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
KCNQ2	3785	broad.mit.edu	37	20	62070959	62070959	+	Silent	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr20:62070959G>A	uc002yey.1	-	5	1096	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	KCNQ2_uc002yez.1_Silent_p.L307L|KCNQ2_uc002yfa.1_Silent_p.L307L|KCNQ2_uc002yfb.1_Silent_p.L307L|KCNQ2_uc011aax.1_Silent_p.L307L|KCNQ2_uc002yfc.1_Silent_p.L307L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	307					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACTGCAGGCAGCGCGAAGAAG	0.637000														37			25		0	0	9.22233e-05	0	0
NT5DC1	221294	broad.mit.edu	37	6	116429548	116429548	+	Missense_Mutation	SNP	T	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr6:116429548T>A	uc003pwj.3	+	2	302	c.207T>A	c.(205-207)gaT>gaA	p.D69E	NT5DC1_uc003pwl.3_5'Flank	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	69							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TGGCATTGGATCTAGAAGATG	0.323000														53			9		0	0	2.17888e-05	0	0
PTK7	5754	broad.mit.edu	37	6	43112987	43112987	+	Silent	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr6:43112987G>A	uc011dve.1	+	15	2523	c.2481G>A	c.(2479-2481)gaG>gaA	p.E827E	PTK7_uc003oub.1_Silent_p.E819E|PTK7_uc003ouc.1_Silent_p.E763E|PTK7_uc003oud.1_Silent_p.E779E|PTK7_uc003oue.1_Silent_p.E689E|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.E145E	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	819	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGGCTTGGAGGAGGGAGTGG	0.597000														84			4		0	0	0.00024832	0	0
DDI2	84301	broad.mit.edu	37	1	15956850	15956850	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr1:15956850C>A	uc001awx.2	+	2	512	c.299C>A	c.(298-300)gCt>gAt	p.A100D	DDI2_uc001aww.3_Missense_Mutation_p.A100D|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	100					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGTAGTATAGCTGTGCCTGGC	0.473000														71			21		1.2644e-06	9.01736e-05	0.000175454	1	0
ABCB9	23457	broad.mit.edu	37	12	123444428	123444428	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:123444428G>T	uc001udm.4	-	1	665	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	ABCB9_uc021rfo.1_Missense_Mutation_p.L119M|ABCB9_uc021rfp.1_Missense_Mutation_p.L119M|ABCB9_uc001udo.4_Missense_Mutation_p.L119M|ABCB9_uc010taj.2_Missense_Mutation_p.L119M|ABCB9_uc001udq.3_5'UTR|ABCB9_uc021rfq.1_Missense_Mutation_p.L119M|ABCB9_uc001udr.3_Missense_Mutation_p.L119M	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	119					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACACGAACAGGGCCCAAAAC	0.647000														29			6		3.59834e-05	0.00250513	3.59834e-05	1	0
THAP9	79725	broad.mit.edu	37	4	83839493	83839493	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr4:83839493G>A	uc003hnt.2	+	4	2247	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	THAP9_uc003hns.1_Missense_Mutation_p.D566N|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.D427N	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	710							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGACCTGTCAGATCATAGGCG	0.423000														74			25		0	0	5.49717e-05	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731475	8731475	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr17:8731475G>A	uc002glq.1	-	11	1586	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	449					platelet activation	cytosol											GCTGAGTCTGGGAGTGAGGCA	0.642000														58			7		0	0	0.000274275	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394992	131394992	+	Silent	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:131394992G>A	uc004bvl.4	+	53	7282	c.7140G>A	c.(7138-7140)ccG>ccA	p.P2380P	SPTAN1_uc004bvm.4_Silent_p.P2385P|SPTAN1_uc004bvn.4_Silent_p.P2360P|SPTAN1_uc004bvo.4_Silent_p.P147P	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2380	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGGTGGATCCGAACAGGTAAA	0.597000														53			12		0	0	0.000151284	0	0
MLL2	8085	broad.mit.edu	37	12	49446075	49446075	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:49446075G>A	uc001rta.4	-	9	1391	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	464	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGCGTGATGCCTCAGGTGG	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				103			36		0	0	0.000374591	0	0
