25		0	0	0.000117367	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7149598	7149598	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:7149598A>G	uc002gfd.2	-	4	832	c.452T>C	c.(451-453)aTt>aCt	p.I151T	CTDNEP1_uc002gfe.2_Missense_Mutation_p.I151T	NM_001143775	NP_056158	O95476	CNEP1_HUMAN	Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.	151	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTAAGAATGCTTCTGCT	0.498000														89			33		0	0	0.000132358	0	0
RIPK2	8767	broad.mit.edu	37	8	90798839	90798839	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr8:90798839C>G	uc003yee.3	+	8	1362	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	RIPK2_uc003yef.3_Missense_Mutation_p.Q213E	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	350					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGATCCTCTCAGCTCCATGA	0.323000														104			3		0	0	6.4e-05	0	0
FAM60A	58516	broad.mit.edu	37	12	31435663	31435663	+	Missense_Mutation	SNP	A	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:31435663A>C	uc001rkc.3	-	4	966	c.724T>G	c.(724-726)Tcc>Gcc	p.S242A	FAM60A_uc010sjz.2_Missense_Mutation_p.S217A|FAM60A_uc001rkd.3_Missense_Mutation_p.S217A|FAM60A_uc010ska.2_Missense_Mutation_p.S217A|FAM60A_uc001rke.3_Missense_Mutation_p.S217A|FAM60A_uc010skb.2_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	217										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCCTGAGTGGAGATGGGCAGA	0.453000														32			44		0	0	0.000147903	0	0
SP110	3431	broad.mit.edu	37	2	231077477	231077477	+	Splice_Site	SNP	T	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:231077477T>G	uc002vqg.3	-	4	823	c.583_splice	c.e4+1	p.V195_splice	SP110_uc002vqh.3_Splice_Site_p.V195_splice|SP110_uc002vqi.4_Splice_Site_p.V195_splice|SP110_uc010fxk.3_Splice_Site_p.V195_splice|SP110_uc021vxx.1_Splice_Site_p.V201_splice	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	195					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GTTTCTCACCTGAAGTGCTTC	0.532000														107			129		0	0	0.000147903	0	0
SETD4	54093	broad.mit.edu	37	21	37410517	37410517	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr21:37410517C>G	uc002yuw.2	-	8	2492	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	SETD4_uc021wiy.1_Missense_Mutation_p.K373N|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.K349N	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	373				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCAAACTTGTCTTCTCATTCG	0.353000														60			54		0	0	0.000147903	0	0
CPEB3	22849	broad.mit.edu	37	10	93812079	93812079	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr10:93812079A>G	uc001khw.2	-	9	2191	c.1987T>C	c.(1987-1989)Tgt>Cgt	p.C663R	CPEB3_uc001khu.2_Missense_Mutation_p.C672R|CPEB3_uc001khv.2_Missense_Mutation_p.C649R|CPEB3_uc010qnn.2_Missense_Mutation_p.C649R	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	663							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGTATTCACAGTAATACTGC	0.592000														20			16		0	0	0.000308642	0	0
TMEM2	23670	broad.mit.edu	37	9	74313090	74313090	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:74313090G>T	uc011lsa.1	-	19	3948	c.3408C>A	c.(3406-3408)agC>agA	p.S1136R	TMEM2_uc011lrz.1_Missense_Mutation_p.S129R|TMEM2_uc010mos.2_Missense_Mutation_p.S1073R|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1136						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGCCTGTGGCTTTTGGCTT	0.413000														73			39		2.00842e-17	1.15572e-15	8.96297e-05	1	0
IPO8	10526	broad.mit.edu	37	12	30790088	30790088	+	Silent	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:30790088C>G	uc001rjd.3	-	21	2871	c.2523G>C	c.(2521-2523)ctG>ctC	p.L841L	IPO8_uc010sjt.2_Silent_p.L636L|IPO8_uc001rje.1_Silent_p.L330L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	841					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAAGGATACTCAGTCCTATTA	0.393000														41			67		0	0	0.000147903	0	0
MPO	4353	broad.mit.edu	37	17	56348163	56348163	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:56348163A>T	uc002ivu.1	-	11	2269	c.2092T>A	c.(2092-2094)Tca>Aca	p.S698T		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	698					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGGCAATGAGATCTGGGCC	0.547000														26			46		0	0	0.000147903	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322599	4322599	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr4:4322599C>A	uc003ghu.3	+	7	2029	c.1854C>A	c.(1852-1854)tcC>tcA	p.S618S	ZBTB49_uc003ghv.3_Silent_p.S101S|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.S196S	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCTTTCTCCCAAGACACGT	0.547000														17			19		4.96729e-08	2.67647e-06	0.000132079	1	0
KDM4A	9682	broad.mit.edu	37	1	44169937	44169937	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:44169937A>G	uc001cjx.3	+	21	3257	c.3091A>G	c.(3091-3093)Aca>Gca	p.T1031A	LOC100132774_uc001cjy.3_Intron|LOC100132774_uc021omr.1_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.2_3'UTR	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	1031					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAGATTTTCACAGAGAAAGA	0.438000														165			4		0	0	0.00024832	0	0
MMP24	10893	broad.mit.edu	37	20	33851638	33851638	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr20:33851638C>A	uc002xbu.2	+	4	865	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	288					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCACGCGCTGGGACTGGA	0.627000														5			6		1.6384e-10	9.07551e-09	8.12818e-05	1	0
TOPORS	10210	broad.mit.edu	37	9	32541815	32541815	+	Missense_Mutation	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:32541815C>G	uc003zrb.3	-	2	2900	c.2708G>C	c.(2707-2709)cGt>cCt	p.R903P	TOPORS_uc003zrc.3_Missense_Mutation_p.R838P	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	903	Interaction with UBE2I.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AACTGGGGAACGTGAAGCATT	0.368000														90			58		0	0	0.000147903	0	0
CCKAR	886	broad.mit.edu	37	4	26483517	26483517	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr4:26483517C>T	uc003gse.1	-	4	1183	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGCGCTCTGCGGAGGCG	0.592000														36			30		0	0	0.000184323	0	0
EPHB6	2051	broad.mit.edu	37	7	142566068	142566068	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr7:142566068G>C	uc011kst.2	+	13	2775	c.1988G>C	c.(1987-1989)cGg>cCg	p.R663P	EPHB6_uc011ksu.2_Missense_Mutation_p.R663P|EPHB6_uc003wbs.3_Missense_Mutation_p.R371P|EPHB6_uc003wbt.3_Missense_Mutation_p.R137P|EPHB6_uc003wbu.3_Missense_Mutation_p.R371P|EPHB6_uc003wbv.3_Missense_Mutation_p.R47P	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	663						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R648L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAACTTGCCCGGGAAGTCGAT	0.577000														94			3		0	0	6.4e-05	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317979	46317979	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:46317979G>A	uc002pdm.3	-	0	627	c.456C>T	c.(454-456)taC>taT	p.Y152Y		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	152						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCTGTCTGGTAGAGGTTGA	0.602000														33			12		0	0	6.40141e-05	0	0
EP400	57634	broad.mit.edu	37	12	132522561	132522561	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:132522561G>A	uc001ujn.3	+	31	6279	c.6127G>A	c.(6127-6129)Gct>Act	p.A2043T	EP400_uc021rgq.1_Missense_Mutation_p.A2042T|EP400_uc001ujm.3_Missense_Mutation_p.A1962T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2079	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGTCAAAGCTGAGGAGTT	0.463000														148			53		0	0	0.000147903	0	0
GTF2H4	2968	broad.mit.edu	37	6	30877829	30877829	+	Silent	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:30877829C>T	uc003nsa.1	+	3	570	c.363C>T	c.(361-363)gcC>gcT	p.A121A	GTF2H4_uc010jsf.2_Silent_p.A121A|GTF2H4_uc011dmv.1_Silent_p.A65A	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	121					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCGCATTGCCCTTCTGGGTG	0.582000								Nucleotide excision repair (NER)						57			45		0	0	0.000147903	0	0
INTS2	57508	broad.mit.edu	37	17	59981846	59981846	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:59981846G>T	uc002izn.3	-	8	1382	c.1306C>A	c.(1306-1308)Cta>Ata	p.L436I	INTS2_uc002izm.3_Missense_Mutation_p.L428I	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	436					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAGGCCAGTAGCATACAAAAG	0.403000														9			16		4.7546e-09	2.58537e-07	0.000422831	1	0
RPL37A	6168	broad.mit.edu	37	2	217364692	217364692	+	Silent	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:217364692T>A	uc002vgf.3	+	2	231	c.153T>A	c.(151-153)gcT>gcA	p.A51A	RPL37A_uc002vgg.3_Silent_p.A51A	NM_000998	NP_000989	P61513	RL37A_HUMAN	Homo sapiens ribosomal protein L37a (RPL37A), mRNA.	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGACGAGCTGTGGGGATCT	0.443000														62			70		0	0	0.000147903	0	0
SLC6A18	348932	broad.mit.edu	37	5	1225707	1225707	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr5:1225707G>C	uc003jby.2	+	0	238	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	39					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGGACTGGGGAACATTTG	0.642000														19			4		0	0	0.000375601	0	0
ZAN	7455	broad.mit.edu	37	7	100349824	100349824	+	Missense_Mutation	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr7:100349824C>A	uc003uwj.3	+	13	2261	c.2096C>A	c.(2095-2097)tCc>tAc	p.S699Y	ZAN_uc003uwk.3_Missense_Mutation_p.S699Y|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	699	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCATGGAAGAG	0.512000														56			43		2.37825e-27	1.42383e-25	8.96297e-05	1	0
OBSCN	84033	broad.mit.edu	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:228494234G>A	uc009xez.1	+	43	11865	c.11821G>A	c.(11821-11823)Ggc>Agc	p.G3941S	OBSCN_uc001hsn.3_Missense_Mutation_p.G3941S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3941	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632000														21			25		0	0	0.000147802	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055716	72055716	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr14:72055716T>C	uc001xms.3	+	1	1488	c.1127T>C	c.(1126-1128)cTg>cCg	p.L376P	SIPA1L1_uc001xmt.3_Missense_Mutation_p.L376P|SIPA1L1_uc001xmu.3_Missense_Mutation_p.L376P|SIPA1L1_uc001xmv.3_Missense_Mutation_p.L376P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	376					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCTGGACCTCTGTCTCATTCA	0.498000														38			20		0	0	0.000295444	0	0
PSMD8	5714	broad.mit.edu	37	19	38874011	38874011	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:38874011A>G	uc002oii.4	+	6	1086	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R		NM_002812	NP_002803	P48556	PSMD8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 (PSMD8), mRNA.	345					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGCCCGGCAGCTGGAGATG	0.557000														15			7		0	0	0.000157383	0	0
PLRG1	5356	broad.mit.edu	37	4	155470082	155470082	+	Silent	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr4:155470082T>C	uc003iny.3	-	1	140	c.15A>G	c.(13-15)gtA>gtG	p.V5V	PLRG1_uc003inz.3_Silent_p.V5V|PLRG1_uc011cil.2_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	5						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTTTCTGTACCTCCTAAA	0.353000														18			11		0	0	3.86212e-05	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133692538	133692538	+	Silent	SNP	G	C	C	rs150677069		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:133692538G>C	uc003eqa.4	-	2	640	c.366C>G	c.(364-366)tcC>tcG	p.S122S	SLCO2A1_uc011blv.2_Silent_p.S122S|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	122					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTAGGGCTCGGAGAGGAAGT	0.582000														19			8		0	0	0.000274275	0	0
CASC3	22794	broad.mit.edu	37	17	38319005	38319005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:38319005G>A	uc010cwt.1	+	5	931	c.636G>A	c.(634-636)tgG>tgA	p.W212*	CASC3_uc010cws.1_Nonsense_Mutation_p.W212*|CASC3_uc002hue.3_Nonsense_Mutation_p.W212*	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	212	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAAAGCTATGGAAGGATGAGG	0.493000														39			12		0	0	6.40141e-05	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390027	101390027	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:101390027A>G	uc003dve.4	-	2	955	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	242	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCAATAAAAAGATCTCGAAA	0.363000														58			24		0	0	5.49717e-05	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055734	72055734	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr14:72055734T>A	uc001xms.3	+	1	1506	c.1145T>A	c.