NRXN1	9378	broad.mit.edu	37	2	50149203	50149203	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:50149203C>G	uc021vhh.1	-	20	5234	c.4313G>C	c.(4312-4314)aGt>aCt	p.S1438T	NRXN1_uc010fbp.3_Missense_Mutation_p.S403T|NRXN1_uc002rxb.4_Missense_Mutation_p.S1137T|NRXN1_uc021vhg.1_Missense_Mutation_p.S1508T|NRXN1_uc021vhi.1_Missense_Mutation_p.S1504T|NRXN1_uc021vhj.1_Missense_Mutation_p.S1434T|NRXN1_uc002rxa.4_Missense_Mutation_p.S100T|NRXN1_uc010yon.2_Missense_Mutation_p.S103T	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1438					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTAGTTTCGACTCTCGTCCAC	0.478000														77			12		0	0	0.000308642	0	0
RP9	6100	broad.mit.edu	37	7	33139017	33139017	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr7:33139017G>C	uc003tdm.3	-	2	233	c.215C>G	c.(214-216)cCa>cGa	p.P72R		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	72	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P72R(4)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TGGTACATCTGGTATGCAATC	0.483000														107			4		0	0	1.23904e-05	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523606	55523606	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:55523606T>C	uc002ryv.2	-	29	5718	c.4876A>G	c.(4876-4878)Agc>Ggc	p.S1626G	CCDC88A_uc010ypa.1_Missense_Mutation_p.S1626G|CCDC88A_uc010yoz.1_Missense_Mutation_p.S1599G|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.S128G|CCDC88A_uc002ryu.2_Missense_Mutation_p.S881G|CCDC88A_uc002rys.3_Missense_Mutation_p.S584G|CCDC88A_uc002ryw.3_Missense_Mutation_p.S910G|CCDC88A_uc010fby.1_Missense_Mutation_p.S478G	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1627					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGAAGCAGGCTAAATTCTCCA	0.453000														42			19		0	0	7.07596e-05	0	0
BTBD7	55727	broad.mit.edu	37	14	93730186	93730186	+	Missense_Mutation	SNP	A	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr14:93730186A>C	uc001ybo.3	-	3	1642	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Missense_Mutation_p.F88C|BTBD7_uc001ybq.4_Missense_Mutation_p.F354C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	439										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGTTCATAAAAAACATCCGA	0.428000														54			15		0	0	0.000308642	0	0
SREK1	140890	broad.mit.edu	37	5	65466769	65466769	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr5:65466769C>T	uc003jun.3	+	8	1598	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	SREK1_uc010iwy.3_Missense_Mutation_p.S377F|SREK1_uc003juo.3_Missense_Mutation_p.S377F	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	377					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TCTCGTAGTTCCAGCAGGTTT	0.368000														41			15		0	0	0.000422831	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463804	123463804	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:123463804C>G	uc001uea.1	+	6	985	c.964C>G	c.(964-966)Cgt>Ggt	p.R322G	OGFOD2_uc001uds.1_Missense_Mutation_p.R158G|OGFOD2_uc001udv.1_Missense_Mutation_p.R158G|OGFOD2_uc001udt.1_Missense_Mutation_p.R158G|OGFOD2_uc001udu.1_Missense_Mutation_p.R158G|OGFOD2_uc009zxs.1_Missense_Mutation_p.R158G|OGFOD2_uc001udw.1_Missense_Mutation_p.R158G|OGFOD2_uc001udy.1_Missense_Mutation_p.R158G|OGFOD2_uc001udz.1_Missense_Mutation_p.R262G|OGFOD2_uc001ueb.1_Missense_Mutation_p.R158G|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	322							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CATGTGCTGCCGTGAGCCCGA	0.647000														46			11		0	0	0.00010058	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117561	117561	+	RNA	SNP	C	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chrGL000205.1:117561C>T	uc002kgk.4	+	0		c.939C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCATCCCGTCCGCAGCCGTGG	0.617000														14			6		0	0	3.59834e-05	0	0
OR6B2	389090	broad.mit.edu	37	2	240969643	240969643	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:240969643G>C	uc010zoc.2	-	0	204	c.204C>G	c.(202-204)ttC>ttG	p.F68L	OR6B2_uc002vyr.3_Missense_Mutation_p.F68L	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGATCTCCAGGAAAGACATGG	0.557000														102			19		0	0	9.7654e-05	0	0
MLL5	55904	broad.mit.edu	37	7	104748161	104748161	+	Missense_Mutation	SNP	A	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr7:104748161A>T	uc003vcm.3	+	21	3791	c.3257A>T	c.(3256-3258)gAc>gTc	p.D1086V	MLL5_uc010ljc.3_Missense_Mutation_p.D1086V|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.3_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1086					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						AACTTGAGGGACCTGACACCC	0.498000														36			19		0	0	0.000132079	0	0