(1144-1146)tTt>tAt	p.F382Y	SIPA1L1_uc001xmt.3_Missense_Mutation_p.F382Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.F382Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.F382Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	382					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGCCAGTTTTAGCTCCCCA	0.507000														34			17		0	0	5.01169e-05	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009021	61009021	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:61009021T>C	uc002sai.3	+	11	1156	c.907_splice	c.e11-1	p.V303_splice	PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site|PAPOLG_uc010fch.3_Splice_Site	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	303					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTTCACAGGTAAATCCATCA	0.358000														116			3		0	0	0.00024832	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226699	204226699	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:204226699C>T	uc001hau.3	-	8	1623	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	PLEKHA6_uc009xaw.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xax.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xay.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xaz.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xba.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xbb.1_Missense_Mutation_p.E60K|PLEKHA6_uc009xbc.1_Missense_Mutation_p.E60K	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	436										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCATCCAGCTCATCATAATAG	0.687000														6			9		0	0	6.40141e-05	0	0
EP400	57634	broad.mit.edu	37	12	132522562	132522562	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:132522562C>T	uc001ujn.3	+	31	6280	c.6128C>T	c.(6127-6129)gCt>gTt	p.A2043V	EP400_uc021rgq.1_Missense_Mutation_p.A2042V|EP400_uc001ujm.3_Missense_Mutation_p.A1962V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2079	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGGTCAAAGCTGAGGAGTTT	0.463000														149			51		0	0	0.000147903	0	0
LOC81691	81691	broad.mit.edu	37	16	20851091	20851091	+	Silent	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr16:20851091C>T	uc002dhy.4	+	13	1773	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Silent_p.A466A|LOC81691_uc002dhx.3_Silent_p.A466A	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	466						nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TTGAGCAGGCCAGAGTGGAAA	0.448000														149			242		0	0	0.000147903	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														8			5		0	0	1.23904e-05	0	0
ARID1B	57492	broad.mit.edu	37	6	157527600	157527600	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:157527600G>A	uc003qqp.3	+	18	5286	c.5286G>A	c.(5284-5286)aaG>aaA	p.K1762K	ARID1B_uc003qqo.3_Silent_p.K1775K|ARID1B_uc003qqn.3_Silent_p.K1815K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1762					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACCCAAAGGAGAAGCCCA	0.517000														60			40		0	0	0.000228196	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3648675	3648675	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:3648675C>T	uc002lyj.2	-	8	1248	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	PIP5K1C_uc010xhq.2_Missense_Mutation_p.G387R|PIP5K1C_uc010xhr.2_Missense_Mutation_p.G387R	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	387	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCGCTCCCCGCGGCCGTTC	0.692000														17			20		0	0	0.000295444	0	0
NRIP1	8204	broad.mit.edu	37	21	16338944	16338944	+	Missense_Mutation	SNP	T	C	C	rs149069507	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr21:16338944T>C	uc021whl.1	-	0	1570	c.1570A>G	c.(1570-1572)Aat>Gat	p.N524D	NRIP1_uc002yjx.2_Missense_Mutation_p.N524D	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	524	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTCACATCATTGTGTACTCCC	0.403000														137			93		0	0	0.000147903	0	0
VCP	7415	broad.mit.edu	37	9	35061057	35061057	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:35061057A>G	uc003zvy.2	-	10	1703	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D	VCP_uc010mkh.1_Silent_p.D107D|VCP_uc010mki.1_Silent_p.D393D	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	438					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACCTCGGCATCAATGGTCT	0.537000														108			111		0	0	0.000147903	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049869	47049869	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:47049869G>A	uc003cqp.3	+	50	7995	c.7816G>A	c.(7816-7818)Gca>Aca	p.A2606T	NBEAL2_uc010hjm.2_Missense_Mutation_p.A1983T|NBEAL2_uc010hjn.2_Missense_Mutation_p.A972T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2606							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTTCCACCTGGCATTGGGGTC	0.597000														15			23		0	0	0.000295444	0	0
MAP4K4	9448	broad.mit.edu	37	2	102493544	102493544	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:102493544C>A	uc002tbc.3	+	25	3507	c.3129C>A	c.(3127-3129)atC>atA	p.I1043I	MAP4K4_uc002tbf.3_Silent_p.I996I|MAP4K4_uc002tbd.3_Silent_p.I935I|MAP4K4_uc010yvy.2_Silent_p.I958I|MAP4K4_uc002tbh.3_Silent_p.I880I|MAP4K4_uc002tbg.3_Silent_p.I962I|MAP4K4_uc002tbi.3_Silent_p.I765I|MAP4K4_uc010yvz.2_Silent_p.I1002I|MAP4K4_uc002tbk.3_Silent_p.I417I|MAP4K4_uc021vlq.1_Silent_p.I148I|MAP4K4_uc002tbl.3_Silent_p.I148I	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	962	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCCTCTTATCAACCGAAGAC	0.453000														31			49		9.58827e-17	5.46439e-15	0.000147903	1	0
DCTN1	1639	broad.mit.edu	37	2	74597431	74597431	+	Missense_Mutation	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:74597431T>A	uc002skx.3	-	11	1487	c.1169A>T	c.(1168-1170)aAg>aTg	p.K390M	DCTN1_uc002skv.3_Missense_Mutation_p.K256M|DCTN1_uc002sku.3_Missense_Mutation_p.K256M|DCTN1_uc002skw.2_Missense_Mutation_p.K383M|DCTN1_uc010ffd.3_Missense_Mutation_p.K370M|DCTN1_uc002sky.3_Missense_Mutation_p.K353M	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	390					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTCTGGAGCTTCACATGCTC	0.547000														41			19		0	0	0.000175454	0	0
AK302879	0	broad.mit.edu	37	15	76074693	76074693	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr15:76074693C>T	uc010umm.1	+	8	765	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AGAGAGGGCCCGGTGGCAGGA	0.483000														32			35		0	0	0.000106405	0	0
HMG20A	10363	broad.mit.edu	37	15	77756662	77756662	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr15:77756662A>G	uc002bcr.3	+	3	371	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	HMG20A_uc002bcq.1_Missense_Mutation_p.Q57R|HMG20A_uc002bcs.3_Missense_Mutation_p.Q57R	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	57					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GATCTCTCTCAAGGTCAGTTG	0.448000														43			32		0	0	7.24521e-05	0	0
SCUBE3	222663	broad.mit.edu	37	6	35199528	35199528	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:35199528G>T	uc003okf.1	+	3	367	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SCUBE3_uc003okg.1_Missense_Mutation_p.G121C|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	121	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGAGGGCAACGGCGGCTGTCA	0.582000														18			16		1.02788e-11	5.74742e-10	5.01169e-05	1	0
ANKK1	255239	broad.mit.edu	37	11	113270078	113270078	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr11:113270078A>G	uc001pny.3	+	7	1481	c.1387A>G	c.(1387-1389)Acc>Gcc	p.T463A		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	463							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGAAGGGTGGACCCCTCTTCA	0.622000														6			3		0	0	6.4e-05	0	0
UPP2	151531	broad.mit.edu	37	2	158971732	158971732	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:158971732A>G	uc002tzo.3	+	4	491	c.471A>G	c.(469-471)agA>agG	p.R157R	UPP2_uc002tzp.3_Silent_p.R100R	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	100				T -> R (in Ref. 1; AAO61681).	nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GGACAGACAGATACTGTATGT	0.458000														74			33		0	0	7.24521e-05	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377390	68377390	+	Silent	SNP	T	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr11:68377390T>A	uc001onv.3	+	23	2754	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	PPP6R3_uc001onw.3_Silent_p.S823S|PPP6R3_uc001ony.4_Silent_p.S794S|PPP6R3_uc001onx.3_Silent_p.S817S|PPP6R3_uc009ysh.3_Silent_p.S743S|PPP6R3_uc001onu.3_Silent_p.S743S|PPP6R3_uc010rqc.2_Silent_p.S591S|PPP6R3_uc010rqd.2_Silent_p.S506S|PPP6R3_uc001onz.3_Silent_p.S151S|PPP6R3_uc001ooa.3_Silent_p.S279S	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	823					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAACTGTCTACCTCTCAAG	0.577000														64			51		0	0	0.000147903	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467233	44467233	+	Silent	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:44467233G>C	uc001cll.3	-	8	1440	c.1248C>G	c.(1246-1248)tcC>tcG	p.S416S	SLC6A9_uc009vxe.2_Silent_p.S272S|SLC6A9_uc010okm.1_Silent_p.S343S|SLC6A9_uc001clm.3_Silent_p.S362S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S347S|SLC6A9_uc010oko.2_Silent_p.S232S|SLC6A9_uc001cln.3_Silent_p.S343S|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	416						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGCCGAGGATGGAGAAGATGA	0.597000														99			4		0	0	0.00024832	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714066	32714066	+	Silent	SNP	C	T	T	rs143176293		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:32714066C>T	uc003obx.3	+	3	721	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	221					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGGTCTGCGCCCTGGGGT	0.552000														70			62		0	0	0.000147903	0	0
KNDC1	85442	broad.mit.edu	37	10	135012252	135012252	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr10:135012252G>C	uc001llz.1	+	13	2241	c.2240G>C	c.(2239-2241)gGg>gCg	p.G747A	KNDC1_uc001lma.1_Missense_Mutation_p.G682A|KNDC1_uc001lmb.1_Missense_Mutation_p.G159A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	747	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCTCTTGGGGCGTCAGTG	0.726000														2			3		0	0	6.4e-05	0	0
KCNH1	3756	broad.mit.edu	37	1	211192165	211192165	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:211192165G>A	uc001hib.2	-	5	1162	c.992C>T	c.(991-993)gCt>gTt	p.A331V	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	331					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCTGATCAGCAAAACCAAT	0.448000														90			47		0	0	0.000147903	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336447	104336447	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:104336447T>C	uc001tkb.1	+	11	1622	c.1517T>C	c.(1516-1518)cTt>cCt	p.L506P	HSP90B1_uc010swg.1_Missense_Mutation_p.L171P|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	506					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGAACACGTCTTGCTAAACTT	0.373000														51			79		0	0	0.000147903	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146121	194146121	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:194146121G>A	uc003fty.4	-	28	3665	c.3263C>T	c.(3262-3264)gCa>gTa	p.A1088V	ATP13A3_uc003ftx.4_5'UTR	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1088					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGGCAATTGCCACTATGAG	0.353000														40			47		0	0	0.000147903	0	0
APBA3	9546	broad.mit.edu	37	19	3760228	3760228	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:3760228C>T	uc002lyp.1	-	1	212	c.35G>A	c.(34-36)gGg>gAg	p.G12E	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	12					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622000														11			8		0	0	0.000157383	0	0
SPATA17	128153	broad.mit.edu	37	1	217975148	217975148	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:217975148G>T	uc001hlh.1	+	8	987	c.961G>T	c.(961-963)Gaa>Taa	p.E321*		NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	321						cytoplasm	calmodulin binding	p.E321Q(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294000														29			24		4.4004e-07	2.34966e-05	5.49717e-05	1	0
CDC5L	988	broad.mit.edu	37	6	44390515	44390515	+	Missense_Mutation	SNP	A	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:44390515A>T	uc003oxl.3	+	9	1683	c.1373A>T	c.(1372-1374)gAc>gTc	p.D458V		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	458	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAATGGCAGACTATAGTGAT	0.383000														72			56		0	0	0.000147903	0	0
CERK	64781	broad.mit.edu	37	22	47108141	47108141	+	Missense_Mutation	SNP	T	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr22:47108141T>G	uc003bia.3	-	3	536	c.429A>C	c.(427-429)aaA>aaC	p.K143N	CERK_uc010hae.3_5'UTR	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	143	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.G142*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCCTTGTCCTTTTCCTCCAA	0.388000														36			19		0	0	0.000295444	0	0