EPG5	57724	broad.mit.edu	37	18	43440155	43440155	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr18:43440155A>G	uc002lbm.3	-	39	7023	c.6923T>C	c.(6922-6924)cTt>cCt	p.L2308P	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.L862P|EPG5_uc002lbn.2_Missense_Mutation_p.L1183P	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2308					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCTGTTAAAAGGGGCAGCAC	0.537000														66			15		0	0	0.000308642	0	0
LPHN1	22859	broad.mit.edu	37	19	14263148	14263148	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:14263148A>G	uc010xnn.2	-	21	3933	c.3637T>C	c.(3637-3639)Tcc>Ccc	p.S1213P	LPHN1_uc010xno.2_Missense_Mutation_p.S1208P|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1213					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCGAGGAGGGATTGAAG	0.617000														56			7		0	0	8.12818e-05	0	0
LPAR2	9170	broad.mit.edu	37	19	19735163	19735163	+	Missense_Mutation	SNP	G	A	A	rs144007983		TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:19735163G>A	uc002nnb.4	-	2	1097	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	LPAR2_uc002nna.4_Missense_Mutation_p.R320C|LPAR2_uc002nnc.4_Missense_Mutation_p.R320C	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	320					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						ACAGACTCGCGGGTGGACTGG	0.617000														62			5		0	0	3.59834e-05	0	0
NDUFS3	4722	broad.mit.edu	37	11	47604000	47604000	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:47604000C>T	uc001nga.2	+	5	689	c.607C>T	c.(607-609)Cct>Tct	p.P203S	NDUFS3_uc001nft.3_Missense_Mutation_p.P182S	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	203					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GAAAGACTTTCCTCTATCTGG	0.512000														241			68		0	0	0.000147903	0	0
CDC37L1	55664	broad.mit.edu	37	9	4706079	4706079	+	Silent	SNP	A	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:4706079A>G	uc003zio.3	+	6	1183	c.981A>G	c.(979-981)gaA>gaG	p.E327E		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	327	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TACATAAAGAAGATGATGAAC	0.393000														31			4		0	0	1.23904e-05	0	0
AGPAT6	137964	broad.mit.edu	37	8	41467379	41467379	+	Silent	SNP	C	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr8:41467379C>T	uc003xnz.2	+	3	1380	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	147					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACCTGCTGAGCAGAACCAATT	0.493000														81			27		0	0	9.22233e-05	0	0
MAT2A	4144	broad.mit.edu	37	2	85770091	85770091	+	Missense_Mutation	SNP	A	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:85770091A>T	uc002spr.3	+	7	1329	c.1019A>T	c.(1018-1020)aAg>aTg	p.K340M	MAT2A_uc010ysr.2_Missense_Mutation_p.K340M|MAT2A_uc010fgl.2_Missense_Mutation_p.K277M	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	340					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACCTCTCAGAAGAGTGAGAGA	0.398000														106			26		0	0	5.49717e-05	0	0
FAM161A	84140	broad.mit.edu	37	2	62067675	62067675	+	Missense_Mutation	SNP	A	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:62067675A>T	uc002sbm.4	-	2	566	c.464T>A	c.(463-465)aTg>aAg	p.M155K	FAM161A_uc002sbn.4_Intron|FAM161A_uc010ypo.2_Missense_Mutation_p.M155K|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.M46K	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	155					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATGATGTCATTAATGAGAC	0.363000														51			7		0	0	0.000157383	0	0
SGK1	6446	broad.mit.edu	37	6	134495704	134495704	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr6:134495704T>C	uc003qen.4	-	1	186	c.97A>G	c.(97-99)Atg>Gtg	p.M33V	SGK1_uc003qeo.4_Missense_Mutation_p.M128V|SGK1_uc011ect.2_Missense_Mutation_p.M23V|SGK1_uc011ecu.2_Missense_Mutation_p.M33V|SGK1_uc011ecv.2_Missense_Mutation_p.M47V|SGK1_uc011ecw.2_Missense_Mutation_p.M61V	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	33	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.R32M(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTCAGACCCATCCTCCTCTGC	0.423000											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			6		0	0	3.59834e-05	0	0
NR3C2	4306	broad.mit.edu	37	4	149075914	149075914	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr4:149075914G>C	uc003ilj.4	-	4	2516	c.2153C>G	c.(2152-2154)tCg>tGg	p.S718W	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	718	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S718L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGTGTTGACCGAGGGTTCTTT	0.567000														120			22		0	0	0.000117367	0	0
WDR92	116143	broad.mit.edu	37	2	68368907	68368907	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:68368907G>T	uc002see.1	-	3	517	c.436C>A	c.(436-438)Cca>Aca	p.P146T	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.P146T|WDR92_uc002seg.1_Missense_Mutation_p.P45T	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	146					apoptosis|histone lysine methylation		methylated histone residue binding	p.P146Q(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTTTGCCTTGGGTCCCACACC	0.373000														140			24		4.87955e-14	3.85617e-12	0.000117367	1	0
DMD	1756	broad.mit.edu	37	X	31152282	31152282	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chrX:31152282C>G	uc004dda.1	-	76	11195	c.10951G>C	c.(10951-10953)Gac>Cac	p.D3651H	DMD_uc004dcq.1_Missense_Mutation_p.D922H|DMD_uc004dcr.1_Missense_Mutation_p.D1081H|DMD_uc004dcs.1_Missense_Mutation_p.D1081H|DMD_uc004dct.1_Missense_Mutation_p.D1191H|DMD_uc004dcu.1_Missense_Mutation_p.D1191H|DMD_uc004dcv.1_Missense_Mutation_p.D1178H|DMD_uc004dcw.2_Missense_Mutation_p.D2307H|DMD_uc004dcx.2_Missense_Mutation_p.D2310H|DMD_uc004dcz.2_Missense_Mutation_p.D3528H|DMD_uc004dcy.1_Missense_Mutation_p.D3647H|DMD_uc004ddb.1_Missense_Mutation_p.D3643H|DMD_uc004dcp.1_Missense_Mutation_p.D570H|DMD_uc011mkb.1_Missense_Mutation_p.D473H|DMD_uc004dcm.1_Missense_Mutation_p.D583H|DMD_uc004dcn.1_Missense_Mutation_p.D570H|DMD_uc004dco.1_Missense_Mutation_p.D583H	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3651					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTGCTTGTGTCCTGGGGAGGA	0.408000														23			8		0	0	6.40141e-05	0	0
C20orf72	92667	broad.mit.edu	37	20	17950811	17950811	+	Silent	SNP	C	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr20:17950811C>A	uc002wqh.3	+	1	391	c.309C>A	c.(307-309)atC>atA	p.I103I	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_Intron|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	103										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						GGTTTCCTATCTTCAATCCAG	0.478000														75			13		9.05144e-12	6.96485e-10	0.000151284	1	0
UTP20	27340	broad.mit.edu	37	12	101684601	101684601	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:101684601A>G	uc001tia.1	+	7	982	c.826A>G	c.(826-828)Atg>Gtg	p.M276V	UTP20_uc009ztz.1_Missense_Mutation_p.M276V	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	276					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTCAAAAACATGGTCAAATC	0.373000														61			26		0	0	9.22233e-05	0	0
CACFD1	11094	broad.mit.edu	37	9	136333115	136333115	+	Silent	SNP	G	A	A	rs150411088		TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:136333115G>A	uc011mdh.1	+	3	495	c.393G>A	c.(391-393)acG>acA	p.T131T	CACFD1_uc011mdg.1_Silent_p.T131T|CACFD1_uc011mdi.1_Silent_p.T89T|CACFD1_uc004cec.2_Silent_p.T89T|CACFD1_uc010nan.2_Non-coding_Transcript	NM_001242369	NP_001229298	Q9UGQ2	FLOWR_HUMAN	Homo sapiens chromosome 9 open reading frame 7 (C9orf7), transcript variant 3, mRNA.	131						integral to membrane											CCTTTGCTACGGGGGTGCTGT	0.657000														30			13		0	0	0.000219431	0	0
PTPN11	5781	broad.mit.edu	37	12	112892482	112892482	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr12:112892482C>A	uc001ttx.3	+	4	1020	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	PTPN11_uc001ttw.1_Missense_Mutation_p.Q214K	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	214	SH2 2.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACAACTCAAGCAGGTGAGCAG	0.378000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					37			6		8.12818e-05	0.00552717	8.12818e-05	1	0