SFMBT1	51460	broad.mit.edu	37	3	52988412	52988412	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:52988412A>G	uc003dgf.3	-	3	667	c.44T>C	c.(43-45)aTg>aCg	p.M15T	SFMBT1_uc003dgg.3_Missense_Mutation_p.M15T|SFMBT1_uc003dgh.3_Missense_Mutation_p.M15T	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	15					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TACCTCTTCCATACCAGAGCC	0.333000														74			105		0	0	0.000147903	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72503320	72503320	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr10:72503320G>T	uc001jrg.3	+	12	1950	c.1950G>T	c.(1948-1950)gaG>gaT	p.E650D	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E647D|ADAMTS14_uc001jri.1_Missense_Mutation_p.E170D	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	647	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAAGTGTGAGCTGATCTGCC	0.597000														25			15		6.81908e-15	3.84921e-13	0.000219431	1	0
VARS2	57176	broad.mit.edu	37	6	30883015	30883015	+	Splice_Site	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:30883015G>A	uc011dmz.2	+	3	454	c.373_splice	c.e3+1	p.D125_splice	VARS2_uc003nsc.2_Splice_Site_p.D95_splice|VARS2_uc003nsd.3_Splice_Site_p.D95_splice|VARS2_uc011dmx.2_Splice_Site_p.D95_splice|VARS2_uc011dmy.2_Splice_Site|VARS2_uc011dna.2_Splice_Site_p.D95_splice|VARS2_uc011dnb.2_Splice_Site|VARS2_uc011dnc.2_Splice_Site	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	95					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GAAAAGAAAGGTAAGTAGAAT	0.453000														40			45		0	0	0.000437636	0	0
FABP12	646486	broad.mit.edu	37	8	82441686	82441686	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr8:82441686C>T	uc011lfp.2	-	1	233	c.233G>A	c.(232-234)gGc>gAc	p.G78D	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	78							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TGTTTTGTGGCCACCTGGCGT	0.388000														108			70		0	0	0.000147903	0	0
PSMB4	5692	broad.mit.edu	37	1	151372078	151372078	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:151372078G>A	uc001eyc.1	+	0	38	c.15G>A	c.(13-15)ttG>ttA	p.L5L	PSMB4_uc010pda.2_Silent_p.L5L	NM_002796	NP_002787	P28070	PSB4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 4 (PSMB4), mRNA.	5					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCGTTTTTGGGGTCGCGGT	0.542000														59			41		0	0	0.000147903	0	0
SYNE1	23345	broad.mit.edu	37	6	152671451	152671451	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:152671451T>C	uc021zhb.1	-	69	11976	c.11753A>G	c.(11752-11754)gAg>gGg	p.E3918G	SYNE1_uc003qot.4_Intron|SYNE1_uc003qou.4_Missense_Mutation_p.E3918G|SYNE1_uc010kja.2_Missense_Mutation_p.E623G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3918					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			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)		GACTTTCGCCTCCAGACTGAA	0.473000										HNSCC(10;0.0054)				48			18		0	0	0.000175454	0	0
ZNF180	7733	broad.mit.edu	37	19	44981073	44981073	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:44981073G>C	uc002ozf.4	-	4	1907	c.1625C>G	c.(1624-1626)aCt>aGt	p.T542S	ZNF180_uc002ozh.4_Missense_Mutation_p.T199S|ZNF180_uc002ozi.4_Missense_Mutation_p.T515S|ZNF180_uc002ozg.4_Missense_Mutation_p.T541S|ZNF180_uc010ejm.3_Missense_Mutation_p.T517S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R541I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGTGTGAGTTCTTTGATG	0.423000														48			29		0	0	0.000184323	0	0
PTPRD	5789	broad.mit.edu	37	9	8471073	8471073	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:8471073T>C	uc003zkk.3	-	30	4169	c.3426A>G	c.(3424-3426)atA>atG	p.I1142M	PTPRD_uc003zkp.3_Missense_Mutation_p.I731M|PTPRD_uc003zkq.3_Missense_Mutation_p.I731M|PTPRD_uc003zkr.3_Missense_Mutation_p.I726M|PTPRD_uc003zks.3_Missense_Mutation_p.I721M|PTPRD_uc022bdj.1_Missense_Mutation_p.I728M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1142					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCACAATTATTATGTAGTAAC	0.393000										TSP Lung(15;0.13)				52			48		0	0	0.000147903	0	0
PEX5	5830	broad.mit.edu	37	12	7343122	7343122	+	Splice_Site	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:7343122T>C	uc009zfu.2	+	3	727	c.147_splice	c.e3+2	p.A49_splice	PEX5_uc001qsw.3_Splice_Site_p.A49_splice|PEX5_uc010sgc.2_Missense_Mutation_p.V50A|PEX5_uc001qsu.3_Splice_Site_p.A49_splice|PEX5_uc010sgd.2_Splice_Site_p.A70_splice|PEX5_uc001qsv.3_Splice_Site_p.A49_splice	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	49					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCTGAGGCAGTGAGTGTTCTT	0.632000														10			10		0	0	3.86212e-05	0	0
LRIG1	26018	broad.mit.edu	37	3	66460690	66460690	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:66460690C>A	uc003dmx.3	-	6	812	c.798G>T	c.(796-798)ctG>ctT	p.L266L	LRIG1_uc010hnz.3_Silent_p.L6L|LRIG1_uc010hoa.3_Silent_p.L266L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	266						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGTTGTACTCCAGGTGCCTGC	0.567000														236			8		0.000157383	0.00825496	0.000157383	1	0
THBS1	7057	broad.mit.edu	37	15	39885267	39885267	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr15:39885267T>C	uc001zkh.3	+	17	3013	c.2834T>C	c.(2833-2835)aTc>aCc	p.I945T	THBS1_uc010bbi.3_Missense_Mutation_p.I417T	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	945					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATCGATGACATCTGTCCTGAG	0.478000														30			25		0	0	0.000184323	0	0
ANXA3	306	broad.mit.edu	37	4	79516549	79516549	+	Silent	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr4:79516549A>G	uc003hld.3	+	7	808	c.498A>G	c.(496-498)gaA>gaG	p.E166E		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	166					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAAGAGATGAAAGTCTGAAAG	0.443000														127			71		0	0	0.000147903	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800245	34800245	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr20:34800245A>G	uc010gfq.3	+	5	2791	c.2428A>G	c.(2428-2430)Att>Gtt	p.I810V	EPB41L1_uc002xeu.3_Missense_Mutation_p.I637V|EPB41L1_uc010zvo.1_Missense_Mutation_p.I711V|EPB41L1_uc002xev.3_Missense_Mutation_p.I711V|EPB41L1_uc002xew.3_Missense_Mutation_p.I602V|EPB41L1_uc002xex.3_Missense_Mutation_p.I531V|EPB41L1_uc002xey.3_Missense_Mutation_p.I489V|EPB41L1_uc002xez.3_Missense_Mutation_p.I637V|EPB41L1_uc002xfb.3_Missense_Mutation_p.I711V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	711	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TAGAAAGAAGATTGAGCCGGA	0.493000														52			26		0	0	0.000184323	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269265	1269265	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:1269265G>A	uc010nyk.2	+	5	1980	c.1980G>A	c.(1978-1980)gtG>gtA	p.V660V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	660					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	AGATCTTCGTGGAGTCAGAAC	0.697000														20			8		0	0	0.000274275	0	0
RRNAD1	51093	broad.mit.edu	37	1	156705540	156705540	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:156705540G>A	uc001fpu.3	+	6	1779	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	RRNAD1_uc001fpv.3_Silent_p.A220A	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	382						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGGCTACAGCGAGTGGGGCTA	0.547000														31			28		0	0	7.24521e-05	0	0
CHD1	1105	broad.mit.edu	37	5	98236974	98236974	+	Missense_Mutation	SNP	T	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr5:98236974T>C	uc003knf.3	-	4	651	c.503A>G	c.(502-504)gAa>gGa	p.E168G		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	168					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTCTCTCTCTTCTTCAGATTC	0.358000														64			60		0	0	0.000147903	0	0
TTN	7273	broad.mit.edu	37	2	179468605	179468605	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:179468605A>G	uc021vsy.1	-	230	47330	c.47105T>C	c.(47104-47106)aTa>aCa	p.I15702T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I9397T|TTN_uc021vta.1_Missense_Mutation_p.I9330T|TTN_uc021vtb.1_Missense_Mutation_p.I9205T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16629	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTACATATGGGATCTCC	0.398000														50			25		0	0	5.49717e-05	0	0
NICN1	84276	broad.mit.edu	37	3	49463424	49463424	+	Silent	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr3:49463424C>G	uc003cwz.1	-	2	400	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Intron	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	105						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCATGTCACACAGCATCTGAC	0.567000														23			11		0	0	6.40141e-05	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708962	36708962	+	Splice_Site	SNP	C	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:36708962C>G	uc002hqd.3	-	12	2557	c.2332_splice	c.e12+1	p.A778_splice	SRCIN1_uc002hqf.1_Splice_Site_p.A650_splice|SRCIN1_uc002hqe.2_Splice_Site_p.A632_splice|SRCIN1_uc002hqg.3_Splice_Site_p.A84_splice	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	650					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CAGACCCACCCTTGAGCTCTG	0.632000														48			26		0	0	0.000184323	0	0
NCOR1	9611	broad.mit.edu	37	17	16089949	16089949	+	Nonsense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr17:16089949G>C	uc002gpo.3	-	2	430	c.161C>G	c.(160-162)tCa>tGa	p.S54*	NCOR1_uc002gpn.3_Nonsense_Mutation_p.S54*|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.3_Intron|NCOR1_uc002gps.2_Nonsense_Mutation_p.S54*|NCOR1_uc010cpb.2_Nonsense_Mutation_p.S54*|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Nonsense_Mutation_p.S54*|NCOR1_uc002gpu.3_Nonsense_Mutation_p.S54*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	54	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAAAGCTGTGATGCCTGACT	0.403000														57			28		0	0	0.000117367	0	0
FGGY	55277	broad.mit.edu	37	1	59812021	59812021	+	Missense_Mutation	SNP	G	C	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:59812021G>C	uc009wac.3	+	3	628	c.416G>C	c.(415-417)gGg>gCg	p.G139A	FGGY_uc001czg.2_Missense_Mutation_p.G27A|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.G139A|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	139					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.G139V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TACGTCGGGGGGGTGATGTCT	0.502000														41			3		0	0	0.00024832	0	0
LILRB3	11025	broad.mit.edu	37	19	54803120	54803120	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:54803120G>T	uc002qfd.3	-	3	649	c.557C>A	c.(556-558)cCc>cAc	p.P186H	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	185	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTCACGGGGCCCACGGA	0.587000														51			36		4.62619e-21	2.71479e-19	0.000132358	1	0
HARBI1	283254	broad.mit.edu	37	11	46637368	46637368	+	Silent	SNP	C	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr11:46637368C>A	uc001ncy.3	-	1	668	c.420G>T	c.(418-420)ggG>ggT	p.G140G	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	140						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCCCTGGCATCCCTGCCAACC	0.512000														117			63		7.1157e-29	4.30354e-27	0.000147903	1	0
PAPPA	5069	broad.mit.edu	37	9	118949550	118949550	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:118949550G>T	uc004bjn.3	+	1	914	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	178					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGACAGACCGAGCCCGGCAA	0.532000														39			26		2.79863e-10	1.53588e-08	9.22233e-05	1	0
NALCN	259232	broad.mit.edu	37	13	101944368	101944368	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr13:101944368G>T	uc001vox.1	-	8	1209	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	NALCN_uc001voy.3_Missense_Mutation_p.S55R|NALCN_uc001voz.2_Missense_Mutation_p.S340R|NALCN_uc001vpa.2_Missense_Mutation_p.S340R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	340						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTAGTGCTGCTTCTCGATC	0.438000														17			26		5.77227e-19	3.35414e-17	0.000227799	1	0
EPB42	2038	broad.mit.edu	37	15	43508525	43508525	+	Missense_Mutation	SNP	C	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr15:43508525C>T	uc001zrb.4	-	1	527	c.227G>A	c.(226-228)cGc>cAc	p.R76H	EPB42_uc001zra.4_Missense_Mutation_p.R46H|EPB42_uc010udm.2_Missense_Mutation_p.R46H	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	46					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GACTGGAGCGCGGAAGTACAG	0.597000														34			26		0	0	0.000184323	0	0
ANGPT2	285	broad.mit.edu	37	8	6360731	6360731	+	Missense_Mutation	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr8:6360731G>T	uc003wqj.4	-	8	1711	c.1382C>A	c.(1381-1383)cCa>cAa	p.P461Q	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.P460Q|ANGPT2_uc010lri.3_Missense_Mutation_p.P409Q	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	461	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTGCCTCTGTGGATAGTACAT	0.463000														34			22		2.27731e-05	0.00120514	0.000229342	1	0
TMEM120A	83862	broad.mit.edu	37	7	75617587	75617587	+	Silent	SNP	G	T	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr7:75617587G>T	uc003ued.3	-	6	647	c.543C>A	c.(541-543)ctC>ctA	p.L181L	TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Silent_p.L86L|TMEM120A_uc022agl.1_Silent_p.L86L	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	182						integral to membrane											CGTTGTTGATGAGGATGCTCT	0.657000														53			36		6.03168e-27	3.57498e-25	0.000159656	1	0