TTC26	79989	broad.mit.edu	37	7	138822639	138822639	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr7:138822639T>C	uc003vus.2	+	2	302	c.188T>C	c.(187-189)aTt>aCt	p.I63T	TTC26_uc003vuq.2_Missense_Mutation_p.I63T|TTC26_uc011kqm.1_Missense_Mutation_p.I63T|TTC26_uc003vur.4_Missense_Mutation_p.I63T|TTC26_uc011kqn.1_Missense_Mutation_p.I63T|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.I63T	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	63							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AATTTGTGGATTGGATATTGT	0.323000														66			7		0	0	8.12818e-05	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621916	41621916	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr22:41621916A>G	uc003azo.3	+	11	1529	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K401R|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	492					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTGTCAGAAGAATGACATT	0.592000														47			4		0	0	3.59834e-05	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020521	73020521	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:73020521G>T	uc001otu.3	+	0	859	c.838G>T	c.(838-840)Gac>Tac	p.D280Y	ARHGEF17_uc021qnc.1_Missense_Mutation_p.D280Y	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	280					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGTGACGACGACCGAGACGG	0.697000														31			12		7.03913e-09	5.27754e-07	0.00010058	1	0
PSMD1	5707	broad.mit.edu	37	2	231943417	231943417	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr2:231943417delA	uc002vrn.2	+	9	1278	c.1116delA	c.(1114-1116)gcafs	p.A372fs	PSMD1_uc002vrm.2_Frame_Shift_Del_p.A372fs|PSMD1_uc010fxu.2_Frame_Shift_Del_p.A236fs	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	372					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|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCGTTATAGCAAACTCTTTTA	0.343													---	74	---	---	12	---					
DZIP3	9666	broad.mit.edu	37	3	108324275	108324275	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr3:108324275delT	uc003dxd.3	+	1	444	c.22delT	c.(22-24)tttfs	p.F8fs	DZIP3_uc003dxf.1_Frame_Shift_Del_p.F8fs|DZIP3_uc011bhm.2_5'Flank|DZIP3_uc003dxe.1_Frame_Shift_Del_p.F8fs	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	8					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACCAGATGAATTTTTTGTGAG	0.443													---	76	---	---	20	---					
LIPH	200879	broad.mit.edu	37	3	185241864	185241865	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr3:185241864_185241865delAA	uc003fpm.3	-	4	822_823	c.712_713delTT	c.(712-714)ttgfs	p.L238fs	LIPH_uc010hyh.3_Frame_Shift_Del_p.L204fs	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	238					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTACCTCCCAATATTGTTTTG	0.436													---	42	---	---	24	---					
OGN	4969	broad.mit.edu	37	9	95148550	95148550	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr9:95148550delA	uc011ltx.2	-	5	813	c.713delT	c.(712-714)ttgfs	p.L238fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Frame_Shift_Del_p.L220fs|OGN_uc004asb.3_Frame_Shift_Del_p.L220fs	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	220						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						ATTATGGTCCAAGTAGAGGAA	0.368													---	34	---	---	16	---					
OR51A7	119687	broad.mit.edu	37	11	4928976	4928976	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr11:4928976delT	uc010qyq.2	+	0	377	c.377delT	c.(376-378)attfs	p.I126fs		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTTGCCATTCACAATCCC	0.393													---	103	---	---	15	---					
NOL11	25926	broad.mit.edu	37	17	65732103	65732103	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr17:65732103delG	uc002jgd.1	+	8	1021	c.1018delG	c.(1018-1020)ggtfs	p.G340fs	NOL11_uc010wql.1_Frame_Shift_Del_p.G158fs|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	340						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCATTAGCAGGTGCTCTTGG	0.338													---	73	---	---	9	---					
MIDN	90007	broad.mit.edu	37	19	1257046	1257048	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:1257046_1257048delGCT	uc002lrp.3	+	7	1697_1699	c.1182_1184delGCT	c.(1180-1185)cggctg>cgg	p.L395del		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	395						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGAACGGCTGCAGCTGCTT	0.670													---	30	---	---	10	---					
CYP4F2	8529	broad.mit.edu	37	19	16003152	16003153	+	Frame_Shift_Ins	INS	-	ATAT	ATAT			TCGA-HE-7128-01A-11D-1961-08	TCGA-HE-7128-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a290bf48-c383-4a28-aed8-3d24910c3576	b9aafe9d-7537-47f4-9296-4e2581cfa7c3	g.chr19:16003152_16003153insATAT	uc002nbs.1	-	4	541_542	c.491_492insATAT	c.(490-492)atgfs	p.M164fs	CYP4F2_uc010xot.1_Frame_Shift_Ins_p.M15fs|CYP4F2_uc010xou.1_Frame_Shift_Ins_p.M15fs	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	164					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAAATCTTCATATAGGGCTT	0.520													---	162	---	---	22	---					