BIN3	55909	broad.mit.edu	37	8	22488017	22488017	+	Silent	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr8:22488017G>A	uc003xcl.3	-	4	332	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	BIN3_uc010ltw.3_Silent_p.L25L	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	79	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACCATGTTCAGAAGGTCCTGG	0.532000														82			58		0	0	0.000147903	0	0
NPEPL1	79716	broad.mit.edu	37	20	57276200	57276200	+	Missense_Mutation	SNP	A	G	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr20:57276200A>G	uc010zzs.1	+	5	903	c.808A>G	c.(808-810)Agc>Ggc	p.S270G	NPEPL1_uc010zzr.2_Missense_Mutation_p.S222G|NPEPL1_uc010gjo.2_Missense_Mutation_p.S242G|NPEPL1_uc002xzp.3_Missense_Mutation_p.S158G	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	270					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGAGGCCTCAGCATCAAAGG	0.687000														3			4		0	0	0.00024832	0	0
FAM123B	139285	broad.mit.edu	37	X	63411696	63411696	+	Missense_Mutation	SNP	G	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chrX:63411696G>A	uc022byb.1	-	0	1471	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	FAM123B_uc004dvo.3_Missense_Mutation_p.R491C	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	491					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CAATCCCTGCGGACAAGCCCC	0.522000														4			16		0	0	9.7654e-05	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151821	151151821	+	Missense_Mutation	SNP	C	T	T	rs138970683	by1000genomes	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr6:151151821C>T	uc011eem.1	+	14	1839	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A565V|PLEKHG1_uc003qny.1_Missense_Mutation_p.A525V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A525V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	525					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R584H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTGCTTCGAGCGGGTGGAGCT	0.547000														22			11		0	0	3.86212e-05	0	0
PCSK1	5122	broad.mit.edu	37	5	95728748	95728748	+	Missense_Mutation	SNP	C	T	T	rs140941383		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr5:95728748C>T	uc003kls.2	-	13	2458	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R430Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R693Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	740	Amphipathic (Potential).				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGAAGCAGCCGGTCGTCTCT	0.398000														112			91		0	0	0.000147903	0	0
UBR4	23352	broad.mit.edu	37	1	19448476	19448477	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:19448476_19448477insA	uc001bbi.3	-	66	9850_9851	c.9846_9847insT	c.(9844-9849)attgccfs	p.I3282fs	UBR4_uc001bbk.1_Frame_Shift_Ins_p.I929fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3282					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.A3283V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGCTGGGCGGCAATCTCTGCAC	0.485													---	45	---	---	30	---					
PRPF40A	55660	broad.mit.edu	37	2	153573856	153573857	+	Frame_Shift_Ins	INS	-	CCATTTCA	CCATTTCA			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:153573856_153573857insCCATTTCA	uc002tyi.2	-	0	65_66	c.52_53insTGAAATGG	c.(52-54)gagfs	p.E18fs	ARL6IP6_uc002tyn.3_5'Flank|ARL6IP6_uc002tym.3_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.4_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Frame_Shift_Ins_p.E18fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	18					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AGGATGGCTCTCCATTTCACTC	0.663													---	51	---	---	12	---					
CDK13	8621	broad.mit.edu	37	7	40117701	40117701	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:40117701delT	uc003thh.4	+	9	3160	c.2878delT	c.(2878-2880)ttafs	p.L960fs	CDK13_uc003thi.4_Frame_Shift_Del_p.L960fs|CDK13_uc003thj.3_Frame_Shift_Del_p.L11fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	960	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCGTCGAAAGTTAAGAGAAGA	0.348													---	75	---	---	64	---					
RHPN1	114822	broad.mit.edu	37	8	144462787	144462787	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:144462787delG	uc003yyb.3	+	10	1378	c.1245delG	c.(1243-1245)ctgfs	p.L415fs		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	440	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGCCATCCTGGGGCAGGAGG	0.697													---	4	---	---	2	---					
PRKACG	5568	broad.mit.edu	37	9	71629038	71629039	+	Splice_Site	INS	-	GCGGCG	GCGGCG			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:71629038_71629039insGCGGCG	uc004agy.3	-	1	1	c.-30_splice	c.e1-1			NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						gcgggggtctcgcggcggcggc	0.752													---	9	---	---	4	---					
RRP12	23223	broad.mit.edu	37	10	99120314	99120314	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:99120314delG	uc001knf.3	-	30	3768	c.3629delC	c.(3628-3630)cctfs	p.P1210fs	RRP12_uc001kne.3_Frame_Shift_Del_p.P225fs|RRP12_uc009xvl.3_Frame_Shift_Del_p.P327fs|RRP12_uc009xvm.3_Frame_Shift_Del_p.P928fs|RRP12_uc010qou.2_Frame_Shift_Del_p.P1149fs|RRP12_uc009xvn.3_Frame_Shift_Del_p.P1110fs	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1210						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGGTACTGAGGGGGTATCTC	0.557													---	43	---	---	39	---					
SCN8A	6334	broad.mit.edu	37	12	52145329	52145329	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:52145329delC	uc001ryw.3	+	13	2500	c.2322delC	c.(2320-2322)cacfs	p.H774fs	SCN8A_uc010snl.2_Frame_Shift_Del_p.H774fs|SCN8A_uc001ryy.2_Frame_Shift_Del_p.H639fs	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	774					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAATGGAGCACCATCCTATGA	0.418													---	74	---	---	36	---					
TMPO	7112	broad.mit.edu	37	12	98941479	98941479	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:98941479delA	uc001tfj.3	+	8	1503	c.1208delA	c.(1207-1209)gaafs	p.E403fs	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Frame_Shift_Del_p.E294fs	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	403	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAAGTCAGAAAAGACAAAA	0.408													---	62	---	---	47	---					
SRRM4	84530	broad.mit.edu	37	12	119568567	119568567	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:119568567delC	uc001txa.2	+	7	1087	c.699delC	c.(697-699)agcfs	p.S233fs		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	233	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCAAGGACAGCCCTGAGGCCC	0.657													---	31	---	---	9	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:99641544_99641546delCTC	uc001yga.3	-	3	1894_1896	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_uc001ygb.3_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	543	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								---	4	---	---	3	---					
LENG8	114823	broad.mit.edu	37	19	54963430	54963444	+	In_Frame_Del	DEL	GTGGCCAGTGCACAG	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:54963430_54963444delGTGGCCAGTGCACAG	uc002qfv.1	+	2	343_357	c.199_213delGTGGCCAGTGCACAG	c.(199-213)gtggccagtgcacagdel	p.VASAQ67del	LENG8_uc002qfw.2_In_Frame_Del_p.VASAQ67del			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	67							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAATGGGCCTGTGGCCAGTGCACAGGTGAGAAGGC	0.642													---	19	---	---	9	---					
BMP15	9210	broad.mit.edu	37	X	50654047	50654047	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrX:50654047delC	uc011mnw.2	+	0	313	c.264delC	c.(262-264)cgcfs	p.R88fs		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	88					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R88H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAGAGAACCGCACCATTGGGG	0.592													---	4	---	---	2	---					
UBR4	23352	broad.mit.edu	37	1	19448476	19448477	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:19448476_19448477insA	uc001bbi.3	-	66	9850_9851	c.9846_9847insT	c.(9844-9849)attgccfs	p.I3282fs	UBR4_uc001bbk.1_Frame_Shift_Ins_p.I929fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3282					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.A3283V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGCTGGGCGGCAATCTCTGCAC	0.485													---	45	---	---	30	---					
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	4	---	---	3	---					
PRPF40A	55660	broad.mit.edu	37	2	153573856	153573857	+	Frame_Shift_Ins	INS	-	CCATTTCA	CCATTTCA			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr2:153573856_153573857insCCATTTCA	uc002tyi.2	-	0	65_66	c.52_53insTGAAATGG	c.(52-54)gagfs	p.E18fs	ARL6IP6_uc002tyn.3_5'Flank|ARL6IP6_uc002tym.3_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.4_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Frame_Shift_Ins_p.E18fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	18					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AGGATGGCTCTCCATTTCACTC	0.663													---	51	---	---	12	---					
CDK13	8621	broad.mit.edu	37	7	40117701	40117701	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr7:40117701delT	uc003thh.4	+	9	3160	c.2878delT	c.(2878-2880)ttafs	p.L960fs	CDK13_uc003thi.4_Frame_Shift_Del_p.L960fs|CDK13_uc003thj.3_Frame_Shift_Del_p.L11fs	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	960	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCGTCGAAAGTTAAGAGAAGA	0.348													---	75	---	---	64	---					
RHPN1	114822	broad.mit.edu	37	8	144462787	144462787	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr8:144462787delG	uc003yyb.3	+	10	1378	c.1245delG	c.(1243-1245)ctgfs	p.L415fs		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	440	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGCCATCCTGGGGCAGGAGG	0.697													---	4	---	---	2	---					
PRKACG	5568	broad.mit.edu	37	9	71629038	71629039	+	Splice_Site	INS	-	GCGGCG	GCGGCG			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr9:71629038_71629039insGCGGCG	uc004agy.3	-	1	1	c.-30_splice	c.e1-1			NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						gcgggggtctcgcggcggcggc	0.752													---	9	---	---	4	---					
RRP12	23223	broad.mit.edu	37	10	99120314	99120314	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr10:99120314delG	uc001knf.3	-	30	3768	c.3629delC	c.(3628-3630)cctfs	p.P1210fs	RRP12_uc001kne.3_Frame_Shift_Del_p.P225fs|RRP12_uc009xvl.3_Frame_Shift_Del_p.P327fs|RRP12_uc009xvm.3_Frame_Shift_Del_p.P928fs|RRP12_uc010qou.2_Frame_Shift_Del_p.P1149fs|RRP12_uc009xvn.3_Frame_Shift_Del_p.P1110fs	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1210						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGGTACTGAGGGGGTATCTC	0.557													---	43	---	---	39	---					
SCN8A	6334	broad.mit.edu	37	12	52145329	52145329	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:52145329delC	uc001ryw.3	+	13	2500	c.2322delC	c.(2320-2322)cacfs	p.H774fs	SCN8A_uc010snl.2_Frame_Shift_Del_p.H774fs|SCN8A_uc001ryy.2_Frame_Shift_Del_p.H639fs	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	774					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAATGGAGCACCATCCTATGA	0.418													---	74	---	---	36	---					
TMPO	7112	broad.mit.edu	37	12	98941479	98941479	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:98941479delA	uc001tfj.3	+	8	1503	c.1208delA	c.(1207-1209)gaafs	p.E403fs	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Frame_Shift_Del_p.E294fs	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	403	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAAGTCAGAAAAGACAAAA	0.408													---	62	---	---	47	---					
SRRM4	84530	broad.mit.edu	37	12	119568567	119568567	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr12:119568567delC	uc001txa.2	+	7	1087	c.699delC	c.(697-699)agcfs	p.S233fs		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	233	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCAAGGACAGCCCTGAGGCCC	0.657													---	31	---	---	9	---					
LENG8	114823	broad.mit.edu	37	19	54963430	54963444	+	In_Frame_Del	DEL	GTGGCCAGTGCACAG	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chr19:54963430_54963444delGTGGCCAGTGCACAG	uc002qfv.1	+	2	343_357	c.199_213delGTGGCCAGTGCACAG	c.(199-213)gtggccagtgcacagdel	p.VASAQ67del	LENG8_uc002qfw.2_In_Frame_Del_p.VASAQ67del			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	67							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAATGGGCCTGTGGCCAGTGCACAGGTGAGAAGGC	0.642													---	19	---	---	9	---					
BMP15	9210	broad.mit.edu	37	X	50654047	50654047	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	ba8e73ba-4168-46ed-8ae1-fbbc2848f3f1	g.chrX:50654047delC	uc011mnw.2	+	0	313	c.264delC	c.(262-264)cgcfs	p.R88fs		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	88					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.R88H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAGAGAACCGCACCATTGGGG	0.592													---	4	---	---	2	---					
